Fighting for Awareness, Treatments, and Cures for ALSP: A Family’s Journey With a Rare Brain Disease

Learn about Jeffrey Cade’s journey with ALSP, as well as how his sister Kim and other family members are working to support research into treatments and cures for everyone impacted by this rare brain disease.

Jeffrey Cade had just stepped into a new position overseeing a 2,000-student youth soccer organization when he started experiencing dizziness and movement issues in 2018. These initially mild symptoms would eventually lead him to be diagnosed with a rare progressive brain disease called adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). Over the course of the next several years, Jeffrey’s symptoms would quickly worsen, forcing him to move back home with his mother as he and his family struggled to receive an accurate diagnosis.

For the long-time youth soccer coach, the sudden and rapid progression of the disease was devastating. “His life was changed overnight,” says his sister Kim. “He went from athlete and coach to basically disabled due to a brain disorder.” After living for two years with a misdiagnosis of multiple sclerosis (MS), Jeffrey and his family finally got an official diagnosis of (ALSP).

ALSP is a rare, progressive brain disease caused by a mutation of the CSF1R gene. Symptoms include difficulty with speech and movement as well as behavioral changes, often accompanied by issues like depression, anxiety, and cognitive decline. Over time, ALSP results in a complete loss of speech and motor functions and is ultimately fatal. There are currently no cures or clinically approved treatments.

Through it all, Kim says Jeffrey has remained hopeful, as much of an inspiration to his family and friends as he was to the players of the soccer organizations in which he was an active and involved member. “Jeffrey is hilarious, he is kind, he is so generous and giving. Anybody who meets Jeffrey walks away with a smile on their face,” says Kim. “The fact that he remains so positive speaks volumes.”

Read Jeffrey’s full story and learn about his and his family’s journey with ALSP below.

Early Symptoms and Misdiagnosis With MS

In February 2019, when Jeffrey was 42, he drove himself to the nearest hospital. Earlier in the previous year he had fallen while coaching and had started experiencing some dizzy spells. Now, he was stuttering, struggling to get the right words out, and what speech he could manage was slurred. The doctors ran tests and assumed he had suffered a stroke.

Over the course of the next year, both his speech and his ability to walk worsened, and in the summer of 2020, Jeffrey moved in with his mother so she could act as his caretaker. By this point he was using a walker and had been diagnosed with multiple sclerosis (MS), but the diagnosis had done nothing to help with improving or managing his symptoms. It would be nearly another year before Jeffrey and his family received the correct diagnosis of ALSP.

Jeffrey’s case is unfortunately not unique, and ALSP is often initially misdiagnosed as MS. Early symptoms like difficulty speaking, movement issues, and cognitive impairment can progress quickly and overlap closely with those of other brain diseases like MS, Parkinson’s, and ALS. For this reason, only genetic testing can conclusively yield an ALSP diagnosis—often after a person has struggled with a misdiagnosis and ineffective treatments for months or years. 

Getting an Accurate Diagnosis and the Role of Genetic Testing

In late 2020, Jeffrey’s doctors began running additional tests, and by January 2021 they had discovered the CSF1R gene mutation indicative of ALSP. 

“When we finally got the diagnosis of ALSP and understood that we were dealing with a terminal illness, it broke our family,” says Kim. “We wanted to do everything in our power to help him, but we didn’t know where to start. There was very little information on ALSP.”

Getting an official diagnosis set Kim on a path to learn more about the disease and find ways she and her family could support Jeffrey through the days and years ahead. She began to find resources and support networks—including the Sisters’ Hope Foundation and the American Brain Foundation—that helped provide answers about ALSP and offered ways family members could get involved in efforts to find treatments and cures.

One of these opportunities came through discussions with Jeffrey’s medical team. “Our family tried to find ways that we could help Jeffrey, and it was then that the doctors asked me, my brother Joseph, and my mom to get tested for the gene mutation,” says Kim. “My mom tested negative, my brother Joseph and I tested positive.”

Living With ALSP

For Jeffrey, the loss of mobility and independence caused by ALSP’s rapid progression was a shock. For years he had been an active soccer player and coach involved in his community and helping others. Jeffrey started playing soccer when he was just 5 years old, and he used to tell his mother that when he got older, he was going to be a soccer player. For a while he did play semi-pro soccer, until a passion for teaching others led him into coaching. In addition to coaching a women’s soccer team in Reno, Nevada, he also spearheaded a youth soccer organization with approximately 300 students and coaches. He had just been promoted and asked to oversee a much larger organization serving 2,000 student athletes based in California when his ALSP symptoms began.

“Jeffrey was always independent and active, looking forward to sports, especially soccer,” says Kim. “Today, he requires 24/7 care. He needs help getting out of bed and with basic tasks such as bathing.” While his mother was able to act as his primary caretaker during the early stages of the disease, he now lives in a nursing rehabilitation facility where he can receive around-the-clock care and support. 

Because ALSP can cause behavioral changes, Jeffrey sometimes receives medication to help control symptoms like extreme anger and anxiety or depression. Kim says that though he struggles to speak and cannot walk, Jeffrey stays positive and looks to the future. She recalls asking him one day how he was feeling. “He responded, ‘I have great days, and I have OK days, but I never, ever have bad days,’” she says. “And that speaks volumes to who Jeffrey is.”

A Bone Marrow Transplant and the Hope of Future Treatments

There are currently no FDA-approved medications to treat ALSP. Certain medications may be used “off label” to treat specific physical or psychological symptoms, but these do not halt or slow the progression of the disease. 

In April 2021, one of Jeffrey’s doctors at the University of California, San Francisco Medical Center recommended a bone marrow transplant. While the procedure is currently considered experimental as a treatment for ALSP, doctors advised that it may be able to halt the progression of the disease by providing the body with an infusion of healthy stem cells. While the family was working to find a suitable donor for Jeffrey, they got word that the insurance company would not approve the transplant because it was not considered an established treatment.

Thankfully, over time and with help from doctors at the Mayo Clinic, they managed to get the procedure approved by Jeffrey’s insurance company. However, it was a struggle which for Kim underscored the importance of increasing awareness about and research into approved treatments for ALSP. Not only is the lack of recognized treatments an issue for people living with the disease, but the lack of knowledge and awareness among the medical community makes it harder to get a diagnosis. Kim recalls that her own doctor wasn’t familiar with ALSP when she went in for an appointment following Jeffrey’s diagnosis.

By late November, Jeffrey’s cousin Kai began the process of becoming a bone marrow donor—an already complex process made even more so by the ongoing COVID pandemic. In March of this year, Jeffrey underwent a bone marrow transplant. The full transplant process took six weeks, including a round of chemotherapy before the transplant and hospitalization to monitor his status afterward.

While this is far from a much-needed cure for ALSP, Kim says the family hopes it will enable Jeffrey to continue battling the disease long enough to benefit from treatments developed in the future. For now, Jeffrey is recovering well from the bone marrow transplant. “He is getting stronger, he’s doing physical therapy, and he is determined to take steps and use a walker again,” says Kim. “He’s a fighter, he’s positive, and we are so proud of him.”

The Importance of Research and Awareness in Finding a Cure

Testing positive for the CSF1R gene mutation alerted Kim not only to her own risk of developing the disease, but also to the importance of awareness in the future of ALSP research and treatment. “Knowing that I have the gene mutation has changed my life. I think about it every day, and I wonder if I too will develop symptoms,” she says. “But in understanding this disease, I have the opportunity to be able to take action [should symptoms start to develop].” 

In the future, the ability to identify one’s own risk for ALSP through genetic testing may also open up possibilities for treatments and procedures, like bone marrow transplants, that could slow or even halt disease progression early on. “Two years went by where Jeffrey had a misdiagnosis,” she says. “If people and physicians understood this disease and brain disorders better, he would be in a better position than he is today.”

Today Kim is working to help support other families dealing with ALSP and is also participating in a clinical trial at UCSF involving people with the CSF1R gene mutation. She remains hopeful that researchers will develop effective treatments for ALSP in the near future. “Research is important,” she says. “The more people we get involved who have the CSF1R gene mutation or have ALSP, the better chances we have to find treatments and eventually a cure.”

Jeffrey hopes that by sharing his story he can help put a face to ALSP and expand awareness for all people living with brain diseases and disorders. “Jeffrey would first and foremost want to tell you that he’s okay,” says Kim. “But he would also ask you for help—help for others living with ALSP and other brain disorders. He would want you to spread the word so we can find the best treatments and one day a cure, and see the first survivor of ALSP.”

The American Brain Foundation is committed to finding treatments and cures for all brain diseases and disorders. By donating today you can help us achieve a future without brain disease.

Learn how research and funding supported the development of the lifesaving Mobile Stroke Unit, and how future research could lead to even more innovative early interventions.


Acute ischemic stroke (AIS) is the fifth leading cause of death and the number one cause of serious long-term disability in the US. Research has identified a crucial early intervention period in the first few hours of a stroke during which certain treatments can halt or reverse stroke progression. This means the quicker a person having a stroke can receive treatment, the lower the risk of long-term brain damage and the higher the chance of a positive outcome. 

This research into the early stages of stroke progression led James C. Grotta, MD, FAAN, to develop Houston’s Mobile Stroke Unit, an innovative emergency response program that now provides lifesaving treatment for thousands of people.

The Development of the Mobile Stroke Unit

Dr. Grotta is a neurologist and clinical researcher focused on developing and testing new acute stroke treatments. He serves as the director of Stroke Research at the Clinical Institute for Research and Innovation, Memorial Hermann – Texas Medical Center and as the director of the Mobile Stroke Unit Consortium. He is also a member of the American Brain Foundation’s Board of Directors.

In 2014, Dr. Grotta launched the nation’s first Mobile Stroke Unit at the University of Texas Health Science Center at Houston and its hospital affiliate, Memorial Hermann Hospital. The Mobile Stroke Unit is a modified ambulance containing brain imaging equipment like a portable CT scanner and tPA “clot busting” medications. This allows Dr. Grotta and his team to bring innovative emergency response stroke treatments directly to a person having a stroke, saving valuable time that would otherwise be lost in transit to the emergency room.

A stroke occurs when either a blocked blood vessel (ischemic stroke) or a ruptured blood vessel (hemorrhagic stroke) disrupts blood flow to a part of the brain. Unless that blood flow is restored, the brain tissue will die, which can lead to paralysis, loss of speech, or death. “We have very good treatments to restore the blood flow [cut off by a stroke], but the sooner those treatments are given, the more likely it is that the brain tissue is salvaged and the patient recovers,” says Dr. Grotta.

