Patient Stories

In 2008, as I was preparing to drive to work at Conneaut Valley Elementary School in Conneautville, PA, I felt an overwhelming exhaustion. At the time, I lived in Lake City, PA, a half-hour away from work. I assumed my fatigue was due to years of juggling multiple responsibilities—working multiple jobs while attending middle school, high school, and eventually undergraduate and graduate programs.

At 39, I experienced my first seizure while at work. I don't remember collapsing, nor do I recall the respiratory arrest or the week-long coma that followed. Unlike Todd, I had excellent health insurance and a supportive superintendent whose daughter also had epilepsy. However, as my seizures continued, I sought answers from specialists, eventually landing at the Cleveland Clinic. Genetic testing revealed the unthinkable: I had CADASIL, a rare and incurable genetic condition. The doctor's prognosis was grim—just 2 to 10 years to live.

Weekly seizures have left me unable to drive, and I rely on deliveries for most of my needs. I feel like a prisoner in my own home, with little support and even less hope. There is so much more to my story, but even recounting it feels overwhelming. I long for the life CADASIL stole from me—a life of independence, connection, and hope.

My husband, Ken, was diagnosed with CADASIL in 2006 after experiencing three strokes. He's 69 now, and we navigate life together through the ups and downs of his vascular dementia. His mother also had CADASIL, so we've seen firsthand how this disease can affect a family.

Friends and family often ask how he's doing, but their responses can sometimes feel dismissive. "I know someone with dementia," they'll say, or "We all lose our memory as we age." While well-meaning, these comments don't truly capture the heartbreak of watching someone you love struggle with something far beyond normal aging.

Recently, I found a small but powerful way to help myself stay grounded. I had a bracelet made that says: DON'T COUNT THE DAYS. MAKE THE DAYS COUNT. On the hardest days, when I feel overwhelmed and alone, I look at that bracelet. It reminds me of what really matters: I'm with the man I love, and every day with him is a gift.

In 1999, I was diagnosed with a rare disease called melorheostosis (non-curable, non-treatable). I thought, "Hmm, okay." That year, I saw 26 doctors. Fast forward to seven years ago, after millions of migraines and numerous blood tests, I was informed that I also have a disease called CADASIL. So now I have two conditions, both non-treatable and non-curable.

I was told I would be in a wheelchair by the age of 40 because of melorheostosis, but I refused to accept that. Now I'm 57 and still walking. I've had six surgeries over the years to restore movement in my knee and ankle. To keep my mind sharp, I play games on my phone, spend time with my grandkids, and work on crafts. I also make sure to visit my neurologist as scheduled, and so far, things are going well.

I first met my dad when I was just 6 years old. As I got older, maybe around 10, he told me that Farley's have "thick blood," and that usually around 30 we have to start taking aspirin every day because we are prone to strokes. As a child I brushed it off. No way that was happening to me.

At 27 years old, I woke up and tried to talk to my husband. I realized that what I was saying in my head was not coming out right through my mouth. After a CT scan and MRI I was initially diagnosed with MS—but my new neurologist wasn't convinced. After a lumbar puncture and extensive family history questions, he told me he was pretty sure I had CADASIL. $100 and one genetic test later, the results were in: Positive for CADASIL at 27 years old.

Moving to Ohio and finding my neurologist at Wexner Medical Centers has been amazing so far. She shared my same wonders and concerns and really seems to care for my well-being. I just pray this isn't passed on to my children.

Before 2017, I considered myself a very healthy person who had an occasional migraine—but that year I learned that I had CADASIL, and that I had inherited it from my father. I went to five different neurologists on my path to learning about the disease, how it was affecting me, and what to expect in the future.

When I met and began working with Dr. Fanny Elahi, her positive outlook, work, and knowledge changed my feelings about having CADASIL and gave me hope. I have since shared my diagnosis publicly and launched ProjectCADASIL, a social media project with goals to promote awareness, share important resources and news, and secure funding for new therapies and treatments.

Today, I am hopeful. Gene editing therapy will lead to a cure for CADASIL eventually, and treatments will be developed even sooner. In the meantime, I'll continue doing everything I can to make that day come as soon as possible—for myself, my family, and all other people suffering from this disease.

In June 2015, I suffered a stroke. I had no risk factors, but I did have a history of migraines with aura, and my mother had died at the age of 45. I was diagnosed with CADASIL in August 2015, and my brother was diagnosed in December 2017. Since then, I have been tirelessly raising money for research to find a cure for CADASIL.

I've been an active participant in the Million Dollar Bike Ride for the past five years as well as organizing over 20 other fundraisers. In total my family and supporters have raised over $41,000 for CADASIL research through these events.

In the past four years I've also published four children's books in my Tails from The Parlor series. The proceeds from these books have all gone towards funding CADASIL research. These are model efforts to illustrate how local fundraising teams can make a difference.

