Thank you for telling us you're story.....my brother has cadasil. However his was diagnosed as a communication disorder at age 5. He was born in 1983. Over the years he has gotten worse and worse, in 2020 something happened to him, and he was unable to talk properly but could still be understood. We tried to get him to see a Dr but he refused, our mother died in 2022, around that time, he became impossible to understand, and was unable to remember his pin code for his bank card.. he also couldn't write. Then about a year later April 2023 he fell, and couldn't get back up. We took him to the ER to eventually find he has had multiple strokes, and at the age of 39 his brain looked like a 70 + year olds brain.. also a lot of white matter was dead. He spent 2 months in hospital learning to walk.. then was transferred into a care home where he still lives now. He doesn't understand how bad his condition and memory is. He tries to mask it. And gets angry when he can't leave the care home to get his own place. It's heart breaking to see him go through this.
@XKoriX214, I’m sorry to hear about your brother. Do you know if he inherited CADASIL from his mother or father? Have his issues health issues all been attributed to CADASIL or does he have another disease as well? Having multiple strokes will certainly account for his cognitive issues, his deteriorating speech and mood variability. As his brother, it must be troubling and frustrating for you that he is going through all of this. Look after yourself and take care and, I hope that your brother is able to settle well into his new living circumstance.
@meandcadasil7093 we aren't sure. My mother died at the age of 61 in 2021 of sepsis.. her mind was never great, she always did and said some weird things, and her memory was terrible. However, my dad is similar. His memory has always been bad too. He is 70 now, and he's starting to develop alzhimers. There is also a certin type of autism in the family that was called Aspergers syndrome, so we aren't sure if it's come from my mothers or fathers side... or maybe the joining their DNA (I'm unsure how genetics work) I'm the oldest. My memory has always been really bad, also depression, and suffered from migraines since I was 12. 2nd oldest is my brother in the care home who've I've already spoke about.. then my sister, she's got aspergers syndrome.. then our younger brother. He was born with a cleft lip... all of us have the same really bad memory.
@@XKoriX214, CADASIL has an autosomal dominance pattern of inheritance. That means, only one copy of the gene mutation need be passed on from that parent with the disease. Does your brother have a confirmed CADASIL diagnosis, via a Notch3 blood test. There are many other genes that can cause or contribute to your brother’s symptoms. They all cause some type of cerebral small vessel disease and most show some level of white matter damage: see Table 1 in this paper: www.ahajournals.org/doi/10.1161/STR.0000000000000444
Hi Patrick, your blog has been an amazing eye opener for me. Thank you My name is Peggy, 71 years old...I was diagnosed 15 years ago with CADASIL which caused a mild stroke. My Neurologist booked me into hospital... I live in Cape Town, South Africa. However, the first experience of this condition later was absolute loss of appetite, depression, anxiety and apathy. This condition lasted for several months. I recovered and lived a normal life untill my more recent experiences....April 2023 and presently since beginning of February this year. Please could you advise on the correct medication going forward . I am a Christian and pray constantly for answers. Praying for you and those suffering with this challenging condition. Thank you so much for your informative blogs..
@peggywhite1395, thank you for your kind comment about my blog and I’m sorry to hear about your CADASIL experiences. There isn’t really a list of the “correct” medications to be on for those of us with CADASIL but it is best to avoid - unless absolutely necessary for other health reasons - anticholinergic medications, as these can increase the risk of mild cognitive impairment or even dementia (but this is a topic best discussed with your neurologist or general practitioner). You may know there is no specific pharmaceutical (drug) treatment for CADASIL, only treatment for some of the symptoms - e.g., migraine, depression, anxiety - or risk factors that could increase stroke risk, such as high cholesterol, high blood pressure or having diabetes. This FAQ link from the CADASIL Clinic of the Cambridge Stroke unit is very useful in providing advice regarding usefulness or otherwise of medications often used in CADASIL patients: www.cambridgestroke.com/faqs.php You might also find this link from my website (Support Groups/Resources) helpful as well: www.thisiscadasil.org/facebook-groups - includes a link to CADASIL Support Group South Africa. Wishing you the best Peggy. 😊
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.
@user-zs8mg9vl5k, in Australia compensation is determined by disability/disabilities and how they affect one’s ability to live a “normal” life, e.g., walking impairment, ability to prepare meals, level of fatigue, cognitive issues, difficulties in showering, bathing, or toileting, permanent weakness in one or more limbs, etc. In other words, a diagnosis of CADASIL (or any other neurodegenerative disease that could cause disabilities in the future) in itself, does not mean a person is entitled to a disability pension or a disability insurance payout. One has to provide medical evidence to prove current and permanent disabilities and how they affect your life. Possible future disabilities are not a consideration, as they may never happen.
@ramonajurj2143, sorry to hear about your husband. Whilst there is treatment for many of the symptoms, currently there is no treatment for the disease itself nor is there a cure. I have another video called CADASIL - No Cure. No Treatment? in which I discuss some of the symptomatic treatments that are available. See here: ru-vid.com/video/%D0%B2%D0%B8%D0%B4%D0%B5%D0%BE-3vOMMAL-NQU.htmlsi=vJ4M61UpuEzZcsjc I think it is also helpful to look at the Cambridge CADASIL website - www.cambridgestroke.com/cadasil.php Take care.
@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
hey man i have cadasil myself as well and i have the same exact symptoms it started when i turned 21 now im 33 been going through this for the past 12 years so far. I really hope you're doing well and please take care of yourself and lets just hope they find a cure for us one day.