Dr. Grotta explains that the initial idea for a Mobile Stroke Unit was sparked by efforts he saw elsewhere to put the latest research on early response into action. He consulted Klaus Fassbender, MD, PhD, and his colleague Silke Walter, MD—both of the Department of Neurology, Saarland University in Hamburg, Germany—who pioneered the early use of a portable CT scanner to quickly assess patients on site and provide emergency stroke treatments. “[They] did a small randomized trial and showed that they could treat patients faster—and even get patients treated in the first hour after the symptoms started,” says Dr. Grotta.

When a larger study in Berlin confirmed the importance of timing in early stroke treatment, Dr. Grotta began to lay the foundation for the first Mobile Stroke Unit in the United States. “I wanted to make a difference in my city in terms of an immediate impact on outcomes and a population of patients who are very vulnerable,” he says. Dr. Grotta views the Mobile Stroke Unit as an essential community resource directly tied to increasing access and equity of care across both underserved and other parts of the city. Initial funding came from local philanthropists, and currently all of the Mobile Stroke Units in operation in the U.S. are supported by donations.

Further funding from the American Heart Association and Patient Centered Outcomes Research Institute (PCORI) supported research into the Mobile Stroke Unit’s impact. These funds allowed Dr. Grotta to conduct the only randomized trial to evaluate the cost effectiveness of this novel approach to stroke treatment.

What Is the Mobile Stroke Unit?

The Mobile Stroke Unit is a standard ambulance that has been adapted to include specialized equipment like a CT scanner, which helps to quickly diagnose a stroke and identify the best course of treatment. When a person calls 911 and reports a suspected stroke, the Mobile Stroke Unit is dispatched with the regular fire department ambulance. They arrive on the scene together to evaluate the person and determine whether they are indeed having a stroke and need to receive care in the Mobile Stroke Unit.

Dr. Grotta explains why a mobile CT scanner is so important to early stroke intervention: “One of the key things you have to do in a stroke patient before you can treat them is determine: is it a stroke due to a blocked artery, or is it due to bleeding in the brain, which causes about 10-15% of strokes? We need to do brain imaging before we can start the treatment.” Once the brain imaging is complete, there’s a nurse on board who can deliver quick-acting tPA clot-busting treatment if needed.

Dr. Grotta likens the Mobile Stroke Unit to an emergency room on wheels. “What makes a Mobile Stroke Unit unique is having the ability to do a scan of the brain, identify that the patient really is having a stroke that’s treatable, and then have those medications on board and the personnel on board to be able to [administer them],” he says. “It’s bringing the emergency room to the patient and that… enables us to treat patients in that first hour or so after symptom onset.” The unit typically arrives within 10 minutes of dispatch and takes 10 minutes to do a scan, meaning a person can be treated within 20 minutes.

This accelerated process saves over 30 minutes of time and generates 10 times more treatments within the first hour compared to standard stroke management, leading to better clinical outcomes. “There’s a highly significant improvement in the percent of patients who are left without any disability. Furthermore, that results in downstream reduction of being in the nursing home and less chronic care facility use,” says Dr. Grotta.

There are now about 20 Mobile Stroke Units in the U.S. Most of them operate within a 10-mile radius in cities or relatively populated areas. Dr. Grotta predicts that 10 years from now, there will be Mobile Stroke Units in every metropolitan area.

“I think one of the most important messages I’d like to get out to everybody is the importance of calling 911 at the first symptoms of a stroke, and to know what the symptoms of a stroke are,” says Dr. Grotta. “Because if people don’t call 911, then they can’t get treated.”

Personal Story: Cynthia Reese

Cynthia Reese experienced the incredible impact of the Mobile Stroke Unit firsthand. While at work, Cynthia felt nauseated and got up from her desk to go to the bathroom, but quickly found herself unable to move or speak. When a coworker found her nearly collapsed, they called emergency services.

The Mobile Stroke Unit met emergency services in transit and Cynthia was transferred to the unit for treatment. “They gave me a clot blocker. By the time I got to the hospital, I was able to converse with the doctors and I returned to work in a week,” says Cynthia. “Because we have the science and because somebody was smart enough to give funding to at least one hospital, I’m here.”

Thanks to this quick response, the Mobile Stroke Unit saved Cynthia’s life and helped her avoid serious, long-term disability. “Had it not been for the Mobile Stroke Unit, I don’t think I would’ve seen my great-granddaughters,” she says. “They knew exactly what to do, how to treat me. And that made all the difference in the world.”

The Impact of Continued Funding and Research

We know more research will lead to more effective treatments and cures, better outcomes, and lower rates of long-term disability for people who experience a stroke. This is why it’s essential to continue funding research into earlier and more effective intervention options and to support programs like the Mobile Stroke Unit

The American Brain Foundation is currently funding a Next Generation Research Grant recipient whose project is focused on researching outcomes for people treated by Mobile Stroke Units. Additionally, the American Brain Foundation’s 2020 Scientific Breakthrough Award went to the Calgary Stroke Team, who conducted research on the effectiveness of mechanical thrombectomy therapy for ischemic stroke patients compared to traditional treatments. 

Dr. Grotta is currently involved in a study of a new drug to stop the bleeding that occurs in a hemorrhagic stroke. Being able to treat these strokes on site with a Mobile Stroke Unit would be a significant leap forward in emergency care. He also points to ongoing research that may soon enable doctors to diagnose a stroke more readily, perhaps using technologies like a portable MRI scanner or an ultrasound device.

Now that research has shown that Mobile Stroke Units lead to improved outcomes, the challenge is making them more economically feasible. It’s more expensive to operate a Mobile Stroke Unit than a regular ambulance, and there is currently no pathway for Medicare and other insurers to cover the costs.

Additional funding can help expand the reach and impact of projects like the Mobile Stroke Unit. “Most grants from the federal government will not cover infrastructure and large equipment like a Mobile Stroke Unit,” says Dr. Grotta. Grants may pay for research and data analysis, but they don’t cover the cost of the Mobile Stroke Unit or doctors’ and nurses’ salaries.

The Mobile Stroke Unit also shows the value of investing in research and resources for pre-hospital treatment of many different emergency health issues, including trauma, heart attack, and others. Most emergencies are time-sensitive and more specifically equipped mobile response units open up opportunities to achieve better outcomes by bringing treatment directly to a person within a crucial early timeframe. With more funding for research, it’s possible to expand the impact of pre-hospital treatment and save more lives.

The American Brain Foundation believes that when we find the cure to one brain disease, we will find cures to many others. Learn more about the groundbreaking brain disease research we fund, or donate today to support the cures and treatments of tomorrow.

After dystonia changed his life, Tom S. was determined to turn his obstacles into opportunities and dedicated himself to helping others navigate similar health challenges.

Tom S. was living a busy life as a full-time student pursuing a master’s degree in counseling. But in the summer of 2001, he began noticing certain muscles contracting in his neck. “I noticed that my head would slightly lean to the right when I was sitting, and it would flop to the right when I walked,” he says. “Thinking it was a musculoskeletal problem, I sought out chiropractic care, where I received neck adjustments and extension traction.”

Over the course of the following months, Tom’s life would change dramatically. As his symptoms worsened, he discovered through research and consulting with specialists that he had cervical dystonia. Despite dystonia being the third most common movement disorder after Parkinson’s and essential tremor, it was a long path to an official diagnosis. “Like many others with dystonia, I had to originally diagnose myself,” says Tom. This early lack of resources and clear answers eventually led Tom down a road to advocacy and support for others who may feel like they’re struggling with their health issues alone.

The Road to a Dystonia Diagnosis

After several months, the discomfort and severity of muscle contractions was increasing. Tom noticed that his neck muscles were involuntarily pulling his head to the right more forcefully. This created extreme pain when he moved it in any direction. As the pain worsened, he sought out other chiropractic treatment options. He went to massage therapists, a sports medicine doctor, and physical therapists, as well as MDs and an internist. “None of it helped,” he says. “I kept getting worse.”

Increasingly frustrated with not being able to identify what was wrong, Tom began researching his symptoms on the internet. There, he discovered cervical dystonia. Convinced this was what he had, Tom sought out a movement disorder neurologist, who ended up making the official diagnosis.

Dystonia does not have a cure at this time, but there are medications that can improve symptoms. However, by the time Tom got a diagnosis, he was in such extreme pain, he was unable to do anything on his own. “My head and neck were turned and stuck about 45 degrees toward my right shoulder, and the disfigurement significantly worsened with any type of movement because of the intense muscle contractions,” he says.

Adjusting to a New Normal

As a result of his pain and increasing lack of mobility, Tom had to drop out of graduate school, quit his job, and move back in with his parents. In this new situation, Tom found himself facing similar challenges to many people diagnosed with dystonia. Tom was previously a competitive athlete in several sports, an entrepreneur, and a self-sufficient full-time student. So suddenly requiring the help of others to function was difficult to accept. “The transition from an active, independent person to a disabled person almost completely dependent on others was devastating,” says Tom. “I was 30 years old at the time and felt like I was in the prime of my life.”

The pain became so severe that Tom was unable to cook, clean, or do laundry. Everything he could do was with one hand, because he needed the other to support his head and neck. For 6 to 8 months, Tom spent his days almost completely immobilized. He would be lying in bed or on the floor even when eating. Over time, he developed scoliosis due to his body maintaining a twisted posture for so long. To cope, Tom began drinking more and eating a lot of unhealthy foods, despite a background in health and nutrition. Over the course of 5 years, he gained 150 pounds. This not only added to his health issues but also gave him a sense of powerlessness from his newfound disability.

Today, Tom reflects about just how much of this radical shift in his health was tied to the sudden isolation and loneliness of disability. “Thinking back, maybe I didn’t feel badly enough or care enough to make changes,” he says, “but more than anything, I felt so alone and didn’t really know what first step to take.” This lack of resources and support would eventually lead to his turn toward advocacy for those living with similar conditions.

A Turn Toward Advocacy and Empowerment

In December of 2006, Tom caught a severe stomach virus and was sick for almost two weeks. “I rarely get sick,” Tom says, crediting this illness as a much-needed wake-up call: “While this was not the type of motivation to change I would have chosen, this was exactly what I needed to jump start my brain into action.” During these two weeks he lost 15 pounds, and he spent a lot of time reflecting on those elements of his health that were under his control. Realizing that failure to act now would result in worsening health problems in the future, he committed himself to changing his habits and investing in his own care.