My CADASIL story started with my mother, who received her diagnosis in 2008 after entering treatment for headaches and blurred vision—and in retrospect, it also explained what we had observed with my grandmother, who had been afflicted with early dementia. While I was in college, I found I was having word-finding challenges, and a few years later I decided to get myself tested.

I was one of the earliest participants in the CADASIL Consortium study at UW-Madison. The study coordinator and I set up a screening phone call, followed by a baseline visit. The researchers genuinely care about understanding CADASIL and finding a treatment for us.

Being part of the CADASIL Consortium study has made me more hopeful in my outlook about the disease. There are currently over 200 individuals taking part in the Consortium study, but they need greater participation from the community to stay on track with their research goals. I hope my experience encourages others to join the study and help us get closer to a cure for CADASIL.

I am writing this for my late husband. Mark's journey started in 2015. He retired to enjoy his passion for fishing and hunting yet that never happened due to falling into depression and sleeping most of the time. In 2018 he did a few really odd things including driving into oncoming traffic. Finally he agreed to an MRI, and we found 8 strokes. From there, many many tests were done, and the neurologist suggested genetic testing—which came back positive.

Mark experienced dementia, loss of compassion, empathy, logic, interest in things, eventually confusion, and loss of time. Eventually I had to shower, shave, and feed him. In the end he required morphine (Ativan) until 11 days before death. He shut down very rapidly and finally passed very peacefully with his family at his side.

There is a lot more, but this is just some of this awful disease CADASIL.

I was 13 years old when I had my first TIA. I lost feeling in my left hand, left side of my tongue, sight and could not speak properly. I have continually suffered from these since. Being an Australian Citizen, no one over here knows anything about CADASIL. In fact, still today in 2021 I have to get doctors to look up my disease.

At 13 I was told I suffered from Familial Migraines. It was not until 2017 that I finally received the CADASIL diagnosis. In 2018, I spent 9 hours in extreme agony before becoming an extreme emergency with a blood pressure of 353/250. That happened to be my first major stroke. After 3 months of rehab I am mostly normal, except for the continual equilibrium problem and major headaches.

What does get me upset is the fact that I can no longer work at 49 and that I have probably passed it down to my children. I would like to do a fundraising walk over here in Australia—not only to raise funds but to get the message out there about CADASIL.

This patient story is adapted from the foreword of a book of poems (Scud Clouds by David Keller and Eloise Bruce) about their journey since David was diagnosed with CADASIL. David like everyone with CADASIL is in interesting company; it is thought that the Victorian critic John Ruskin suffered from CADASIL.

For David's family it presents very late. David was finally diagnosed in 2011, when he was about to turn seventy. The journey toward that diagnosis was not fast or direct—passing out, hallucinations, loss of executive function and balance. Once he was supposed to pick up his wife at the train station and covered the floor with pots and pans instead. At the time David was working as a carpenter, and he could no longer safely go up a ladder.

David continues to write, though he has trouble with the computer. We decided to make these poems public because there are so many families being affected by dementia of all kinds. The book is entitled "Scud Clouds" and is published by Ragged Sky Press.

Learn more or purchase Scud Clouds: Poems →

My story is one of a single mother who raised four wonderful young adults. I juggled a career, family and survived all the ups and downs along the way. I am currently 53 years of age and was officially diagnosed with CADASIL on September 25, 2018. CADASIL does not define or control me—it is not my story, it's a piece of my story.

My journey began August 31, 2017, when I noticed a slight tingling numbing sensation on the tip of my tongue at work. After an MRI, I received a call saying I had experienced a stroke and needed to go to the Emergency Room immediately. A genetic blood test on September 25, 2018 confirmed: I tested positive for the NOTCH3 gene, CADASIL.

I am very fortunate and blessed to have a great family support group. The hardest part has been the dominant inheritance factor—not only am I getting love and support from my sisters, they too are now faced with making decisions regarding diagnostic testing. I am determined to do my best to help organizations like CureCADASIL.org make awareness of this terminal disease known and publicized.

My husband had his first stroke in his 40s when our daughter was 5. We changed eating habits and tried anticoagulant therapies but the strokes kept happening. The original neurologist basically gave up on us. The VA neurologist actually listened to us and wanted to know why an otherwise perfectly healthy man was having strokes. The test came back positive for CADASIL.

My husband died after his 5th major stroke in 2016; our daughter was 15. The stroke was on his Medulla and took away his ability to swallow. CADASIL caused seizure disorder, memory loss, speech problems, a childlike personality change, reading problems, and getting lost in his own neighborhood. He had a countless number of TIAs.

