Cadasil
 

Do we have much info or anything new on that? I saw one thread with it. It does seem to be rare. I have a friend whos husband is getting tested for it :(. I wanted to make sure this was on the "topic" list.

They are going to need all the support they can get, and this place has helped me out quite a bit, so I'm not worried about that part. We need to give 'em a good group hug if I get them here.:grouphug:

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.

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.

If you don't mind me asking, what was your first symptom? How did they know to look for this? and how is it diagnosed?

FIRST SYMPTOMS WERE TYPICAL PRESENTING SYMPTOMS FOR MS: NUMBNESS AND TINGLING on one side of my body, vision problems, balance problems. etc. When my mother died at 94, the Brain Bank at the U of Maryland did an autopsy looking for the fibers characteristic of Alexander disease;instead, their electron microscope picked up the evidence for Cadasil...my brother's previous dna cadasil test showed some variant genes that the metabolic scientists at OHSU (Oregon Health and Science University) in Portland thought could cause cadasil; so they diagnosed it and the genetics lab at the Univ of Washington reviewed everything and agreed; then NIH confirmed cadasil after examining MRIs and lab results, both for my brother and myself independantly. We had been looking for the cause of our problems for three or fours years and had eliminated MS and most of the leukodystrophies when the Dx was made.
My last neurologist was the only one to question the cadasil Dx since none of my three siblings who also have cadasils, nor I, have signs of strokes nor migraines, which are the main symptoms of the disease. My current neurologist accepts the Dx, however. As did my previous neurologists In Wa.

I think that the only way to Dx the disease, for sure, is through an autopsy or a dna, genetics test.

In short, getting a Dx is often a very long and arduous process, but it started, for me, after MS was ruled out, at the OHSU MS Clinic and an adult onset of an unknown leukodystrophy was strongly suspected. But the first real confirmation came from my mother's autopsy which ironically was arranged, not by an m.d., but by Dr. Albee Messing phd, a research veterinarian at the Univ of Wisc, and one of the leading experts on Alexander disease.

So what you're saying is both exercise and asprine are bad (contradicting) for cadasil patients? I'm not sure I have it, but am currently fighting with my insurance company in order to be tested for it. I've had multiple strokes in my eyes (not my brain). Lost a lot of vision that I will never get back. I've also had 2 seizures. Have headaches, but not like a typical headache. Numbness in one leg (just the upper portion). And white matter in my brain according to my past MRIs. This all started at age 24 for me. I'm now 44. Have seen a neuroopthamologist at Johns Hopkins and he's the one that wants me tested.

Can I ask where anyone else was tested? And if, by chance, you know the CPT number that was used in order to be tested? That's part of my problem - none of the doctors' offices can help me come up with that number and therefore I cannot get a referral. It's quite frustrating not knowing what's going on, what my problem is (could be cadasil, but even if it's not, I will most likely have more strokes throughout the rest of my life and therefore dimensia to follow).

It is my understanding that Athena Labs is the only lab that does the test for CADASIL try 1 800 394-4493 they can give you the CPT # Also if you try their website you might be able to get the CPT#.

scotland
 

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!!

Cadasil
 

Hi everyone, I'm not sure how much help I can be but I will do my best. I was diagnosed with CADASIL 4 years ago through genetic blood testing as my MRI was first looking like MS. First thing I did was dramatically change my diet. I was tested for any and all food sensitivities and allergies and eliminated them. This helped with the migraines and works even better when I increased the fruits and vegis ALOT! I have had intermittent "episodes" where my right arm will curl up and become fairly rigid and I lose my ability to speak. After a few hrs it subsides and comes back to normal. The reason I have time to write in here now is that I just got to spend a couple days in the hospital with new symptoms, weird head feelings, loss of speech severe fatigue and tremors. I've been put on anti seizure meds but it seems to only be helping the tremors so far. I want to sleep ALOT! My daughter keeps trying to find out info on this but as everyone else has said, no one seems to know anything about it. I see my neurologist at OHSU in a couple weeks so we will see if there is anything else new. I believe in muscle energy testing aka applied kinesiology, so am taking a few natural supplements that my body tested well for and I'm hoping will relieve these new episodes soon! I wish all of you peace and health!