In the next year and a half, Tom went from 330 to 190 pounds by focusing on living a healthy lifestyle. That included taking daily walks. He also began to diligently follow a targeted stretching and exercise program to help manage his dystonia symptoms. In doing these exercises, he found significant, persistent improvement in his neck pain.

Tom started working to help others by providing strategies for living with physical and mental health conditions. He also provided advice for dealing with other life challenges. Tom now works as a certified professional life coach, motivational speaker, chronic pain and dystonia awareness advocate, health blogger, and volunteer support group leader for the Dystonia Medical Research Foundation (DMRF). He has also written two books about his journey with dystonia. Currently, he writes for the Chronic Illness Bloggers Network, The Mighty, Patient Worthy, and The Wellness Universe.

“Life is certainly much better, but I still have problems with my neck and back that prevent me from doing some activities,” he says. “Every day I have to carefully balance my work and other activities with rest and self-care. I have had to learn to modify my life and embrace the new me with different abilities and interests.”

Embracing a New Start

Today, Tom embraces the challenges of what is to come and is learning to let go of his past. Dystonia has impacted his life in many unforeseen ways. But Tom believes that sometimes our greatest challenges can also be our greatest teachers. Helping others to balance these challenges with self-acceptance and gratitude for new opportunities has given him a newfound purpose.

“No matter what we are going through, if we never give up hope and trust that there is a way through our challenges, our lives can be transformed in very meaningful ways,” says Tom.

The American Brain Foundation is committed to finding cures for the brain diseases and disorders that affect 1 in 6 people. Donate today to make a difference. With your help, we won’t have to imagine a world without brain disease, we’ll be able to live in one.

Following their own search for information about 4H leukodystrophy and devastation over the lack of available treatments, two determined parents honor their daughter’s memory and start a foundation

When new parents June and Ron first brought their daughter Yael home from the hospital, they were excited, bleary-eyed, and wrapped up in newborn bliss. But only a few short weeks later, they became concerned about their daughter, who they lovingly called Yaya. Her physical development didn’t seem to align with the newborn milestones they learned about.

This began a months-long journey to a diagnosis for a rare genetic neurological disease without a cure. Find out how they advocated for their daughter in pursuit of diagnosis and care. In addition, learn how they now fight for other patients like her and families like theirs.

Pursuing a Diagnosis

Yaya’s road to a diagnosis began with her parents’ determination. “It took months just to convince our family physician to prescribe a brain MRI—or I should say, even a visit with the neurologist, much less a brain MRI. We had to really fight for a visit with the neurologist,” says Yaya’s father Ron.

At the time of the test, Yaya’s brain MRI read as normal. Plus, she still received a normal reading on a second scan six months later. Because doctors were not familiar with her rare disease, they couldn’t recognize the abnormalities. So they couldn’t land on a diagnosis that would explain the symptoms she experienced. By then, Yaya had failed a swallow study and needed a feeding tube. It took seven months, a hospitalization, and a surgery for Yaya to receive whole-exome sequencing. A month later, at eight months old, Yaya finally received a diagnosis: hypomyelination with hypogonadotropic hypogonadism and hypodontia. The common name for this is 4H leukodystrophy, or Polr3-related leukodystrophy.

But even with a diagnosis, June and Ron had as many questions as they had answers. “It was hard for doctors to tell us what they meant, frankly,” says Ron. “We had a terrific care team. [But] our geneticists had never heard of 4H or POLR3.” When Yaya’s parents tried to search for more information about 4H leukodystrophy online, they couldn’t find any large organizations that provided resources, connected families, or supported research to better understand the disorder and develop treatments. They felt confused and alone.

A Family’s Journey With a Rare Brain Disease

Yaya’s geneticists passed along three medical journal articles on 4H. This left Ron and June trying to make sense of their daughter’s diagnosis and prognosis through medical literature. “What they told us was: There’s nothing we can do. There’s no medicine. There’s no therapy or treatment,” says Ron. “I don’t think either of us knew that that sort of case existed—that you get diagnosed with a disease, and then you just do nothing and you don’t know what’s going to happen. You wait for it to progress and just try to manage symptoms.”

Their geneticists were reputable and experienced. But Ron and June walked away from their initial meetings without an understanding of what Yaya’s care would look like. Nor did they know what type of care team needed to form. The conversations focused on symptoms to watch for years down the line and the need for an MRI each year. But June and Ron needed to know about symptom management and comfort care. “We increasingly found ourselves to be in a position where we had to educate the doctors in order to get the care that’s needed,” says June. Yaya was having difficulty swallowing, which was causing respiratory issues. Time felt precious and her needs were immediate.

One of the couple’s best friends, an ER doctor, managed to connect June and Ron with a doctor in Montreal. She was one of the few clinician-researchers studying this rare disease.

“One thing that she told us was there’s no norm of how this disease would progress,” says June. “You take 200 patients. They all have something different. But throughout that journey, there was no playbook that we could follow as parents of a young child with a rare disease.” Thankfully, June and Ron found they could lean on this doctor as a resource and advocate for Yaya.

Her support was important as Yaya’s disease progressed. Yaya’s presentation of the disease was aggressive, with symptoms beginning at a very young age and rapidly progressing from there. After a life of love and joy, Ron and June’s daughter passed away shortly after her first birthday.

Honoring Yaya

Following Yaya’s passing, her parents became determined to advocate for others with 4H leukodystrophy. To start, Ron and June reached out to a couple of other families touched by 4H. They also found some labs willing to submit research proposals to study the disease. But they quickly learned that it was necessary to first bring everyone together and share knowledge. In addition, it was important to create a community of collaboration centered on a common goal.

In 2018, they established the Yaya Foundation for 4H Leukodystrophy, an organization dedicated to supporting families and unlocking the mysteries of this rare disease through research. “We founded the only organization in the world that’s fighting for 4H leukodystrophy patients and families,” says Ron. In the process of obtaining seed funding and building a staff, the Yaya Foundation began to grow.

Lawyers by occupation, Ron and June run the Yaya Foundation as two parents dedicated to creating a community. They also help other families who face a similar situation to theirs. They work to provide educational and emotional support. These include resources for those with a loved one newly diagnosed with the disease. They do this because they don’t want others to feel as lost as they once did. “We’re really trying to find a way to build a community—a research community, care community, and a patient community to help our disease area,” says June.

June and Ron found other families like theirs through 4H-specific Facebook groups for parent-caregivers. They saw the incredible value in asking questions and getting answers from other people walking the same journey. Plus, they wanted to find a way to organize and share that information. Today, they host regular Zoom sessions attended by patients and families all over the world. During these calls, families connect with each other and, sometimes, disease experts. It is their hope that the Yaya Foundation offers parents support and reassurance that their child can have a wonderful life; that their family can build special memories together in spite of the disease; provides access to the specialized care that people affected by 4H need; and changes the world so that one day there will be transformational therapies available to people affected by 4H.

The Importance of Rare Disease Research

The other primary mission of the Yaya Foundation is to accelerate research and discover effective therapies for this rare disease. In bringing together a network of doctors, researchers, and other experts, even those outside the direct 4H community, Ron and June hope to create a knowledge base and push research forward.

“I think it’s so easy for all of us to put rare disease or neurological disease in a corner over there if we’re not affected by it,” says Ron. “What is easy to get lost is that rare diseases and rare neurological diseases are really not that rare… One in 10 Americans is affected by rare disease. When you extrapolate that to family members and loved ones, so many of us are affected by rare disease.”

Research specific to 4H is just beginning. But discoveries made for rare genetic diseases have the potential to advance therapies for other diseases as well. “You never know where that next great scientific discovery that is going to change the world could come from, and it could come from rare disease research and neurological disease research,” says Ron. For example, the success of gene therapy as a treatment for certain neurologic disorders is already helping determine current and future research for other similar diseases. Understandings gained from the study of one brain disease can unlock new paths to go down. In turn, they will lead to improved treatments, prevention, and cures for others.

“[It’s] just by some genetic twist that we each carry genetic differences that would lead to an autosomal recessive disorder. This could happen to anyone,” he says. “And so I think, one: Many of us are affected. Two: Any of us could be affected… Those who are fortunate to have not had their lives touched by rare disease or neurological disease are very fortunate to enjoy that luxury and have, I think, some obligation to support others who are not so fortunate.”

Especially in the area of rare diseases, there’s so much work to do. There is so much we still don’t know about the brain. But by studying all brain diseases and the connections between them, researchers are able to unlock insights that are wide-reaching and carry implications for multiple diseases—bringing us closer to cures.

The American Brain Foundation is committed to finding cures for all brain diseases and disorders that affect 1 in 6 people. Our whole-brain approach recognizes the interconnectedness of brain diseases and supports innovation through research by the best and brightest in the field of neurology. We know that when we cure one brain disease, whether prominent or rare, we will cure many. Donate today to make a difference. With your help, we won’t have to imagine a world without brain disease, we’ll be able to live in one.

A young woman learns to navigate life as a caregiver for parents impacted by brain disease

With a large age gap between herself and her siblings, Mary Jo M. grew up almost like an only child in her loud, close-knit Italian family. She was close with both her parents and recalls her dad’s strong work ethic from his years of running a business in the meat-packing industry along with her mom’s caring personality and award-winning Italian frittatas. “I’ve looked up to [my dad] my entire life and my mom has been my rock,” Mary Jo says. “She’s gotten me through a lot of learning disabilities and fought for my education my entire life. So they’re my lifeline.”

But in Mary Jo’s early 30s, brain disease forever altered that relationship. Within just a few short years, her father suffered a subdural hematoma, was diagnosed with diabetic neuropathy, and experienced a stroke, and her mother was diagnosed with Alzheimer’s and dementia. Recently married and starting a new job across the country, Mary Jo had to put her dreams for her future on hold and adjust to being a caregiver for both of her parents.

The First Signs

The first signs of her father’s cognitive change are more apparent in hindsight. Mary Jo remembers her dad suffering some falls that the family initially wrote off as clumsiness. But one day, he started walking awkwardly. “He must have hit his head or fallen and hit his head. And we didn’t know. And he didn’t tell us,” says Mary Jo.

Her father asked to be taken to the hospital, where he was diagnosed with a subdural hematoma and rushed into surgery. “There was so much blood on his brain that it had shifted his brain in his skull,” says Mary Jo.

After a six-month stay at the hospital and a rehabilitation facility where he relearned how to talk, use his hands, and walk with only a bit of a lag on the left side, Mary Jo’s father was able to return home.

