cadasil??? - Stroke Message Board

Prode · 10-18-2004, 10:17 PM

Please help, i am a 39 year old female with 2 other sisters , one 32 and one 42, we were diagnosed with cadasil 2 years ago, but the doctors dont seem sure about the diagnosis, we hae been tested for everything m/s, lupus, lyme, encephalitis, fabrys, etc.... but the stroke specialist says that we have a variant of cadasil? has anyone ever been diagnosed with this? the doctors said since it is a varaint, no one can counsel us, or tell us about it because it will effect us in a differnt way, iwe have had no one managing in our care and we have all been getting worse fast, we have 7 children amoungst us and are afraid they too may get this, we allhave migraines, tia's, multiple brain lessions, and neuro problems, also we allhave heart problems now also,.
has anyone reading this ever been told they have a variant, or does anyone have heart problems that has cadasil, what can we do to feel better or get help? really desperate for some hope, looking forward to hearing from you. thank you for reading.

farmwife · 10-19-2004, 03:34 PM

Prode,
I am not sure what the doctors are referring to as a variant. My husband has been diagnosed with Cadasil and as far as I know, you either have it or you don't. Cadasil is a genetic defect on the Notch 3 gene of Chromosome 19. He suffered a major stroke in June of 2002 and lost use of his left arm and walks with a limp. He has major spasticity and some memory and cognitive problems. This is a slow progressive disease and is a member of the Leukodystrophy diseases. We have 6 children ourselves with the eighth grandchild on the way, so I know of your fears. Have any of you had any genetic testing to confirm Cadasil? Hope to hear from you soon.

Prode · 10-19-2004, 11:38 PM

thank you for getting back to me, yes we ahave been dna tested and was told that we have it in a difference ssequence on the notch 3 so it is a variant of cadasil that has never been report anyone having it. vary rare. im sorry to hear about your story, what are the doctors doing for your husband? how long did it take and what tests were done to make his diagnosis? thank you so much look forward to hearing from you. hope your husband is feeling better today.

Prode · 10-21-2004, 07:37 PM

Thank you so much for your advice, and for asking advice on variant, yes i was seeing a neurologist @ stanford universtiy, also a stroke specialist whom both say its cadasil but a type of cadasil, and they dont know anything about it themselves,. thank you for getting back to me , i hope your husband is feeling good today, and yes they say it is crucail to get into a support group, but no one will do any gentic counselingbecause it is a variant they say. we have been frustrated and hopless for years with no help , but all 3 of us sisters feel terrible 3-4 days a week and gave up research until now, we are trying to find help, and i appreciate everything you tell me. have a great day, look forward to talking to you soon.