Hi there,
Im new to the site. Found this post while googling cadasil info.
My family is affected by it. We live in Scotland. I noticed you said Scotland may be researching it- this isnt what we've experienced. My gran developed symptoms at 47 and after having other things ruled out, when she was 55 we began to believe it was cadasil but fought for years to get her tested and diagnosed. Once it was confirmed they tested her four daughters. ( 3 negatives - thank god! And the other doesnt want to know her results.)
We found that even after she was diagnosed, the doctors didnt know who to send her to or what to do with her. she was on and off of asprin and warfarin. With my gran the dementia kicked in pretty early and, probably due to her not being very fit to begin with, she lost mobility quickly too. She passed away 3 years ago aged 65.
Through family research we've now realised that of my grans 7 siblings, at least 3 others likely died from cadasil. (she was the youngest sister) my gran always told us her father died of war wounds when she was 2, but we've now discovered he died from a stroke- this must be where she got the gene.
One of my mums cousins recently had a funny turn while jogging and mentioned cadasil to the doctor -apparently our family name- Gibson is the main name of cadasil patients in Scotland. The cousin has been tested and has cadasil. He is 41.
Its quite scary to me that the doctors dont seem to know a thing about it! My grans various doctors (as she seen alot of them at various hospitals/hospices) were having to look the disease up there and then. I understand its not something they come across everyday- obviously with it affecting so much of my family im quite emersed in it- but we've struggled to find any doctor looking to research it further.
Not sure if what ive said will actually be helpful to anyone- think this became more of a rant towards the end sorry!!
Quote:
Originally Posted by michael178
It is estimated that only 400 families worldwide are affected by cadasil, there are a couple of people here that have it, myself included, and I would welcome contacting someone else. Do you know where they are getting tested, which lab is doing the testing? And who are they currently seeing? Thanks. As for new information, I do not know of any...other than it is a genetic problem causing microscopically small blood vessels to fail deep inside the brain, the resulting mine stroke cause extensive damages i.e. a lot of white matter damages. My brother and sister went to the Mayo Clinic and they were not much help. I lived in OR and WA and never saw anyone who had treated cadasil patients. But, of course, there is no treatment anyway...which sounds a lot worse than it is.
To me, the no treatment relieves me of a lot of false hopes, and gives me a lot fewer things to worry about. I just try to remain as healthy as I can. I exercise which helps me the most, and take stuff for the dementia cadasil causes. I have a neurologist who helps with my neuro symptoms, but I rely mostly on my long time personal physician, who is a good internal medicine physician.
In short I treat the symptoms, and forget about cures. Cadasil is an orphan disease...too few people have it, so there is no or little research on it, especially in the US; the UK, I think, is doing the most work on it, especially in Scotland, but there is probably a lot happening in India and other foreign places too.
I do not mean to sound pessimistic, but I am almost at my tenth anniversary with cadasil, and reality has a way of slowly making one a realist.
Good luck, and I mean that in the best possible way.
I am not a fan of foundations, but there is one, in Texas, for cadasil called "Together We Have Hope," a sentimental expression in the face of daunting and fatal odds, but they are certainly well intended. The foundation is mainly, at least in my experience, for partners and support networks for those who actually have the disease. And, of course, they raise $$$$, like most foundations for a variety of Cadasil causes.
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