Ehlers-Danlos Syndrome Type 4 is a rare autosomal dominant defect in the type-III collagen synthesis.
Hi Nick, The geneticist will be able to confirm an EDS 4 (vascular EDS) diagnosis with a blood test. Although the diagnosis will be scary it will allow your doctors to treat you appropriately. It sounds like whether it is positive or not they will want to treat you like you have a very fragile vascular system. Feel free to ask any questions and take a look at www. Http://Ehlerdanlosnetworkcares.org Renee
Hi, I'm Nick, I'm 28 and after 4 years of enquiries, two days ago I received a provisional diagnosis of EDS 4, but I have to have it confirmed by a geneticist. My problems started in 2007 when i was admitted to hospital with very high blood pressure (I am now hypertensive) bleeding kidneys (blood in urine) and a range of other problems. Whilst I returned to what I considered good health, I had a numb leg in the winter and went to see a vascular consultant about this as I was missing a pulse in the leg. 2 days ago, after an MRI and CT scan, he told me he thought i had EDS4. Needless to say this has been devastating news. I wanted to speak with others with the same condition and just see if this helps in anyway. I dont seem to fit the clinical picture for EDS4 but i think i have the arterial ruptures that are a tell tale sign.
EDS IV is a very rare and different case to all the other ones. I'm 15 and have was diagnosed when i was two, you always have to concious about knocking yourself as rupturing of organs and main arteries is a common occurence and also the breakage of the skin which is a lot harder to heal. It sucks a lot and it frustrates me too, but its good to be able to talk to people who have it :) I know that there is a doctor in Sydney called Eric Haan who focuses of EDS, maybe it would be worth emailing him to find out more. Good luck.
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
EDS Cognition Researcher
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