VASCERN, the European Reference Network on Rare Multisystemic Vascular Diseases, currently gathers 31 highly specialized multidisciplinary expert teams from 26 Healthcare providers (HCPs) and 7 affiliated partners HCPs coming from 16 EU Member States, and various European Patient Organisations. VASCERN is coordinated by Prof. Guillaume Jondeau, Cardiologist and Coordinator of the Center of Reference for Marfan Syndrome and related disorders, AP-HP Hôpital Bichat, Paris, France.
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i had Supraventricular Tachycardia but got treated by an ablation (electrocardiogram and ekocardiogram before it) , seems it was just of the electric signals as i have been told, even though doctor told me i am tall and strechy, thats why my heart valve may be strechy and i may have faster heartbeat than average even if its treated i am tall for my age, my wingspan is nearly same as my lenght and im quite slim with slim fingers and a long face, but i dont have aorta problems or lens disclocation, just myopia and astigmatism (i got it checked too) i dont have problems with chest formation but a little bit of kyphosis (self diagnosed and may be non-accurate) i got an X-ray before my ablation and i have never been told about such problems i dont have problems with my teeth and have a normal jaw, just a bit high arch palate than normal for last i have strech marks a lot too i scored 7 and i dont know if i should be concerned anyone could help?
are u kidding , please fix your audio
Approximately 40:00 arterial flow, thoracic activity
I loved seeing the help provided to patients through professional genetic diagnostic methods to ensure better care.
Wow, European rare diseases huh ? Well as a none European person, I to share the same genetics.
Thank you for sharing! You're absolutely right, rare diseases affect people all over the world, not just in Europe.
I think the best you can do, its to share information as much as you can and facilitate medical care from experts by any means, especially digital ones, which are the fastest. Many doctors don't know how to manage "rare" diseases, sometimes they don't even know the names
Thank you for your insightful comment! We completely agree. Sharing information and facilitating access to expert medical care is very important.
No-one with Marfan Syndrome should get married, it is a death sentence. Be careful babies, you are stronger than you could ever imagine, look after your hearts and protect them. I know you, I know your suffering and I know why. Self love❤ is all you need and I will love all of you always because you all take on so much, I feel it. I have Marfan syndrome, I am 34 years old and I have overcome my disability and I'm only getting stronger and I believe you all have the power to do the same. Increase your energy, be fearless, be strong. You are loved more than you know. Whatever happens you are protected and you will learn in time how powerful you really are. Understanding duality is essential, we have both light and dark aspects of our subconscious and our thoughts change the world. Be the change you want to see. Be the miracle❤
Thank you, keep the answer to yourself.
KTS Ka Nidan
Is having two mutated copies compatible with life?
У меня KTS правой ноги. Ношу компрессионные чулки и удаляю Вены и сосуды лазерной и склерозирование терапиями.
The woman I’m in love with has HHT. I pray she gets cured from this condition. She’s the most kind and sweet person I’ve met in my life. Hopefully better treatments come out in the future.
Thank you for sharing your personal story. We join you in hoping for more advances in the treatment of HHT. In the meantime, please encourage her to stay connected with her healthcare professionals for the best management of her condition. If you or she has any questions or needs more information about HHT, please visit our website for more resources on HHT. Wishing you both strength and hope.
I'm scared. I don't know how serious vEDS is. I know I'm in pain constantly 😢some days, Certainly some nights, are easier then others. I have spent days awake, afraid I wouldn't walk the next day. Now my chest is in pain constantly and its scary
We're sorry to hear that you're going through such a difficult time and want to express our empathy and support. We encourage you to contact your healthcare provider immediately to discuss your symptoms and concerns. They can provide you with the guidance and support you need to manage your specific situation. Don't hesitate to contact vEDS patient associations and EDS societies who may also be able to support you.
I didn't know I had kts until I was 58 went to a skin Dr. To have a bleeding blister on my left arm removed , he new what it was the minute he came through the door , so I finally new what I had , why one arm was bigger and fatter then the other
Thank you for sharing your journey to diagnosis with KTS. It's great to hear that your doctor recognised it immediately and understanding your condition is an important step towards effective management. Your story is definitely a powerful reminder of the critical role of early diagnosis and we are glad that this video has been insightful. Please feel free to share it with others who may need it.
i have KTS on my both legs. I was 10 years when i found about it and i used to love dancing but doctors had strictly said that i cannot dance and had i had to inject medicine on my extra veins but now after 2 years i am so much better and i have recovered so much now and i like to say to those who just found about their KTS "first of all do worry about it. If you follow what you doctor says you will recover soon and KTS does not have permanent cure but if you follow what your doctor you can overcome it so be strong and follow what your doctor says and take ''.
It's wonderful to hear about your recovery and improvement over the last two years. Thank you for your encouraging words.