While her father went back to his daily life, about a year after his surgery, he began to experience more symptoms. When her father would stand up, his blood pressure would drop significantly. He would shake and turn white, sometimes even passing out. And it kept getting worse. “We didn’t know what was wrong. We kept on telling the doctor something is wrong. Something is wrong. Is it cancer? Is it Parkinson’s? What’s going on?” she says.

He received a diagnosis of diabetic neuropathy. “Diabetic neuropathy is when your nerve endings are just not speaking to each other anymore, so you can’t regulate your blood pressure. And now looking back… maybe those initial falls were the first signs of diabetic neuropathy really setting in,” says Mary Jo.

Within the past year, her father has also suffered a stroke. Again, he had to relearn everything he had regained after his traumatic brain injury—including speaking, walking, and swallowing.

Around the time of her father’s subdural hematoma, Mary Jo’s mother also started to show the first signs of cognitive decline. “It wasn’t really showing in big aspects outside of anger, social distancing herself, traditional beginning signs of dementia and Alzheimer’s,” says Mary Jo. But things got more serious one night when her mother was driving home from the hospital. What should have been a 10-minute drive within the suburbs turned into her mom getting lost and driving much further.

Choosing to Come Home

“I was on a train going back to New York City to Penn Station when I got the call from the doctor that, yes, it’s dementia and Alzheimer’s,” she says.

“I had a choice at that point to either stay in New York and continue to work with food manufacturing facilities… or to come back to Chicago and be with my family,” Mary Jo says. She started by taking six months off from work to figure out how to take care of her parents.

Mary Jo remembers being in “a very dark place”—unsure what to do, stressed beyond belief, and afraid of the future. She had so many questions: “Who’s going to be the power of attorney? Are they allowed to make decisions anymore for themselves? Who’s going to talk to the doctors? Because they’re not going to tell the doctors what’s going on. Who’s going to make sure that my mom doesn’t walk out of the house in the middle of the night? Who’s going to make sure that my dad doesn’t fall? All these things. ”

Ultimately, she moved home and became her parents’ caregiver, working closely with a personal family caregiving team and therapists. “There was a period of time where I was contemplating ending my career and taking care of my parents, which I know my parents would never want me to do,” she says. “They fought way too hard for me to give up everything I’ve fought so hard to get.”

How Life Has Changed

In only a few years, Mary Jo’s life turned upside down. The mother she grew up with is no longer there. As her Alzheimer’s has progressed, her mother is no longer able to do the things she used to love, such as cooking, ceramics, painting, or seeing the world. She is unable to have a meaningful conversation with her daughter, to offer her support, or to celebrate family milestones.

Mary Jo says, “It’s devastating to have the one you love right there and you can’t even talk to her and tell her about your day.” She compares her time with her mother to taking care of a small child. “It hurts when I have friends who have so many great things that they do with their mothers… and I can’t. I’m just trying to keep her alive.”

The loss of her mother’s friendship and knowing she can’t share in Mary Jo’s day-to-day life is hard. “And she’s there, right? She’s smiling, but you can’t talk to her,” she says. “And some days she doesn’t know your name and some days she might shove you or push you. And the anxiety worrying about her—people just don’t understand it until they live it.”

Mary Jo also feels a sense of loss in her dad slipping away. “You have to understand this guy came here when he was 12 years old from another country,” she says. “He has been the foundation and our head of the house, and to have that suddenly be in question as to what’s going on and what’s going to happen is completely devastating.”

Her parents, who always loved to travel, have lost the opportunity to see the world in the golden years of their life. They aren’t able to be an active part of their grandchildren’s lives, and Mary Jo relies on telling her children stories to communicate how amazing her parents truly are.

Now at 35 years old, she’s transitioned from the role of daughter to caregiver. “They’re a responsibility that I have to take care of as they have taken care of me. I owe it to them to be who they were for me,” she says.

Advocacy and Sharing Her Story

Mary Jo hopes that sharing her story will help others and give some meaning to what has happened to her family. “Sharing this experience…and the heartbreak that we’ve experienced, is important because not enough is known, and there are not enough advocates,” she says. “When people get dementia or Alzheimer’s or have a stroke, families go quiet. They don’t want to talk about it and they don’t want to live it in the open publicly.”

She also hopes to help others recognize the early signs of dementia. “I wish people understood that dementia and Alzheimer’s can start without you even realizing it,” Mary Jo says. “When people hear me talk about my parents, sometimes they recognize signs in their own parents, or in themselves. And because of that, they’re able to get the help that they need earlier, or do things to keep their brains healthy.”

The support of friends and family has helped Mary Jo through the challenges of caregiving. What has made the biggest impact? When other people simply listen and help when they can.

Importance of Research in Brain Disease

When she sees other families, Mary Jo finds herself thinking about how someday, so many people will be impacted by brain disease. “We all love our families and friends,” she says. “And by understanding how diseases work, and how we can maybe prevent them, we can improve the quality of life for millions of people.”

In the meantime, she holds onto the little moments that simultaneously uplift her spirits and break her heart. “It’s the joy in, ‘Oh my gosh, she remembered this! Can you believe it?’” Mary Jo says. “Or she’s saying these silly, funny things now that she never said before. It’s adorable, but at the same time, the only reason you’re getting that is because she’s cognitively fading. So it’s a heartbreaking kind of joy.”

Read another story about dementia from a caregiver’s perspective.

The American Brain Foundation is committed to finding cures for brain diseases. Donate today to make a difference. With your help, we won’t have to imagine a world without brain disease, we’ll be able to live in one.

After three craniotomies to remove benign brain tumors, this active photographer is navigating life with the help of his partner

A set photographer, avid cyclist, speed skating team member, and father of three, Matt was living a full, active life. But in 2010, he began having unusual episodes. The first one happened while he was out on one of his daily 20-mile bike rides.

“On that particular day… I started getting this incredible pulsing,” he says. “And then I got tunnel vision, where I could only see maybe 10 or 15 percent of what was directly in front of me and everything else was gray. And then it went away 20 minutes later.” While Matt thought it was odd, he chalked it up to making too much of a physical effort.

Tracking Symptoms

Then the episodes began happening more frequently. About once a week, Matt experienced a pulsing shadow on the left of his visual field that created an effect like a whirring ceiling fan with a light behind it. He kept notes about how often this would happen, the date, and how long it lasted. Initially, his general practitioner thought Matt might be having focal seizures or migraine symptoms.

“I finally got referred to a neurologist who said, ‘I wish all my patients were as good as you had been about keeping notes,’” says Matt. “Because he said, ‘Before I even send you in for an MRI, which I’m going to do, I can pretty much tell that you have a brain tumor.”

A Diagnosis and Treatment

While the news was scary, Matt was ready to face it head-on. “I had to put it in perspective and there was nothing I could do to change that directly,” he says. “There was no way to control it.”

Matt was officially diagnosed with meningiomas, which are tumors that grow from the membranes that surround the brain. While they are often benign, the growth of these tumors can put pressure on the brain. Thus they can cause symptoms and potentially affecting a person’s ability to work or function the way they normally would.

As an active person, Matt’s meningiomas impacted his daily life. “I was really angry,” he says. “Why should I get tumors? I eat healthy, I do everything healthy, I work out… I wanted to know why, and there is really no why. It happens.”

Over the past 11 years, Matt’s treatment has included three craniotomy operations to remove five tumors, as well as radiation and chemotherapy. The tumors were found to be pushing on his occipital lobe, the part of the brain that interprets vision, and his parietal lobe, which helps in spatial awareness and other important functions. Following the third surgery, Matt began experiencing more struggles in his daily life.

“About three months after my radiation treatments, I started losing my balance,” Matt says. “I started feeling dizzy all the time. And I wasn’t sure what it was because it came on over the course of two or three days. And I thought, ‘Well, I just have some kind of virus and it’s going to go away.’ But it never went away.”

None of Matt’s doctors can say whether his vertigo and balance issues are permanent. These symptoms not only make it tough for Matt to continue skating and cycling as he had previously but also affect his work as a photographer. It’s now two years after his last surgery, and Matt estimates that only about a third of what was affected has come back. So he’s learning to live with his brain disease and keeping a positive outlook.

Working in a Visual Career

In returning to work, Matt found ways to compensate for his visual difficulties. But one day while working on set during a fast-moving fight scene, he got into a scary situation. “Because of the way that I now see things post my last surgery, it’s hard for me to see someone over there and remember in fact that they’re over there when I’m looking back at something else,” he says. “I got in the way during one of the takes and I could have gotten hurt. I could have been knocked down, I could have had a blank shot at me.” Shaken after that incident, Matt was asked to take a break from work.

Matt’s partner Angela recognizes the physical demands of his job. “He’s cut back because he needs more downtime in between. It’s physically demanding, it’s mentally demanding. It’s visually demanding. And that’s exhausting for his brain to adapt to… He is working three times as hard as a neurotypical person.”

Matt is now in his 60s and his meningiomas have affected his timeline for retirement. “If I feel I can’t deliver or decide that I’m unable to deliver, then I’ll just hang the hat up at that time,” says Matt. “It’s made me probably speed up my retirement from the industry by, I would say, five years.”

Navigating a New World

Matt’s partner Angela provides support and care, but it can be tough navigating all of the obstacles brought on by his meningiomas. “It’s managing this long-term chronic condition that can change at any point,” she says. “Nothing is scheduled or predictable.”

Not only does she help Matt complete some daily tasks like filling out forms but Angela has also had to adjust to changes in his personality and memory. “There have been some really sad moments where there are things that have been really, really important to me and he doesn’t remember them at all,” she says. “It’s just not there.”

“Essentially you are your brain. And if your brain changes, you are completely different,” she explains. “The person that we knew… to a certain extent died on that operating table. And the person we got back looks exactly like that guy, with a lot more scar tissue on the back of his head. But it’s not the same person, and he is navigating a world that is very, very different.”

A Sense of Loss

Matt continues to do physical therapy to help with his sight and executive function. He has learned tools and strategies to navigate the day-to-day, knowing that his impediments are always there. Still, he continues to stay active in any way he can. However, everyday situations, like walking in a crowd or reading a book, can be difficult.

“It’s been tough for me to count on the way I have perceived things in the past and do it the same,” he says. “I have lost the vision on my whole left peripheral. So, unfortunately,—and this is a really sad part of it—I’m unable to drive, something I depend on… I’ve lost a fair amount of independence.”