@ttvKHAN36 sorry to hear you have CADASIL - I hope it doesn’t affect you too much. I’m doing okay, despite fatigue and chronic pain increasing somewhat in the last few weeks. You take care as well. 👍
@amandasims3711, sorry to hear about your challenges but glad to know they are not defeating you. Even though it’s not as rare as it was once considered, there are still a great many neurologists who still do not know it exists. Thank you for your comments and I wish you well. Regards, Patrick.
Hello, My name is Amanda. I am 53yrs old. I was Diagnosed when i was 38 by Drs at Stanford. At one point t actually had 6 Drs From Around the World All Discussing what was wrong with me ..Cadasil is so rare half of them never heard of it. Its been a challenge I Am very forgetful, i have balance issues, cognitive issues i have a weird walk, i tend to drag my right foot. its gotten a lot better with physical therapy. I have major issues since my last stroke, i refuse to let it get me down. im gonna fight to the end. who knows maybe they will find a cure. its gotten better at one point i was afraid to go for a walk because i would get lost, i still do just not as much. ive learned to not go very far and always look for landmarks. even if its a tree in your front yard you have seen a million times. The headaches are not as frequent. yes Cadasil is definately a challenge. Try to stay positive dont be ashamed its not our fault we didnt ask for this (we are just special) bye for now. Sincerely A.Sims
@amandasims3711, how did I miss your comment before now?! My apologies. I’m sorry to hear about your challenging symptoms but glad to know physical therapy makes a difference. I’m certainly not ashamed by having this disease and I want as many people as possible to know about it (the disease itself and now it can affect people). I don’t mind at all that people know I have it 🙂 Regards, Patrick
Linda, thanks for watching. It is definitely possible for people with CADASIL to have regular TIAs as well. As CADASIL is a cerebral small vessel disease, however, I’d rather use the term mini-stroke rather than TIA, as they are most likely to occur in the extremely narrow lenticulostriate (deep descending) arteries and arterioles of the white matter in the brain. Any occlusion of such arteries, no matter how short the duration, is highly likely to cause some damage to the affected brain tissue. Regards, Patrick.
Hello do you know what can contribute to lacunar stroke? For example: can stress contribute to it? I just found out on my husband’s mri that a right cerebellar chronic lacunar infarct was found. Should I be worried? We will be going to dr. tomorrow to discuss it. I am so worried.
Hi Maria, sorry to hear about your husband’s stroke. Is he having any symptoms? Many lacunar strokes can happen without showing any apparent symptoms (silent strokes) - I have had several of these over about 25 years. As I know nothing about your husband’s circumstances, I’ll just comment about lacunar strokes generally. Lacunar stroke is not uncommon in elderly people or others who have a a long-standing history of undiagnosed and untreated hypertension (chronic high blood pressure). Chronic HBP causes damage to blood vessels, especially the small arteries in the brain and heart. Such people often have (but not always) other health issues that contribute as well. So, chronic stress could contribute, in the sense that it could well maintain and exacerbate ongoing hypertension. Stress management is very important. A single lacunar stroke is highly unlikely to cause death, and the possibility of any physical and cognitive impairments depends very much on which part of the brain was affected by the stroke. Wishing you well.
rivit90, thanks for your kind comments. Glad my video was able to provide some insights for you. All the best for your ongoing recovery. Wishing you well.
Very interesting and informative video, thanks so much for sharing. I had a lacunar stroke myself in january 2020, mine was the same size as yours 15-20mm , My scan showed a black hole/void in the right side of my brain affecting the left side. I too wasnt aware of it happening , i just went to bed feeling a bit under the weather and woke up feeling very dizzy , My wife rang the doctors explaining what was happening and the doctor sent a ambulance within minutes. Within 30 minutes of me arriving at the hospital i was unable to walk or lift my arm. Not much was explained to me about the cause of the stroke or the biology of the small vessels affected. Your video has explained everything to me clearly and its very much appreciated. 3 years on and it has been a tough ride, but im very optimistic for the future especially since making lifestyle changes , I still suffer with mental issues (severe deppresion/anxiety) slight cognitive impairment and extreme fatigue. modern medicines are a real life saver and god send. thanks again , i wish you a long healthy happy life, take care
rivit90, thanks for your comment. Sorry to hear about your stroke experience but good to know this video gave you a better understanding of what happened to you. Yes, dealing with the consequences is a lifelong journey and I wish you the best in the future.
@db9071 thanks for your comment. My Mum had it (and probably her Mum too) and I have a sister with it as well. I’m kicking along okay - hope you are too. 👍
Nic’s Uploads, glad to hear they’ve been helpful. Appreciate you taking the time to comment. Hopefully, your friend’s CADASIL is a mild version. And I’m sure that she is grateful that you are educating yourself about this disease. Good on you. 🙂
Thank you for your video. I, also have CADASIL. I have many questions and am looking for a specialist for CADASIL in America. I am exhausted and have got to the point that I would rather lay down or sleep all the time. Is that normal?
Shannon, thanks for your comment. Yes, neuro-fatigue is not uncommon in some variants of CADASIL - I also have strong fatigue. In terms of looking for a CADASIL expert (or at least someone with more than a basic understanding), the Cure CADASIL website has a doctor directory - cure CADASIL.org/CADASIL-doctor-dir/ Also, many Americans are members of the Facebook group CADASIL Support and may be able to recommend a specialist who practices in or near your area. Wishing you well Shannon. 🙂
You are so nice. Thank you for your help. Here where I live, not many doctors have even heard of CADASIL. They ask me for information. Lol Peace and love to you and yours!
sojournerhouse, thanks for your comment. Sorry to hear you have white matter disease. Do you know the cause? What treatment has been suggested for you? Wishing you well. Regards, Patrick.
Thank you for explaining white and grey matter. I was just diagnosed with mild white matter disease. I have been having balance, walking, focusing issues. I also have ear pain, eye and head pain.