@@VASCERNERNRareVascularDiseases You're welcome 🤗 I have suffer a lot because it's is not a normal disease and my friends used to troll me for it and I don't want other to suffer too so don't worry about it just focus on your study or whatever you do just don't listen to other if someone says anything bad about your disorder. Just say I am special because I have many veins. I know it will not be normal for you to live with kts in few months or year, wearing stockings i know it is hard but do not be sad about it just think you're special and keep recovering and Take care of yourself self 😊
I’m 6’4 154 pounds very skinny fat scoliosis with some kyphosis long fingers arms and stick legs which I can’t seem to grow I recently found out about this genetic disorder and I’m just disappointed man I can’t believe it I don’t have the lens detachment issue but I have nearsightedness and some floaters I have very little facial hair too so I guess I don’t need testing it’s pretty much confirmed my joints are always aching I hope as technology gets better stupid diseases like this can go
Definitely same with me. Same height and same symptoms. Just found out about this too. I’ve always been worried why I couldn’t grow my stick legs.
@@The_plug_for_everythingah man I’m sorry bro it’s a bummer but what can we do I genuinely hate my physique long arms legs and torso my legs look so skinny i feel so insecure my back is hunched back and my hairline is receding
Thank you, What do you mean give HHT by injection vs cancer. Didn´t understand that part.
I had this my whole life and now am on my death bed. Worried about literally spontaneously combusting
Hey! You can visit a good doctor
I don’t want my child to have genetic testing because I believe in the future that they won’t be able to gain health insurance or life insurance. Does that mean they can’t gain a diagnosis without the genetic test?
Plz help me
I am about 6’2 or 6’3, I wear a shoe size 13, I have pectus carinatum, I’ve had osgood schlatter’s (knee cartilage overgrowths) as a teenager (which left me limping for years), and my hands/fingers aren’t as incredibly long as the photos- but they meet the criteria. My friends also consider me flexible- I can bend my thumb down to touch my wrist and can contort myself pretty effortlessly… might need to see a doctor for confirmation! thanks for bein a resource!
Might be Ehlers Danlos syndrome too.
i am tall, skinny and have a pneumothorax and thats it really
Absolute ethanol embolization under strict guidelines and by a experienced interventional radiologist , is the best treatment/cure for vascular malformations . Its very disappointing that very few doctors has mastered it. Rather than improving the techniques for ethanol , doctors are just jumping from one sclerosing agents to another like STS , Polidocanol , bleomycin and others and no one is comparing the benefits. Sirolimus is not a cure and it doesn't help every patients. My daughter has taking is for last two years , and it doesn't help her much. She has extensive venous malformation in the right leg. She is going through absolute ethanol embolization , where her doctor is destroying one by one the niduses and she is getting benefited.
Mwanangu ana marfan syndrome ana miaka 12,haoni na valve yake haifungi vizuri
My son was just diagnosed- he has pectum excavatum, severe scoliosis with deformity requiring a spinal fusion, major vision issues, collapsed arches of the feet as well. Luckily his last echo was good. Its hard but we are finally going to get help. I had a double vertebral artery dissection without cause so I am sure its genetic. I am a 43 yo woman who is 5’11” with similar symptoms.
It is good to hear you are getting help. Feel free to watch other videos that we have on Marfan Syndrome to learn more. Thank you for watching and sharing your story.
I am 15 my wingspan is longer than my height other than that i dont think i ahve other symptoms what should i do
If you have any concerns, it's a good idea to schedule an appointment with a doctor to discuss this further.
I have KTS on my right leg.
My son was diagnosed with soft features of Marfans syndrome. He is 7” his arm span is greater then his height he has flat feet can wrap his fingers around his wrist has problems with his eyes, his heart was ok but he has very low blood pressure and very low rest heart rate. They didn’t do any blood tests oh and his shoe size is 15 so I am wondering exactly what it means when they say he has soft features and what does he need to have to be properly diagnosed
Hi, I was diagnosed with Marfan syndrome when i was 14-15. You dont have to worry about it so much i have flat feet and an issue in my skeletal system and i have long arms and i have Heart atrial septal defect etc.. dont worry so much about his syndrome it is ok only worry if he tells you that he has a problem.
What a wonderful video! Thank you! It was very helpful!
Thank you so much for your kind words! We're thrilled to hear that you found the video helpful. If you think it could benefit others, we'd be grateful if you could share it with your friends, family, or anyone else who might find it useful.
I have malformation in veins i thik its kts..is it curable
I know I don't have this, but I definitely have mitral valve regurgitation. I knew something was wrong with my heart since I was like 10, but no one believed me. So when I was like 24 there was a free heart clinic. I went and was diagnosed. I had lots of pain off and on when I was younger, but it's gotten much better with age. I haven't had pain for many years.
What were you diagnosed with? And what kind of pain? I have mitral valve regurgitation and some signs of Marfan but have never been examined for that by a specialist or did any genetic test, I'm so scared since I like to work out
Might want to check and see if you have positive Beighton and Brighton score signs for ehlers-danlos syndrome...another collagen based genetic connective tissue disorder with several subtypes.
Any advance using ARNi and transcriptional activation? Does stem cells treatment work in repairing aneurysms?