Matt feels the greatest sense of loss is in his relationships with his children. “I think, whereas they saw me as the dad and strong and not damaged, now I’m not as strong,” he says. “They can’t count on me as much to help them do things.”

Angela feels these changes too: “Each of us exists within a fabric of interactions, and it’s like you pull one thread out and everybody has to adapt,” she says. “It has created a completely different dynamic because Matt has become more dependent on other people… And that can change on a daily or weekly basis.”

Support for Brain Disease Research

Matt continues to move forward, but he has concerns about developing more tumors in the future. With the scope of his surgeries, he may not be able to have additional operations. This could mean more radiation and less targeted treatments.

Due to their experience, both Matt and Angela recognize the need for brain disease research to make a difference for the individuals and families affected by brain disease. “It’s important to support people with brain disease because it could happen to anybody,” says Matt.

“And so it’s so important to do research on how the brain works, what treatments are effective,” Angela agrees. “There’s just so much we need to know…It’s so important for us to learn as much as we can about essentially the next frontier, which is in our own heads.”

The American Brain Foundation is committed to finding cures for brain diseases. Donate today to make a difference. With your help, we won’t have to imagine a world without brain disease, we’ll be able to live in one.

A family battles two different brain diseases at the same time

In the span of a few months, two different brain diseases changed Michele Fitzgerald’s family forever. For the 43-year-old wife and mother of two daughters, the first blow came when her 4-year-old daughter was diagnosed with pons glioma, a rare and aggressive brain tumor with a six-month survival rate.

Michele and her husband spent much of the next few months in the hospital at their daughter’s bedside. But one day, Michele experienced pain in her head. “It was more than a headache,” she says. “It was like my head exploded.”

She didn’t know it at the time, but a brain malformation she likely had since birth had ruptured. An arteriovenous malformation (AVM) is an abnormal connection between arteries and veins in the brain or spine. Most people who have them, like Michele, are unknowingly born with them. AVMs can rupture, cause bleeding and seizures, and be life threatening.

“I was lucky because it happened at Children’s Memorial Hospital,” Michele says. Because she was already in the hospital with her daughter when the brain malformation ruptured, she was able to receive immediate attention from a nurse who figured out she was hemorrhaging. “I could have been at home alone, I could have been driving my car. I could have been anywhere.”

Doctors were able to stabilize Michele and transfer her to another hospital, where she remained for two weeks. However, the malformation needed to be removed or another rupture could kill her. But Michele was hesitant to have brain surgery that would make her unavailable to her sick daughter. “It was incredibly difficult to be dealing with both of those situations at the same time,” her husband Bruce says.

Devastatingly, her daughter passed away, and Michele knew she had to get the surgery for the sake of her other young daughter and husband.

A Long Recovery

Before her brain malformation ruptured, Michele found remembering things and multitasking easy. She enjoyed a successful career in consulting. She was a voracious reader and enjoyed cooking.

But after the craniotomy, Michele spent many months in recovery without fully understanding what was happening around her. In addition to grieving the loss of her daughter, she experienced drastic changes in the way her brain functioned. She struggled with spatial recognition. She experienced hallucinations. Often, she didn’t know what room she was in and was unable to remember two-step directions.

Her cognitive abilities are still affected more than a decade later. In times of stress, they decline. She once called her husband at work 15 times without any memory of the previous calls. Frequently, her family has to tell her she’s repeating herself. And at first, she didn’t believe them. “They have told me that they felt defensive themselves because I would feel like they were lying to me,” she says. It was hard, at first, to accept that her perception was different than what was happening.

“When someone’s brain is not functioning correctly, it impacts everything in their life. It impacts how they think, how they feel about themselves…how other people feel about them,” says Michele. “It’s a very hopeless and helpless feeling.”

Uncovering a Path to Survival

AVM profoundly changed Michele’s life, and accepting those changes and adjusting to them took time. However, after 18 years and continued appointments with a neuropsychologist, Michele has made a lot of progress. She also learned some tricks to help manage life with her cognitive abilities. “My brain doesn’t function the same way,” she says. “I have a hard time holding on to information depending upon how I’m feeling or what I’m doing.”

To help with her short-term memory, Michele writes notes to herself or saves reminders in her phone. She sets alarms while cooking and often asks her husband to help her remember things. However, despite the challenging path of survival and recovery, Michele has noticed some positive effects in her new changes as well. She has grown to appreciate the people around her more. “I have a lot more empathy than I ever did,” she says.

Her husband Bruce says the trauma they have experienced as a family has helped them appreciate their day-to-day life. “We just appreciate being alive more,” Bruce says. “I think it’s important to talk about it, to make people aware of how devastating the problem can be, yet, that there’s definitely a path to surviving.”

Michele connects with others who have been impacted by brain disease through online support groups. She provides and receives help from others, and through this, has made peace with her new identity.

“I’ve just learned how to think about things differently…I had to start looking at values in myself differently,” Michele says.

The American Brain Foundation funds research across a whole spectrum of brain diseases to improve prevention, treatment, and cures, giving hope to this family and others. With your help we can provide hope and help to future patients and their families. Learn more about how brain disease has affected others through these stories or donate today.

An American Brain Foundation board member outlines his path from a rare brain disease diagnosis to advocacy

Ben LeNail was perfectly healthy until age 40. He lived in Palo Alto, California, raising a family. He loved to explore the natural wonders of Northern California by running, skiing, white water rafting, hiking and mountain climbing.

And then something changed.

Ben, who used to run eight miles with friends, suddenly could barely manage to run a single mile. “There was a heaviness, a lack of stride, and eventually I also started stumbling, which is really another telltale sign that there is almost an electrical short in your body, in your spine specifically,” he says.

He initially ignored the signs, thinking he was just getting old. “What happened to me is very typical of the start of a neurological disease,” Ben says. “The symptoms are kind of small to begin with, and very, very hard to pinpoint to a specific cause.”

But then his wife told him he was “walking funny” and dragging his feet. So she signed him up with a physical therapist. The therapist gave him a reflex test and told him there was nothing wrong with his muscles. But he likely had a neurological condition.

That revelation began Ben’s journey with a rare brain disease. It was a winding path from a two-year search for a diagnosis of X-linked adrenoleukodystrophy to becoming an advocate. It even led to him setting up a foundation and becoming a part of the American Brain Foundation.

In Search of a Diagnosis

Getting a certain diagnosis was anything but easy. His doctors hit a dead end after ruling out the usual suspects, including ALS, MS and Parkinson’s. Eventually, they told him to come back in six months when his symptoms got worse. Then they might have more success.

“The reality is that you hit those dead ends, and then you go home and you sulk,” he says. “You’re like, I have something, I will never know its name, it may kill me, and it sucks.”

After many more tests, Ben finally had a name: X-linked adrenoleukodystrophy. This genetic disease, primarily seen in young males, affects the nervous system by reducing the ability of the nerves to relay messages to the brain. It also causes a shortage of certain hormones, which can cause weakness, weight loss and vomiting.

In Search of Information

After the shock wore off, Ben jumped into education mode and researched as much as he could. He found out the lead author for a lot of the papers was based in France, where Ben came from. He reached out.

“A very, very wonderful trait in many rare disease communities is people are very chummy, very generous with their time, so I got an answer right away from an eminent clinician in Paris, even though I wasn’t even his patient,” says Ben. “He educated me, and then he said, ‘We have a patient meetup in Paris at the end of March.’”

That meetup in 2012 was Ben’s first immersion in the community. When he first saw kids in wheelchairs with feeding tubes and breathing apparatuses, he felt he didn’t belong here. But he changed his mind, and thought, “I actually do belong here. That’s my new tribe, and I have to make friends, I have to talk to people, I have to hear their stories.”

Becoming an Advocate

Ben says the conference in Paris was a profound experience, and inspired him to start a similar foundation, called ALD Connect, in the U.S. in 2013. “I wanted to get educated on the disease and the field, the general field of neurology and rare disease, and then once I felt I had built a lot of know-how, I wanted to share that,” he says.

One of the goals of the foundation is to encourage the pharmaceutical industry to pursue treatment. It does this by showing companies that patients with X-linked adrenoleukodystrophy are organized and hungry for treatment. Having things like a patient registry makes it easier for researchers to create a cohort of patients for clinical trials.

Even so, progress moves slowly, Ben says. When he started the foundation, a company in Massachusetts was in the middle of a phase-two study on a possibly life-saving gene therapy for kids. It took them years to get to that point. Eight years later, the therapy is close to being available to patients. “Some of the foundational intellectual property came out of France literally around 2005, and the therapy is very likely to be approved and commercialized in 2021,” Ben says.

For Ben, the decision to become an advocate came from his desire to connect with others. He also wanted to be a leader. “You can find incredible fellowship and support and solidarity in that community, and so I wanted to not only be part of it, but be a leader in it, a go-to person, a guru, a mentor to people who just got diagnosed and are feeling hopeless and lost and totally crushed,” he says.

Last year, Ben joined the board of the American Brain Foundation to further his impact. “One thing that’s been definitely tugging at me for a long time is scaling beyond rare disease and specifically beyond X-linked adrenoleukodystrophy and understanding some of the fundamental patterns of neurological disease, neural degeneration,” he says.

Ben felt moved by the Foundation’s pursuit of a life without brain disease. “It’s really a very bold and ambitious approach of saying, ‘How can we live a life that is free of these crippling diseases, like multiple sclerosis, stroke, epilepsy that have terrible consequences for quality of life’,” he says.

The American Brain Foundation is committed to finding cures for brain diseases. Donate today to make a difference. With your help, we won’t have to imagine a world without brain disease, we’ll be able to live in one.

In October 2018, Kelly Rodenberg left a massage appointment thinking she’d pinched a nerve in her neck. But later that night, Kelly awoke from a deep sleep thanks to lightning bolts running through her left hand. She looked down to see her hand involuntarily shaking.

Over the next few days, she noticed subtle changes. She had trouble getting her left arm in her sleeve. She cut her thumb while slicing an apple and didn’t feel a thing.

But when Kelly, who worked as an admin for 35 years, saw a trail of Rs on her computer screen that she couldn’t explain, she knew it was time to call her local clinic. She realized that she could no longer feel her left hand connecting with the keyboard.

When she called, she was told it was a three week wait to get an appointment. A few hours later, she got a call from a nurse who read the transcript of her call and urged her to see a neurologist.

Within just a few days, Kelly would get a life-changing diagnosis of glioblastoma, undergo major brain surgery and begin a lifelong journey. We spoke to Kelly about her journey with brain disease and how a healthy dose of humor helped her through.