Karla is a 42-year-old administrative manager in Brazil who has been living with CADASIL for almost two decades. She was 24 when she first started having health problems, starting with high blood pressure, then headaches, forgetfulness, and some loss of strength on her left side. Her doctors thought she had hypertension, or perhaps multiple sclerosis. Then in 2006 she had a stroke, followed by a second event in 2013.

At the same time her mother was also facing health problems, which prompted a series of genetic testing, finally identifying CADASIL in both women. Unfortunately Karla's mother died in 2018, three months after Karla's diagnosis. Karla continues to work, although a third stroke at the beginning of 2018 left her with some cognitive deficits.

"I drive, take care of my house. I am tired, but still working," she says. "I'm still getting used to these new barriers. The commitment of the scientists and knowing that I will make myself available for testing" gives her hope.

The fact that CADASIL is passed on genetically can be heartbreaking for families such as Cayla Carney’s. But the disease that is affecting her, her brother, and mother, has also inspired Carney’s big, Midwest Irish Catholic family to reach out and raise funds so that a cure may sometime be found.

Cayla Carney, 46, was diagnosed with CADASIL in August 2017. While not formally diagnosed because he is so unwell, it is believed her brother Craig Carney, 58, also has it. And her mother, Lois Carney, 76, was awaiting her diagnosis as of early spring.

All had had migraine headaches throughout their lives. But it wasn’t until a couple of years ago that the family heard about CADASIL, as Craig’s health took a steep decline. “He was a real Type A personality and when he went into a big depression it was very clear something was wrong,” Carney said. Craig, who had had a high-powered career in the homebuilding industry, suddenly couldn’t find his way home, to the job site, and couldn’t keep up his apartment. After he started having seizures, the family moved Craig into his parents’ house in Iowa. He is now in a nursing home.

Then in the spring of 2015 Cayla had a stroke. “I pooed-pooed it away,” she said, after a doctor told her it could possibly be traced to an auto-immune disease. “They said I had sticky blood.” But she started seeing a neurologist. She was 45.

Then in May 2017 while she was working at home in Parker, Colo., a suburb of Denver, Carney suddenly couldn’t speak. Before she blacked out, she was able to call her wife, Karen, who called the ambulance. “I spent the next three or four days in the ICU,” she said. “They thought I had a stroke but were unable to find it in the MRI.”

It wasn’t until after talking with her mom, who also had two strokes, that she started to wonder if her problems were connected genetically. She was referred to a University of Colorado vascular neurologist and while waiting for an appointment, started reading up on genetic brain diseases.

She found her symptoms and medical record findings were similar to Lois’ and Craig’s, with the phrase “hyper intensity” cropping up frequently. She underwent genetic testing and in August 2017 was diagnosed with CADASIL. “It fit like a glove,” she said.

Today Carney is unable to work at her former job as a large loss insurance adjuster. “It required a high level of technical knowledge and I had a hard time focusing on the details. And my balance is off.” She is considered disabled. Two overwhelming symptoms Cayla has experiences are migraines and fatigue, affecting everyday life.

Through the difficult times she maintains a positive attitude. “I know how important it is to keep my stress level down; I’m trying to do all the right things.” She is also volunteering with dementia patients and is becoming active in the rare disease community. Cayla was able to attend a Colorado Rare Disease Day event in 2018 to advocate for CADASIL.

Cayla’s Uncles in the Carney family have been busy planning and advocating for CADASIL on behalf of her family, they also had a story published in the Cedar Republican.

We at cureCADASIL would like to thank Cayla for sharing her story with the CADASIL community and for working with Joyce, our volunteer who composed the article with Cayla. We hope story will positively impact the CADASIL community.

I'm 50 years of age now and when I was 38, my wife was pregnant with our daughter. After an outing one day, two fingers on my right hand went numb and then the tip of my tongue went numb and I could not speak properly or understand what my wife was saying. This lasted for a few minutes and resolved. My doctor was certain I had Multiple Sclerosis. After a lumbar puncture ruled out MS, an MRI revealed extensive scarring on my brain—the aftermath of many ischemic events I had no knowledge of.

I was confirmed as having CADASIL—a very rare genetic disease that affects the micro blood vessels in the brain. I'm having issues with executive functioning and was involved in a study at Health Science Center in Winnipeg, Manitoba, Canada for people with brain injuries. I'm not looking for sympathy, but rather a way to educate others and bring awareness to this disease.

Although I expected to hear that I had CADASIL, actually being diagnosed was still tough to swallow. Once I thought about it, though, I realized that nothing has really changed. Yes, I have it. Does that make me any different than I was before the diagnosis? Absolutely not.

Since it's a condition we are born with, why should me knowing change who I am? The only difference is that now I know, so I have the opportunity to make healthier decisions and try my best to avoid stress and things that can expedite symptoms. I believe a positive attitude plays a huge part in being healthy. I believe there is hope.

