The symptoms in CADASIL can vary considerably from one person to the next, even between people with exactly the same mutation. These are my main symptoms.
@0zero0zero glad to know you found my video to be helpful. Hope your relative screens negative for CADASIL. Is there family history of having this disease?
Has your cadasil😮 diagnosis led to any treatment that has been useful to you? My sister has a diagnosis but she has the only treatments that I also have without a diagnosis
Thanks for sharing your story. I was diagnosed at 39 yrs. old after collapsing into my 1st seizure, respiratory arrest, & a 1 wk. coma. Diagnosed at Cleveland Clinic Genetically. Given 2-10 days to live. I've lost my career, beautiful suburban home, SUV, ability to drive. My Tonic/Clonic, Partial & Absence seizures are intractable; tried multiple anti-seizure drugs; destroyed my life & sadly my younger brother began suffering seizures at 19 yrs. old - we can't find the help we need. Any ideas. Please help.
@daphnekretz4599, I am sorry to hear about your diagnosis, symptoms and their effect on your life. I too no longer drive (it’s been nearly three years) and I had to stop working almost eight years ago. Daphne, what kind of help do you need? As you may know, there is no treatment for CADASIL itself but there is for some of the symptoms. There is very little information or research about epilepsy in CADASIL, although it is believed to be an uncommon feature of the disease. The cause of CADASIL seizures is not known but most cases have been observed to happen following a stroke in some CADASIL patients. And it’s possible that these seizures may only occur in a quite limited range of people with particular Notch3 mutations (do you know which Notch3 variant you have ?). Are you under the care of a medical specialist who has an understanding of CADASIL? Do you have known cardiovascular risk factors - hypertension; high cholesterol levels; do you smoke; what were and are your current exercise/physical activity levels; are you well hydrated; do you actively use stress management techniques? Are you part of any CADASIL support groups? Some of these groups may have members who have also had seizures and can share their experiences, as well as perhaps being able to share tips or doctor recommendations. You can find such options in the Support Group/Resources section of my website: thisiscadasil.org How long has it been since that first seizure? And has a cardiologist checked to see if you have a hole in the heart (atrial septal defect). Have you heard about the CADASIL Consortium study - cadasil-consortium.org In the meantime, take care Daphne.