A Critical Diagnosis

When Kelly saw the neurologist, he asked her to do some very simple things. This included flexing her hand, smiling really big, and walking in a straight line. The neurologist noticed her mouth drooping a little bit on the left side, and she was walking a bit crooked. “And I had no idea,” she says. “That’s how subtle it was.”

An MRI confirmed a golf-ball-sized tumor above Kelly’s right ear, which was affecting the left side of her body. The tumor was a glioblastoma, a rare and aggressive type of cancer occurring in the brain or spinal cord. “You sit up in your chair a little bit straighter when the neurologist starts talking about your lifetime in months versus years,” she says.

The neurologist wanted to do surgery as soon as possible. Kelly and her husband opted to get a second opinion at Mayo Clinic because Kelly’s husband got treatment there. The surgeon there told her he didn’t think waiting a few days would make a difference. “From a patient standpoint, we were placed at ease,” she says.

The neurologist told Kelly that even with surgery, there was only a 50-50 chance she would regain movement in her left hand. While he didn’t think the impairment would get any worse, he also didn’t think it would get any better.

The surgery itself was very successful. She was able to go home less than 48 hours later, which is not always the case after brain surgery. The next month was a brain resting period, and then Kelly started chemo and radiation.

Finding the Light and Love

Kelly says her darkest days during the whole ordeal were during radiation, which lasted five days a week for six weeks. Kelly began to feel depressed. Even the thought of getting out of bed to brush her teeth felt overwhelming. So she searched for an outlet. “I ended up just sitting down at the computer and writing a book,” she says.

For Kelly, it was about finding the good in a tragedy, finding the light and love in a heavy diagnosis such as glioblastoma. But it was also about processing her experience with her signature good humor. The book, titled “There’s Something Going On Upstairs: Learning to Laugh My Way through a Cancerous Brain Tumor, One Chemo Cycle at a Time,” is part memoir, part patient roadmap and part comedy.

She writes in the book’s prologue: “About fifty people have encouraged me to write a book. No, I haven’t literally been keeping track, but after dozens of nudges, I began paying attention.”

Writing her book gave her reason to wake up and allowed her to process all that had happened. It also gave her a chance to write the humorous, insightful book she wished she could have read while navigating glioblastoma.

The positive response to her book showed Kelly that she had filled a need. She had helped people like she set out to do.

Life as a Survivor

Just like the neurosurgeon at the Mayo Clinic predicted, the movement in Kelly’s left hand didn’t get any better. “It’s not any worse, but I still have zero use of it,” she says. It makes day-to-day activities, like driving, more difficult. Even folding a load of clothes takes three times longer than it ever did.

More than two years removed from her surgery, Kelly still feels uncertainty about the future. “I still feel that life is lived MRI to MRI, in eight week chunks,” she says. “Until you get that validation or check of approval that, OK, your MRI was good, you don’t plan all that far out.”

But Kelly has come to accept and even embrace her new life. “You learn to appreciate every day, every moment. You burn the candles, you use the good dishes, all that kind of stuff that I didn’t honestly think that much about before October 2018.”

Kelly’s struggle with an invisible disease such as glioblastoma also fostered more empathy. “Nobody can see it. It’s not a cast, it’s not a crutch, it’s not a wheelchair,” she says. “People walking down the street would never guess that I had a brain tumor. It’s just opening up your heart a little bit more and trying to see what people go through, even though it’s not visible to the human eye necessarily, and everybody needs a lesson in that.”

Kelly has taken that increased empathy and turned it into a passion for patient advocacy. She’s active in online patient communities and before COVID-19 she was doing free speaking engagements at long-term care facilities to educate residents on strokes and brain tumors.

She urges patients to give themselves time and grace. “The biggest thing that I could encourage other glioblastoma patients is just to be patient with yourself because it is a very life-changing disease,” she says. “Once you wrap your brain around that it’s something that’ll never go away, I think you give yourself more grace because it will be with you for life.”

As part of her advocacy, Kelly regularly sends copies of her book to people she’s met either in person or in online patient communities. She always inserts the same bookmark with a quote: We can’t always choose the music life plays for us, but we can choose how we dance to it.

For Kelly, that means turning a life-changing diagnosis into a way to connect with other individuals living with a brain tumor and help them navigate the path a little bit easier.

The American Brain Foundation is committed to finding cures for brain diseases. Donate today to make a difference. With your help, we won’t have to imagine a world without brain disease, we’ll be able to live in one.

A daughter moves through a delicate dance as caregiver to her father with Lewy body dementia

Nancy Poland remembers the day she shifted into a caregiver role for her father with brain disease, Lee. It was 2005. The two met for lunch at a sandwich bar near their respective offices in Minneapolis. Lee handed her his checkbook and said, “Take this. I can’t figure it out anymore.”

While Nancy and her sisters had noticed their father had become more forgetful, she was shocked to discover Lee was $8,000 in debt and his business was barely making any money. That lunch marked the beginning of Nancy’s journey as a brain disease caregiver—one of ups and downs and lessons learned.

A Delayed Diagnosis

Lee was a street-smart, outgoing businessman who loved to tell stories. So it was difficult for Nancy and her three sisters to watch their father’s decline without knowing the cause. Doctors only diagnosed Nancy’s father with Lewy body dementia (LBD) in 2012, shortly before he died. Unfortunately, LBD can only be definitively diagnosed with a brain autopsy after death, so Lee’s delayed diagnosis is common.

Several years earlier, in 2005, Lee had initially been diagnosed with vascular dementia. At the time, Nancy and her family felt relief it wasn’t Alzheimer’s. “We thought, ‘Well, we can live with this. He needs some help, but he can still function,’” Nancy says. “But then he got worse… We didn’t know what was in store for us.”

Nancy’s parents took care of each other until the end. “[My mother] had the mental faculties, but she had a lot of physical problems,” Nancy says. “She had really bad back trouble and she ended up with kidney cancer, so he took care of the physical things. He would get their toast ready in the morning, and she would do their pills and plan the little meals.”

The Role of Caregiver

Over the years, Nancy watched her father’s condition get worse. Although Lee’s memory seemed intact, his thinking and self-control was not. He couldn’t process information in the same way. Nancy stepped in to help organize her parents’ lives, taking on their financial affairs and legal paperwork, as well as house repairs and maintenance. She also drove her father to and from his office, bonding over coffee and stories of his childhood on the way.

Near the end of his life, when Lee wasn’t able to move his body, he still seemed to recognize his daughters. “They said he was a functional quadriplegic. It’s not that his limbs wouldn’t move, but that his brain wouldn’t connect with his limbs to tell him what to do,” Nancy says. “We were pretty sure he knew us, because he’d get tears in eyes when he saw us and he would react to us, but he could barely say even a word or two.” Seeing her father like this—such a contrast to the friendly, entrepreneurial storyteller she knew—was horrible.

During this time, Lee’s daughters each played a unique role in caregiving. Nancy acted as the administrative one, using her experience in government and nonprofit work to apply for medical assistance and complete paperwork. Her older sister offered her caring, sensitive nature as the one to stay by their father’s side and attend to his needs. Another sister is a therapist who works in rehabilitation with people with head injuries. Despite living out of state, she understood the medical language and wrote letters to Lee’s doctors. With Nancy acting as the hub, the sisters worked together to care for their father.

It was a lesson for Nancy—everyone can contribute to caregiving by drawing on their strengths. “I just learned that we all have our gifts, and that was my gift to be able to organize things and keep things in order,” she says. “Even though I would like to be like my sisters, they’d probably like to be more like me. We’re all given gifts for a reason.”

Caregiving as Dancing

As a writer, Nancy felt she had to share her experience. But it didn’t happen right away. “It just takes a long time for your brain to process things and to grieve,” she says. The resulting book, Dancing with Lewy, not only includes Nancy’s story but also several of her father’s poems, which give a first-hand perspective of the man he was.

The title of the book alludes to how caring for someone with a brain disease requires a delicate balance. “It’s hard to be direct, especially with my father who was like, ‘You’re not going to tell me what to do’,” she says. “I just feel like it was a constant dance, with him taking a step and me taking a step, and sometimes we danced in harmony and sometimes we were miles apart.”

Dancing with Lewy also serves as a resource for others who are touched by brain disease. Nancy’s most important piece of advice for brain disease caregivers: Don’t do it alone. “You’ve got to get your rest,” she says. “No matter what your financial situation, there’s probably going to be help out there… Just don’t do it alone, because burning yourself out is not going to help anybody.”

Nancy tried to take one day each week for herself, a day when she wouldn’t visit her parents, and also planned a couple much-needed vacations, trusting her father was in good hands while she was away. Through her experience, Nancy knows that leaning on family members and other resources allowed her to maintain the strength she needed to continue caregiving.

The American Brain Foundation is committed to finding cures for brain diseases. Donate today to make a difference. With your help, we won’t have to imagine a world without brain disease, we’ll be able to live in one.

A high school English teacher shares her long journey to a diagnosis of Lewy body dementia

In 2008, Maureen Kessler started experiencing a confusing array of symptoms that began with mysterious pain all over her body. The pain, along with noticeable changes in her memory, impacted her ability to work and her relationships with family and friends.

In her search for relief, Maureen went from specialist to specialist for years as they treated seemingly random, disconnected symptoms from brain fog and headaches to hallucinations and high blood pressure. Her diagnoses were just as varied: fibromyalgia, hypertension and, finally, Parkinson’s disease.

While “Lewy body dementia” had been brought up during several doctor visits, Maureen’s neurologist was initially hesitant to diagnose her because the disease typically affects older people. It was only after she found out she had cancer seven years later and her doctor completed a full medical history that she received her diagnosis.

Lewy body dementia is the second most common form of dementia and affects more than 1 million people in the U.S. But the disease is not well understood and getting a diagnosis can be difficult. Many people aren’t diagnosed until after their deaths.

Read on as Maureen shares her journey to a diagnosis, how Lewy body dementia has affected her life, and why it’s important to raise awareness about this disease.

Affecting Every Part of Life

When her Lewy body dementia symptoms first began, Maureen was a passionate high school English teacher raising two kids and caring for her aging parents. The brain fog, memory loss and other symptoms made it harder and harder to teach. “It just seemed like I was losing control of something that I was very good at,” she says.

Once a passionate organizer, Maureen began entering the classroom with sticky notes on her hands to remember things she used to not even have to think about. She even found herself forgetting the names of characters in books she had taught for years. “The students were finishing my sentences,” she says.