We can't control the disease, but why give in and let it control us? Make the most of the positives in life and take control of what you can. Accepting I have this disease isn't the same as embracing it. Every day is a blessing. Nothing is promised.

I was officially diagnosed with CADASIL on Oct 10th, 2012. I am 40 years old and show no symptoms of the disease at all. My mum is 60 and was diagnosed with CADASIL two years ago after lots of guess diagnoses from doctors. My mum has had four strokes and several TIAs, suffered with migraines, numbness, severe depression, and mood disorders since I can remember. My granddad died at aged 64 from a massive stroke.

I feel like I'm living with a time bomb inside me—not sure when or if it's going to go off. I did give up smoking on "results day" and am still not smoking. I'm doing all I can to lower my risk of stroke. I don't wear bracelets so I have a CADASIL medic alert tattooed on my inner wrist/arm to alert medics not to give me thrombolysing drugs in case of stroke.

I was diagnosed with CADASIL three years ago when I was 37 years old, after suffering a TIA at work. I had always known something was not quite right after my first complex migraine at age 16. My mum has advanced CADASIL, and both my uncle and grandfather have died from it.

I had a nervous breakdown when I was diagnosed, and it has taken two years to come to terms with this. But knowing my life will be different than how I imagined it would be has made me grab my life by the throat, live every day, plan for my future, love my friends and family, and never take anything—especially my health—for granted. It has given me the drive to develop my own business and sort my life out. Knowing I have this has changed my life more than I ever thought it would, but I'm not going to let it ruin it just yet!

In 2001 when I was 25, I was working out at a local gym when I started to feel like my arm and legs were falling asleep. The numbness was moving everywhere on my right side. At the nearest ER, I was diagnosed with a complex migraine and sent home. A neurologist referred me to a specialist who ultimately diagnosed me with probable MS—but a few months later he called to say he'd heard about a "new" disease. A skin biopsy came back positive and then the blood test came back positive for CADASIL. I was so happy that I didn't have MS. But then my doctor started explaining CADASIL: "Sonia, this is rare. Really rare."

It was May 2004 when I received my positive CADASIL diagnosis. In July 2004 I had my first stroke that paralyzed my right side. While in the hospital, we found out I was pregnant. My healthy baby boy was born by caesarean section in March 2005. I had my second stroke 10 weeks later. Thankfully, my son has not shown any CADASIL symptoms.

We CADASILians need a cure. We need a treatment. We need research. We need awareness.

Life with CADASIL is a hard, painful and sometimes lonely battle. I struggle every day with headaches, some of them excruciating. I have dealt with them since I was nine. The hardest thing is moving on with my daily activity. Being a person who had a great memory at one time, I now find myself losing items on a daily basis. Notebooks, memory pads, and sticky notes help for now with my memory issues.

I maintain a full time job in between several doctor's visits each month. I have to inform every person I come in contact with about my rare disease. I seem to drift from family and friends because of the somewhat hardships I have to go through. I live my life. But in the back of my mind I know I have already had two strokes before age 21, and my memory is fading—so it's only a matter of time before it gets worse.

My first experiences with persistent headaches were in high school. In my twenties and thirties I rode the joyous ups and complex downs of being married and raising a young son, while working many hours in a hospital office and taking college classes toward becoming a teacher. I clearly recall battles with depression, anxiety, mood swings, and fatigue, but I assumed those went along with my hectic life.

Near the end of October 2008, I blacked out while attempting to get ready for work. Being diagnosed with CADASIL nearly a year later, a month before my 50th birthday, was devastating. How could I have a rare genetic disease few people know exists? At the same time, my diagnosis explained many of my symptoms and answered a lot of questions.

My diagnosis renewed my faith in God. I work at maintaining a positive attitude and keeping myself as healthy as I can even while I realize this disease is progressing in me. I have hope for a cure for CADASIL—if not in my lifetime, then in the lifetime of the next generation.

I never had headaches or migraines growing up, so when I started getting them when I turned 40 years old, I thought that was strange. I started seeing a neurologist and had an MRI. The neurologist told me I might have Multiple Sclerosis but he wasn't sure. One day at my job while just standing and talking to a co-worker, it felt like a sledgehammer hit me in the back of the head. I was escorted to my desk to sit down—I could only stare. I could not talk or move.

A neurologist came to my room and sat down to tell me he thought I have something called CADASIL. As the doctor was explaining all this, I looked over at my mom and she had tears in her eyes. The blood test and skin biopsy both came back positive. I got very depressed and felt a wave of doom come over me.

Now, over two years after my diagnosis, I still get bouts of major depression, but I'm finding that I have to live my life to the fullest no matter what. I meet more and more people online who have CADASIL, or who know someone who has it. There has to be even more people out there who have CADASIL and just don't know it yet because their doctors haven't heard of it. My goal is to get the word out in any way possible. KNOWLEDGE IS POWER!!