Summary: CADASIL is a type of stroke disorder that can cause young onset dementia. Two web sites have been developed by women whose families are affected by the disease.
Billie Duncan-Smith’s husband Steve’s first symptom came when he was 38. He woke up with an excruciating headache, and started vomiting because the pain was so bad. Over the next few years, he would suffer many such migraines, some lasting for several weeks. An MRI of his brain showed a high number of white matter lesions, but Steve’s doctors weren’t sure what was causing his headaches.
Billie and Steve in 2004
While Steve suffered, Billie searched the internet and contacted medical experts all over the world. She sent his records and test results to those who offered to help. Finally, someone at the U.S. National Institutes of Health called her to suggest Steve might have CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy), a type of stroke disorder.
Then a professor in France asked Billie to send Steve’s father’s medical records (he had died of a stroke) and to find someone to do the skin biopsy needed for diagnosis. Billie arranged all this. Three years after Steve’s first migraine, the professor in France, along with a doctor in the Netherlands, confirmed that Steve had CADASIL.
Four years after he was diagnosed, Steve had his first TIA (transient ischemic attack, a stroke lasting a short time). He suffered many more TIAs, and developed short term memory loss, double vision and problems with walking. He had to stop working.
Billie, who continues to research CADASIL, reports that Steve is now doing relatively well. “Steve is functionally better than he was in previous years,” she says, “due to all the thirteen daily prevention medicines he is on. He does not live in pain. He still gets very tired, has short-term memory loss, sometimes has a short temper, and is easily fatigued.”
Why was it so difficult to get a diagnosis for Steve? “CADASIL is a rare disorder,” says Dr. Hugues Chabriat, Professor of Neurology at the University Paris VII in France and a colleague of the professor who originally made the diagnosis. “It is also probably underdiagnosed. The neurologists, and particularly those involved in stroke neurology, should be aware of this disorder. It is more difficult for a general practitioner because of the rarity of CADASIL.”
Could someone diagnosed with possible or probable Alzheimer’s really have CADASIL? It’s not likely, according to Dr. Chabriat. “I do not think that a substantial portion of people diagnosed with Alzheimer’s disease really have CADASIL,” he says, “because Alzheimer’s disease has a frequency much higher than that of CADASIL. In addition, CADASIL appears usually decades before the occurrence of Alzheimer’s disease, most frequently diagnosed after 65 years [of age].”
Unlike Billie and Steve, Mary Anne Moisan and her husband Rick knew for years that Rick had inherited the genetic variation that causes CADASIL from his mother (the disease is almost always inherited). He had had some episodes where he “blacked out” when he was young. But other than migraines with auras, he had not had symptoms for years when he suddenly developed severe dementia at age 52.
During a short period of what Mary Anne remembers was “significant and rapid decline,” Rick was hospitalized multiple times. He became uncharacteristically combative and aggressive, and when he was not in the hospital, he needed home care services. He spent a long time in a hospital psychiatric unit. Mary Anne tried to stay on top of things – overseeing care for Rick, as well as their children who then were seven and ten - while working full time. When she felt Rick’s condition threatened the children, she finally placed him in an assisted living facility, then a dementia care unit of a nursing home.
“What eventually happened,” Mary Anne says, “is that Rick had a stroke that affected his brain stem, leaving him unable to move his body at all. He could not voluntarily eat or swallow, so I made the painful decision to allow him to die by not intervening medically.”
Scientists are still working to understand CADASIL and to find disease-modifying treatments. “Today, we do not have therapy with proven efficacy for slowing the progression of CADASIL,” Dr. Chabriat says. “Additional basic research and analysis of follow-up data are needed to better understand the exact mechanisms underlying the vascular wall alterations and factors influencing the progression of the disorder.”
In the meantime, both Billie and Mary Anne spend their spare time trying to help other families in similar situations. Through her web site CADASIL Together We Have Hope, Billie promotes awareness of the disease, and works to educate and support both doctors and patients.
While Billie’s site emphasizes information she has learned about the latest CADASIL research, Mary Anne’s new site, YoungDementia, is more focused on the emotional needs of families dealing with all kinds of young onset dementia. “What I hope to accomplish with the YoungDementia.org web site is first to build awareness of the unique needs of younger-onset dementia,” she says. “Additionally, by collecting personal stories and experiences from individuals, family members, caregivers and professions, we hope to identify multiple solutions to the unique needs of younger people with dementia.”
Her work is driven by her knowledge that her whole family suffered. “Rick undoubtedly suffered more than myself or our children,” she says. “I cannot even imagine or comprehend what his experiences were like. And the thought that my ‘caregiver’ decisions contributed to Rick's confusion, anxiety, and most likely real pain as he was dying, continues to haunt me. I have a hard time identifying which decisions I made were helpful for him, as the painful ones were so huge, and seem to grow larger now that I have time to reflect.”
Billie and Mary Anne have shown that individuals and families really can make a difference.
Note: in addition to Billie’s and Mary Anne’s sites, you may want to visit the following sites:
U.S. National Institute of Neurological Disorders and Stroke CADASIL page
CADASIL France (in French)
Information from the University of Washington on genetic testing for CADASIL
CADASIL Trust (set up by a person with CADASIL).