I am trying to find a specialist in the United States that is fairly close to Missouri. I had a stroke from CADASIL November of 2020 two days after having my daughter. I have been seeing a neurologist ever since but I am continuing to have migraines that last for days and sometimes weeks without any relief. I get extreme brain fog to he point where I feel almost numb to everything around me. It’s like my brain just cannot keep up with me. This may be normal but my neurologist was dead set on it being postpartum depression at first and then later decided to give me some anti-anxiety medications that can also help migraines. I don’t feel depressed or anxious (never felt that way except for when I was trying to figure out when I could get home to my newborn.) I think it’s time I look for someone who know what they’re doing but don’t know where to look. Any suggestions for specialists that are well liked?
My wife didn’t know her father or his family. We thought she had MS but after finding out her dads side has CADISIL she had further testing done. She was diagnosed a few months ago. She’s 38 and I’m not sure how to help other than being supportive. She has migraines frequently and a tremor in her hand. I’m scared for the future. We have a six and two year old. It’s strange because she seems fine now besides migraines. There isn’t much information about this sickness. Just looking for some people going through the same thing.
My mother and grandmother both have been diagnosed with Cadasil (Grandmother died of stroke after catastrophic memory loss and mother has had several strokes and is currently experiencing memory loss). I have both the Ancestry and 23&Me genetic test raw data for myself available and have run it through Promethease. When I search Notch3 I only see two results which are rs1043996(T;T) and rs78501403(C;C). I not essetnially nothing about genetics. Does this tell me anything at all? Will either of those genetic test even be able to tell me something about my susceptibility to Cadasil? What should I be looking for?
Any help at all is so very much appreciated.
DOI
https://doi.org/10.1007/s13760-017-0859-7
Link:
https://link.springer.com/article/10.1007%2Fs13760-017-0859-7
Forgive me, not sure how to interpret this report of the Notch3 gene:
- rs1044009(T;T)
- rs1043994(G;G)
- rs28937321(G;G)
- rs28933698(T;T)
- rs3815188(G;G)
As title says, i am the proud owner of this CADASIL condition
https://en.wikipedia.org/wiki/CADASIL
"The underlying pathology of CADASIL is progressive degeneration of the smooth muscle cells in blood vessels. autosomal dominant mutations in the Notch 3 gene (on the short arm of chromosome 19) cause an abnormal accumulation of Notch 3 at the cytoplasmic membrane of vascular smooth muscle cells both in cerebral and extracerebral vessels,[5] seen as granular osmiophilic deposits on electron microscopy.[6] Leukoencephalopathy follows."
I have read that Noopept has been successfully used in recovering actions after strokes or even general brain damage. But does it also work as preventive act?
From what i have found it causes angiogenesis which i don't really know if it's a positive thing; wouldn't it cause an higher density of blood vessels to be a liability?
I take fish oil, astaxantine, vitamin d, vitamin k and b12 as supplements and Lamictal 200 mg. Anything more you could suggest me for my situation?
Due to treatment resistent depression/anhedonia/amotivation i make use of LSD analogues which help greatly for some day after administration. Is my LSD treatment going to interact with my CADASIL? I know it can be vasoconstrictive which is not really something i feel, but i don't doubt it could be present. For it i take 99% chocolate which could make my trip better due to theobromine being vasodilatant.
If things don't get better and some of the things i want to try would come to fail me, i was thinking to consider phenidates. It feels like a big nono, despite them being safer than amphetamines. Anyone could tell me something about this?
Thanks in advance for taking time to read me and replying me, and i wish you all to have a nice day.
- Tomatinos
Cerebral autosomal dominant arteriopathy with sub cortical infarcts and leukoencephalopathy (CADASIL) is a rare autosomal dominant genetic disease. A35 year old women presented with progressive loss of memory left sided weakness and hemiplegic and non insulin dependent diabetes mellitus with characteristic MRI findings is reported due to its rarity.
To know more information
To know more journals
I know this is a hard question but you know what it's like with the limited knowledge we have about the disease. What has been your experience with the cause of death?
This was back in 2004 in Oxford Journals, "At onset of the cause of death, 78% of the subjects were completely dependent. Sixty-three per cent were confined to bed. Pneumonia was the most frequent cause of death (38%), followed by sudden unexpected death (26%) and asphyxia (12%)."
My dad has bounced back from some serious episodes these last 18 years that after about 12 days in the hospital he's back to normal. This current time we're 3 days in of some serious headaches and loss of memory and speech.
Right now in various places around the world, there IS research underway that I have no doubt will help CADASIL patients (like me)! CADASIL Association's friend Dr. Joseph Arboleda is working with CADASIL-afflicted mice at Harvard Medical. Students who work with him are part of his "Team Notch." The CADASIL Association recently awarded $4000 to a student of Joe's to work closely with him during the summer of 2014. We expect to hear of his progress in the fall of 2014.
The ULF (United Leukodystrophy Foundation) recently awarded $25,000 to Dr. Dabertrand of University of Vermont Medical School to conduct CADASIL research. His findings are due to be presented in 2015.
There are CADASIL researchers in other countries as well, working right now. PLUS, there is research progress for Notch 3 diseases in general, where breakthroughs can only help CADASILians. (CADASIL is on the 19th chromosome and the Notch 3 gene.)
