Ornithine Transcarbamylase Deficiency is a rare metabolic disorder the affects the enzyme ornithine transcarbamylase and the body's ability to get rid of ammonia.
Also, I just wanted to let everyone know that there has been a Facebook Group started for OTC Deficiency Awareness. Please start a Facebook page and join the group as this is a great way for parents & patients to learn from one another.
I got lucky when I went into my coma because when I went into my coma I ended up being airlifted to Johns Hopkins. This is where Saul Brusilowe (one of the pioneers of OTC research worked). As a result after seeing my symptoms, my size and talking to my mother about my eating habits and my medical history I was diagnosed almost immediately. Before I was diagnosed I used to throw up when I ate a lot of protein and I also used to get what I thought were migraine headaches. These headaches stopped after I started treatment for OTC.
If you read my post I just lost my twenty five year old fiance and I was wondering in your case Amy how fast and how the doctors were able to determine the diagnosis of the disorder when you had slipped into a coma. Did you have any symptoms any other time in your life that were more unoticable?
Hi! My name is Amy and I am a 35 year old female with OTC. I was diagnosed at age 12. I would be be more than happy to talk to patients or family members to help them deal with OTC.
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.
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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.
To Whom It May Concern,
My story is below and I found out about Urea Cycle Disorders and I wanted to tell you about my twenty five year old fiancé. From what I...
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