Thank you for your question. We would be having the second session of this webinar where you can ask your question live. You can register here: buff.ly/41JG5Je
Thank you for all you both due. I am from the US, but the VEDS struggle is worldwide. I struggle often with medical practice because doctors do not take it seriously. I am grateful for all advocates world wide
This runs ramped in my family. My poor mother had to have blood transfusions on a regular basis. There finally came a time where her blood type literally changed. They had to create blood for her from 1 doner who closely matched hers. Ive recently done my ancestry and I have to wonder how and why? Im a direct ancestor of the Royalty of the world, and knowing how they inbreed, I just wonder if that has anything to do with it.
Thank you that was so helpful!
Is there any safer way to reconnect the colon?
Which are other similar Marfan's Syndrome illnesses? I would mean if any other "lighter" conditions can affect ligaments making them weaker and inclined to become loose. Thank you.
So Celiprolol is contraindicated?
How to scan health card
I was checked for Marfan syndrome through my school's health program but they didn't do any genetic testing. Just physical check-up and I was given the all clear. While I don't have long finger/toes or flat feet, I'm tall and I do have long legs, neck and arms. So I don't know....
Please keep in mind because I was diagnosed at 5-6 yrs. just having long limbs doesn’t mean you have it. You must go for further internal testing such as your heart will be the number 1 tell sign along with other tests
Hello sir! Iam suffering bleeding from nose since childhood when I become younger not regular bleeding but if I eat hot items or cold items I don't know it start bleeding from nose sometimes by coughing also got bleeding.. And since many years my weight is constant 45-46kg, I am suffering with clubbing fingers in hand and legs.. But I not faced any health issue. I started searching reason for my clubbing I found a doctor Sharath internal cordiologiest he said there was multiple avms in my lungs it is not possible to do treat them all but he did coiling to 3 avms which might Are serious at my age of 30. After I got married at age of 33 now Iam 41 with 3kids 2girls 1boy.. I not faced any problem.. On covid also I not faced any health problem but because of covid lockdown I faced financial jobless problem for almost 2 years in between this period my kidneys are failed now Iam on dialysis.. Weekly once.. Still Iam very active.. But doctors are asking me to get genetic testing hgt, isler weber render test... My request is there any treatment for my issue?? I couldn't effort money for genetic testing.. I am fear that is it effect to my innocent kids.. Please help me in easy way sir... Thank you
Is Glomuvenous malformation a rare disease? How many patients are there in the world?
Loose neck ligament are the cause of neurological symptoms in EDS. It causes pinching, compression and irritation of the vital nerves and compression of vital arteries and fluid drainage pathways to and from the brain. Comprehensive prolotherapy of all vertebrae joints and casings is an effective treatment when done in addition to realignment therapy Pinching of vital nerves such as the vagus nerve due to laxity in ligaments of the cervical spine is the cause of gastroperesis in EDS Patients along with many other neurological conditions including sudden stopping of the heart. Ruptures in most all organs and vascular tissues can be prevented with infarred light therapy 60 watts LED 1-2 feet away for 5mins to half hour sessions repeated every week to six weeks depending on the area and severity of laxity or weakening. With proper eye protection ofcourse.
I hypothesize that comprehensive prolotherapy as described by dr Hauser at the caring medical clinic in Tampa florida for treatments of mobility issues and neurological symptoms in addition to infared light therapy for the vascular system when done properly and together can extend the life of these patients significantly along with quality of life.
Immediate studies need to be done on type 3 collagen and the successful treatment of the vascular system with infrared light therapy specifically 60watts LED on the healing invisible red spectrum
It should be made common knowledge that an informal diagnosis is still good enough for comprehensive prolotherapy so that you don’t have to pay and suffer through years of further testing to know which type you have while you die waiting to afford a formal diagnosis
Thank you for this! I have cEDS, I have cola51 from my dad, and cola52 from my mom. (my mom isnt really symptomatic so Dr Lauktitis & Dr. Beyers wasn't sure that one was pathogenic by itself. The Cola51 is though, and we don't know how it reacts with the cola52 one. I am trying to find info about veins and vascular fragility in cEDS, but it isn't easy to find, as I only see vEDS in google searches often. Thanks for highlighting types other than hEDS.
Unm hospital was aware of my medical problems at birth never informed my doctor 👨⚕️ r my mother I have suffered years of medical problems and experiments
I'm sorry that the doctors were so irresponsible in your case and you had to go through that. I was dismissed by general practioner, when i said I saw signs in my daughter. Turns out I was right and the doctor was an ignorant fool. Best wishes to you, its not easy.
UNM as in New Mexico? I'm in that area and haven't found any help and have had to advocate for my health as doctors have not.
Eu tenho essa síndrome 😭
meine tochter auch, ich weiß nicht was uns noch erwartet, sie ist klein, aber ich liebe ihr bein und ich werde für sie da sein 🌸 und ich hoffe dir geht es auch gut
I have KTS in my left leg I had tow operations First one was to stop it getting longer than the other leg Second was for varicose veins And i feel well now
Hello can u tell me at what age did you do the operation and where ?
Plz can u help me
Hi help my child on foot kts
Hi where was this operation done, country and hospital name pls
معليش تقولنا أين عملت العملية
How is this disease diagnosed? Also, do you need to see a particular type of specialist or can a GP diagnosis HHT.
You need to see a genetic Dr