Never give up hope. I am confident a cure IS within our reach. That is how I choose to live my life with CADASIL. If not for my benefit, at least for the next generation.
I am:
- 25
- male
- 185 cm or 6'1''
- 84 kg or 185 lbs
- italian/iranian
- currently on 175 mg a day of Lamotrigine, 2 ml 5% minoxidil, rhodiola rosea 200x2/die, 10000 U.I. Vit D3, 200 mcg K2 MK-7, 500 mg magnesium citrate, 100 mg zinc sulphate, 3 fish oil caps (around 660 DHA and more EPA), Biotin, 1000 mcg Methylcobolamine, 500 mg Methylfolate.
- I am tested positive for CADASIL and recently i discovered to being positive for the heterozygous mutation of the MTHFR C667T
Issue: Been depressed since i can remember, low energy, low motivation, problems dealing with my emotions, fear of abandonment, autistic fantasies All which had me diagnosed as borderline cluster B, a diagnosis that was then changed into nothing later on (?) A little thread i made back in the days may give you a bigger picture https://www.reddit.com/r/StackAdvice/comments/7koyif/ontogenic_wreckage/
Questions: It's hard to move forward. But i am trying really hard. Nose twitching though it is, sporadic use of psychedelic drugs have helped me immensely -- and could go as far as saying saved my life if we were to speculate -- and those may not be the only things that could help me build momentum with the little energies i have in me. I have interest for other drugs while having responsible use in mind. Similarly, supplements and the so called "nootropics". But, now that i have found out about these mutations i want to learn, efficiently, how to spot on things that will simple create too many collaterals to benefit me in any way.
How can i learn how to tell when something is bad for my organism or not?
I don't want to rely solely on MTHFR sources that tell me "this food is bad, this is good" or "chug down this vit b-complex". I want to learn the mechanism myself and figure it out on my own. And, so far, i am doing that, only using wikipedia.
Do you guys have any suggestions for me, for my question in understanding my organism better and build myself stronger through food, supplements and drugs?
Thanks for reading, sorry if it was overly loquacious.
- Tomatinos
I'm sorry, I'm not at all knowledgeable about genetics. It would be very helpful if someone could explain this result to me:
rs3815188(A;A) Frequency: 1.8% References:4
Going to the page http://www.snpedia.com/index.php/Rs3815188 I see there are 4 studies, some linking rs3815188 with CADASIL but I'm not sure if the studies are related to my genotype.
Can someone please help? Do I have a CADASIL mutation? What would be the "normal" value to have?
1998 we found out he had CADASIL. Several strokes with four big ones losing all ability to speak and and remember his own name. But, after a week or so in the hospital he bounces back.
It's so crazy because he is so "normal". He is a dj for local events, retired teacher and you would never know anything like this could happen to him.
I'm here in the hospital right now and it's refreshing to have a Doctor know about the disease. He went on to say (it may have been sold) Athena has a patent on 8 of the 23 mutations that cause CADASIL. That in the DNA world people come up with new strands and it's like an open forum but then private companies either buy or patent their own.
It's so hard to see a dad who does so much for his family turn off like a light switch and not know anything.
I don't want to step on anybody's toes here, but the amount of non-dad jokes here in this subreddit really annoys me. First of all, dad jokes CAN be NSFW, it clearly says so in the sub rules. Secondly, it doesn't automatically make it a dad joke if it's from a conversation between you and your child. Most importantly, the jokes that your CHILDREN tell YOU are not dad jokes. The point of a dad joke is that it's so cheesy only a dad who's trying to be funny would make such a joke. That's it. They are stupid plays on words, lame puns and so on. There has to be a clever pun or wordplay for it to be considered a dad joke.
Again, to all the fellow dads, I apologise if I'm sounding too harsh. But I just needed to get it off my chest.
Do your worst!
I'm surprised it hasn't decade.
For context I'm a Refuse Driver (Garbage man) & today I was on food waste. After I'd tipped I was checking the wagon for any defects when I spotted a lone pea balanced on the lifts.
I said "hey look, an escaPEA"
No one near me but it didn't half make me laugh for a good hour or so!
Edit: I can't believe how much this has blown up. Thank you everyone I've had a blast reading through the replies 😂
It really does, I swear!
They’re on standbi
Pilot on me!!
Nothing, he was gladiator.
Dad jokes are supposed to be jokes you can tell a kid and they will understand it and find it funny.
This sub is mostly just NSFW puns now.
If it needs a NSFW tag it's not a dad joke. There should just be a NSFW puns subreddit for that.
Edit* I'm not replying any longer and turning off notifications but to all those that say "no one cares", there sure are a lot of you arguing about it. Maybe I'm wrong but you people don't need to be rude about it. If you really don't care, don't comment.
When I got home, they were still there.
What did 0 say to 8 ?
" Nice Belt "
So What did 3 say to 8 ?
" Hey, you two stop making out "
I won't be doing that today!
[Removed]
This morning, my 4 year old daughter.
Daughter: I'm hungry
Me: nerves building, smile widening
Me: Hi hungry, I'm dad.
She had no idea what was going on but I finally did it.
Thank you all for listening.
You take away their little brooms
Where ever you left it 🤷♀️🤭
There hasn't been a post all year!
It was about a weak back.