At this time, Maureen received the chance to be a reading specialist for the high school and run a whole new reading program. Despite her excitement about the opportunity, she knew it wasn’t possible with her symptoms. “I said, ‘I can’t even teach. I can’t do this.’ I just couldn’t do it anymore, and I didn’t know what to do,” Maureen says.

The same year she retired from teaching and applied for disability, Maureen’s husband and father died, and a few years later, her mother died. At the time, her undiagnosed Lewy body dementia made those losses even more isolating. The years of unanswered questions and troubling symptoms strained Maureen’s other relationships with friends and family. “I’m pretty much totally isolated now,” she says.

A Long Road to a Diagnosis of Lewy Body Dementia

In addition to the initial pain, Maureen developed headaches and issues with her vision. “I started getting some weird lights in the side of my eyes, just a bunch of crazy things,” she says. Still, Maureen continued to put her children and other responsibilities first. “As other symptoms came along, I would try to fit my kids in before me,” she says.

Then one day in late 2009 when she was teaching, something felt wrong. She stopped by her doctor’s office on the way home from school. When they took her blood pressure, they told her, “You’re going right to the hospital. You’re off the charts.” Her list of symptoms expanded to include high blood pressure that was especially difficult to treat.

The disease also manifested in sleeping problems. At first, Maureen’s kids told her she was talking in her sleep. Then they told her she was yelling in her sleep. “My son came in to try to wake me up one night, and somehow I had the remote control in my hand, and I threw it,” Maureen says. “I didn’t know he was in the room.”

Maureen’s neurologist referred her to a sleep doctor, who diagnosed her with an REM sleep behavior disorder. She had been acting out her dreams. It was then that Maureen heard about Lewy body dementia for the first time. But the doctor assured her Lewy body dementia wasn’t the cause. “No, no, no, not you,” she remembers hearing. The sleep doctor told her she was too young. Instead, they believed she had Parkinson’s disease.

But Maureen’s symptoms got worse, and she kept developing new ones. She began to experience hallucinations and short-term memory loss.

The doctor that finally made the Lewy body dementia diagnosis was Maureen’s primary care physician. When she wrote down Maureen’s complete medical history to be sent to the doctors treating her cancer, she wrote down Lewy body dementia right at the top. Maureen felt relief finally having a diagnosis that captured the scope of her experience.

Over the next six months, she underwent surgery, chemotherapy and radiation treatment to beat cancer. But unlike with Maureen’s cancer, there is no surgery or treatment to remove the Lewy bodies. “I’d take cancer again and again if Lewy would go away and let me have myself back,” she says, “I am a completely different person now.”

The Importance of Awareness

Maureen has never met anyone else with Lewy body dementia. She shares her story so that others might know what it’s like to live with this disease. “I felt that I just wanted to offer something to this community that I hadn’t been able to find really,” she says. “Also, I don’t want this all to be for nought.”

Maureen knows that her delayed diagnosis affected her treatment options and care. “With Lewy body dementia, the earlier you catch it, the more you can be aware and get tools to help you cope with living with this,” she says. “But now, I’m past that point.”

She sees parts of herself in what happened to actor Robin Williams. He was thought to have Parkinson’s disease and was only diagnosed with Lewy body dementia after his death. “This sounds so familiar,” she thought to herself as she watched Susan Schneider Williams speak about her late husband’s symptoms.

Susan Schneider Williams is now the Vice Chair of the American Brain Foundation and raises money for the disease through ABF’s Lewy Body Dementia Fund. The Fund supports innovative research projects searching for a biomarker to improve diagnosis and treatment.

Maureen understands the power of this research. “The more research, the more awareness and the more knowledge, the more quickly you get results,” she says.

The American Brain Foundation is committed to finding cures for brain diseases. Donate today to make a difference. With your help, we won’t have to imagine a world without brain disease, we’ll be able to live in one.

A hard-working man describes the struggle and strength in his experience recovering from epilepsy

For the first 32 years of his life, Joey Gaines had seizures from epilepsy. He had seizures that changed his level of awareness and others that made him lose consciousness completely. He had two massive seizures during his teenage years that resulted in days-long comas and extensive memory loss.

With the help of his doctor, Joey was able to keep his epilepsy relatively under control for several years. He built a career as a pipe welder and worked in construction. But before long, the seizures became more frequent and intense—and ultimately untreatable with medication. He was forced to quit his job. According to his doctor, it was a case of life or death, and the only viable option was surgery.

Pursuing Treatment

Doctors determined that the part of Joey’s brain responsible for his seizures was in his left temporal lobe. This part of the brain is usually the more dominant lobe and is responsible for speech and motor skills. However, a series of tests indicated that the right side of Joey’s brain had taken over these functions. Doctors ruled that Joey would be an excellent candidate for surgery. In addition, it was possible to remove the damaged area in the left side of his brain.

Joey’s surgery—a left anterior temporal lobectomy—was set for April 13, 1999. Unfortunately, during surgery, surgeons found there was more extensive brain damage than expected. They had to remove the entire left temporal lobe, including the part of the brain that stores personal memories, as well as scar tissue from the seizures he had experienced his whole life. Doctors told his parents that if he survived the surgery, he would likely live the rest of his life in a wheelchair, unable to walk, work, or feed himself.

Miraculously, he was able to not only survive, but thrive post-surgery. For the first three weeks after surgery, he wasn’t able to walk or talk. But with intensive physical therapy, Joey began to regain use of the right side of his body. Only a few weeks later, he was completely mobile. “Seven weeks after having that operation,” Joey says, “I came off the back porch jogging for the physical therapist, walked a half a mile down the road. That morning I’d done 25 jumping jacks.”

Even his doctors couldn’t believe his recovery. About a year after his surgery, Joey visited the neurosurgeon who had operated on him. The doctor was in awe. “All my years in my profession, I’ve never, ever seen a grown man have that much of his brain removed and get up and walk away like he’s never been sick,” Joey remembers him saying.

It’s been 21 years since his surgery. But Joey never regained the memories from the part of his brain now gone. When friends and family show him pictures of who he was, Joey doesn’t remember that man. “He died. I know nothing about him,” Joey says. “I’m 21 years old on the left side of my brain. And I’m 53 years old on the right side.”

Committed to Recovery

Joey’s recovery wouldn’t have been possible without the extreme level of grit and faith he demonstrated each step of the way. He worked hard to succeed. During one appointment, his doctor pointed out what Joey had going for him: his strong faith, his unshakable will, and his positive outlook.

Joey’s ever-present support system was also important. He credits his doctors’ focus on his quality of life to help him achieve the life he has today. That includes looking beyond the stigmas of traumatic brain injury and illness. “The greatest thing I remember most about my neurologist is the heartfelt statement of compassion he said to me: ‘Joey Gaines, if it’s the last thing I do, one way or another, I am going to get you straightened out,’” Joey says.

His family also provided invaluable support during his recovery. Before her retirement, his wife, Linda, was in the nursing industry, at one time serving as nurse manager of a rehabilitation department specializing in brain injury. Since the two met in 2011, 12 years after his surgery, Joey’s recovery has seen significant improvement.

Because Joey’s seizures began when he was so young, his parents always saw him with epilepsy. It came to define him in their eyes. After surgery, however, they had a chance to reconnect and get to know him as they never really had.

For Joey, life before and after surgery paints a stark contrast. “Picture yourself living in a jail cell, 24 hours a day, seven days a week. You can see the outside world, but every time you try to reach beyond those bars, you have an episode of seizures, and it sets you back,” Joey says. “But undergoing brain surgery, it’s like somebody comes and unlocks the door and sets you free.” Despite all the challenges he has faced, Joey finally feels a profound sense of freedom.

An Independent Life

Today, Joey no longer has any seizures, does not have to take medication, and lives an independent life near Nashville, Tennessee. He still works 60 to 70 hours a week in the piping industry because he retained those skills in his long-term memory. Joey drives and has gone skydiving. He even traveled to Austria to share his story at a neurology conference. Besides a hairline crack scarring the left side of his head, people in passing would not be able to tell that Joey has been through something extraordinary.

Sharing his story is important to Joey. He wants to encourage healthcare providers and caregivers to show compassion to people with brain injuries and epilepsy—because that compassion made such a significant impact on his own journey. “The importance of compassion in the medical field can have a tremendous impact on a patient’s life, and results are life-changing,” Joey says.

The American Brain Foundation is committed to finding cures for brain diseases like epilepsy. Donate today to make a difference. With your help, we won’t have to imagine a world without brain disease, we’ll be able to live in one.

Meet the Keene family and learn about their journey with a degenerative brain disease.

Ken Keene Sr. was a “super dad” to his three sons. He was a respected community member and a handy man who could fix anything. For his oldest son and namesake Ken Keene Jr., there was nothing his father couldn’t do. So when his father started forgetting the names of places and things, Ken Jr. chalked it up to aging and short-term memory loss.

Ken Keene Jr. and Ken Keene Sr. working together to fight dementia Ken Keene Sr. and Ken Keene Jr. fighting dementia

However, the signs grew more concerning. Ken Jr. remembers his father reaching out for help more than usual. In addition, he struggled to comprehend everyday things that people take for granted. Just a couple months prior to his 64th birthday, Ken Sr. found out he had frontotemporal lobe dementia, sometimes called Pick’s disease.

 “Not the man he used to be”

Pick’s disease is a rare type of dementia that affects the frontal portions of the brain. Such a disease results in speech problems and personality changes. Dementia describes a group of symptoms related to loss of cognitive function such as thinking, remembering and reasoning. Ken Jr. often describes dementia as an ever-shrinking catalog of thoughts and memories. Eventually it includes only a few things that repeat over and over again.

Ken Sr. knew early on that he was “not that man he used to be,” and parts of his personality slipped away over time. As his father’s primary caregiver for some years, Ken Jr. witnessed his father become more reserved, withdrawn, and less passionate about life.

“Dementia uprooted my father from who he was and everyone who knew him,” Ken Jr. says.

Ken Sr. went from building things with his hands to forgetting the names of his tools and how to use them. He couldn’t remember that the stove was hot, and he needed someone watching him at all times. His circle became smaller and smaller as old coworkers and friends drifted away.

Connecting through Music

As interactions with his father became difficult, Ken Jr. turned to music. “There are certain jingles that you always hold on to,” he explains.

When he was a child, Ken Jr. remembered his father singing the songs of singer-songwriter Bobby Goldsboro. He did that so often, Ken Jr. actually thought the songs were his father’s. When Ken Sr.’s memory went, Ken Jr. fell back on these familiar tunes to connect with his father. “He would look at me and make the connection that I was someone significant in his life,” says Ken Jr. “Although he didn’t know my name and he didn’t know that I was his son, the music really bridged the gap.”

While Ken Sr. didn’t remember the lyrics very well and often mumbled, he still remembered bits of the tempo, harmony and sometimes the chorus. Ken Jr. didn’t care that they were singing the same songs over and over because the music always put a smile on his father’s face.



A Legacy that Lives On

In June 2017, Ken Keene Sr. moved into an assisted living facility. It was devastating Ken Sr. couldn’t stay in the home he maintained for so long. But the family knew it was the best way for Ken Sr. to get the best possible care and live comfortably. Ken Sr. passed away in May of 2020.

After losing his father, Ken Jr. continued to share his father’s story to raise awareness about dementia. On a YouTube Channel he created to document time with his father, he speaks up about caregiver burnout and the need for more research into brain diseases. He wants to find a cure so future generations won’t know the pain of seeing someone they love slip away.

“I believe it is our duty as human beings to share positivity and important information to not only enlighten the general public but more importantly reach the millions of people worldwide who feel they’re alone while caring for their loved ones,” Ken Jr.says.

The American Brain Foundation was founded to bring researchers and donors together in the fight against brain disease. Learn more about dementia and other brain diseases or help us in our mission by giving today.


A dedicated student perseveres after her soccer-related brain injury led to an epilepsy diagnosis

It was Labor Day weekend of 2010 and 16-year-old Sasha Pina was playing soccer. But when she went for a header at the same time as a player on the opposing team, the other player’s elbow hit Sasha on the right side of the head, causing her to lose consciousness while still in the air. She fell to the ground, landing on the left side of her head and was quickly transported to the hospital.

At the hospital, Sasha had an MRI and a CAT scan to determine the extent of her injury. However, as the medical team reviewed the images, her physical condition continued to worsen. The team ultimately identified a skull fracture and had Sasha transferred to the local children’s hospital. She found out she had a lateral skull fracture, a traumatic brain injury including grade 3 concussion, brain swelling, and severe amnesia. During this first stage of recovery, Sasha spent several days in the pediatric intensive care unit. But her medical journey was far from over.

An Epilepsy Diagnosis

A talented soccer player, Sasha was no stranger to head trauma. At the age of seven, she started playing the sport at the recreational level. Later on, she began playing for club and travel teams as well as her high school. During those years, she’d experienced concussions before. Some of them sidelined her, and other times, she played through her symptoms. But this time, her injury was life-altering.

Following the injury, Sasha experienced amnesia, which she describes as both frustrating and kind of scary. “You don’t truly know who you are. So when doctors tell you that ‘this is your mom’ or ‘this is your brother,’ you just have to believe them because you don’t really know,” she says. She spent  half a year in physical therapy, occupational therapy and speech therapy at a brain injury rehabilitation center. Eventually, Sasha was able to recover some of her memories and learn strategies to help her in the future. In the months that followed, she limited her time at school to half-days in order to allow her brain to rest. She also avoided any physical activity that could risk further injury.

But then, ten months after the Labor Day soccer injury, Sasha experienced a seizure while attending a church service. “My mom said that I stood up and I wasn’t responsive to her. And then that’s really all I remember,” she says. “I just remember having this weird feeling. Probably like an aura, but I didn’t know it was an aura then.” After an evaluation at the hospital, Sasha learned she had epilepsy.

Finding Treatment

Over the next few years, Sasha tried as many as seven anti-seizure and rescue medications but continued having uncontrolled seizures. “Life isn’t meant to be lived with taking multiple medications and having seizures you can’t control,” Sasha explains.

After learning about vagus nerve stimulation (VNS) implants during Epilepsy Awareness Day at Disneyland, Sasha did her own research. She then talked to her mom and a year later discussed the device with her doctor. In February 2016, at the age of 22, she underwent a procedure to receive the implant. It’s a pacemaker-like device implanted in the left side of the chest with wiring wrapped around the vagus nerve. The device emits electrical impulses to the brain every five minutes for 30 seconds. This mechanism aims to prevent the abnormal brain activity that can cause seizures.

While the VNS device is a treatment, it is not a cure for her epilepsy. For Sasha, the implant has helped limit the number of seizures she has—now, about one seizure a month with some simple partial seizures, compared to as many as two a week before the implant—and it’s also allowed her to regain some independence. Today, Sasha lives with her mom but says they act more like roommates.

The Value of a Support System

Sasha’s support system has been an important part of her recovery. During her initial hospital stay, she gave credit to the doctors, nurses, and life care specialists with helping her reconnect with family and friends. Because of the brain injury she experienced, she couldn’t remember her mom’s name or how to send a text message. So she placed trust in the medical professionals who stayed by her side.

After her epilepsy diagnosis, Sasha continued to find support in her family, friends, and community. Her grandma had epilepsy, so when Sasha started to have seizures, her family was able to draw on their knowledge and past experience to provide support. “My mom would never let me give up on anything, no matter how tired I was,” she says. “What kind of kept me going was just trying to get back to normal—because you don’t feel normal.”

Sasha points out that her health journey was difficult for some friends because they didn’t know how to handle it. But she also gained new friends through advocacy work. That included her best friend Sierra, who she met at the Epilepsy Foundation of Nevada’s annual walk event three years ago. The two initially connected to talk about VNS treatment because Sierra was considering getting the implant. Soon, they became fast friends. Sasha finds comfort in these friendships with people who understand her experience. “Anyone who doesn’t understand an aura or epilepsy wouldn’t get it. But Sierra understands because she goes through it.”

However, epilepsy does affect Sasha’s daily activities. Unlike other people her age, she’s not able to drive and has to live her life on other people’s schedules. Her brain injury and post-concussion syndrome also cause memory issues, which can impact her at school and work. Sasha makes an extra effort to stay focused, take diligent notes, and eliminate distractions. She often fights fatigue and loss of concentration using memory strategies learned in therapy. She also continues adapting to find the best way forward.

Sasha Pine undergoing VNS surgery for epilepsy Sasha Pine after her VNS implant surgery for epilepsy

Dedicated to Helping Others

Currently, Sasha works as a nursing assistant and is in school to become an electroencephalogram (EEG) technician specializing in pediatrics. Sasha’s decision to pursue this career was influenced by her own experiences as a patient. She knows how scary the tests can be for young children, especially the first time. So she wants to make that part of the process easier.

Soccer used to be a big part of Sasha’s life. But after fracturing her skull, she had to give up the sport. To fill the void, Sasha has turned her focus to advocacy and participation in the different organizations she cares about, like the Epilepsy Foundation of Nevada and The Danny Did Foundation. Her number-one hope is a cure for epilepsy. She knows that research on brain disease will help get one step closer to that cure. Not only is Sasha an organ donor, but she’s also a brain donor. “I feel like research is very important when it comes to the brain because there’s so much that we don’t know about it,” she says.

That’s why Sasha is passionate about sharing her story—to educate others and to give people hope. She urges others who have epilepsy to do the same. “Don’t live in fear. And don’t hide your diagnosis because it’s nothing to be embarrassed of,” she says. “It’s nothing to hide because there’s other people out there that have epilepsy, and there’s other people that may experience what you experienced. So sharing your story will help someone else.”

The American Brain Foundation is committed to finding cures for brain diseases. Donate today to make a difference. With your help, we won’t have to imagine a world without brain disease, we’ll be able to live in one.

A mother shares her journey recovering from a Moyamoya-induced stroke

Orlena Shek had never heard of Moyamoya, a rare disease caused by blocked arteries in the brain, before. At least, not until she experienced a massive hemorrhagic stroke caused by it in 2011. She had been driving on the highway with her 21-month-old daughter when her movements behind the wheel suddenly became erratic. Orlena knew something was wrong and tried pulling her car over to the side of the road. However, she lost control and hit the central divider. A nearby good Samaritan helped her contact her nanny and other family members, who helped Orlena and her daughter both get home safely. But once she was home, she knew something still wasn’t right. Orlena called 911 right before she collapsed and got rushed to the emergency room.

The Moyamoya Diagnosis

Looking back at that night, Orlena notes how lucky she was to have received her diagnosis of this rare disease. It just so happened that a Neurosurgeon who practiced under the world’s leading Moyamoya neurosurgeon in the world was on duty. They recognized the signs right away. Moyamoya is an extremely rare progressive cerebrovascular disorder caused by blocked arteries at the base of the brain. As the blood vessels narrow and become blocked over time, it increases the risk of stroke.

Five months later, Orlena received two bypass brain surgeries only one week apart. She spent six weeks at the hospital and more than half of that time in a medically induced coma.

Learning how to live again

While the surgeries saved Orlena’s life, she had to re-learn how to live it. She spent almost half a year in and out of hospitals. She also attended three different rehabilitation centers to learn how to walk and talk again. Her daughter, who was 19 months old at the time of the accident, grew up fast in those six months without her mother.

Now, post-stroke and post-surgery, Orlena has weakness on her left side and walks with a cane. She’ll likely need to wear a brace for the rest of her life, but still looks on the bright side—“That’s why I have Nike® Free shoes in every color,” she often jokes when sharing her story.

During her recovery, her colleagues and other members of her support team, “Team Orlena” folded 1,800 origami paper cranes—a symbol of good fortune. The cranes still hang in her living room to remind her of her progress. Since then, Orlena has adapted to each challenge with perseverance and grace. She took on the challenge of learning how to take stairs, recovered from knee surgery, and even gave birth to a second child. She also worked to regain a large part of her independence.

In 2019, she received the good news from her neurosurgeon that her Moyamoya vessels were disintegrating and will eventually disappear. This makes the chances of another stroke highly unlikely.

Advocating for others

Over time, Orlena has become a Moyamoya advocate, sharing her story to raise awareness of this rare disease that affects one in a million people. She also uses her patient experience to advocate for accessibility for those with disabilities. When her therapeutic gym was on the brink of closure, she attended a town hall held by the city to advocate for it to stay open. She explained that its adaptive equipment was vital to people with disabilities. Orlena received a standing ovation, and the gym remained open.

Orlena now frequently speaks in the community to raise awareness about stroke survival and rare brain disease. Her goal is to inspire  others, especially young mothers, that there can be life after stroke.

The American Brain Foundation is committed to finding cures for brain diseases. Donate today to make a difference. With your help, we won’t have to imagine a world without brain disease, we’ll be able to live in one.