Opitz G/BBB Syndrome is a genetic disorder caracterized by wide-spaced eyes; and breathing problems and difficulty swallowing.
My son who is 27 months was just recently diagnosed with opitz syndrome this has been a very rocky road for us he has been sick ever since he was born but only had a some of the symptoms of opitz so it was left undiagnosed instead we were sent to multiple specialists who kept telling us nothing was wrong with him and kept putting us through multiple experimental procedures to rule out other things.. I am sharing my story to see if anyone else can help me cope with his diagnosis because his doctors were unable to give us alot of information about his syndrome. He currently has a feeding tube in his stomach and has therapists coming to the home that are helping him. I am just so overwhelmed right now and im hoping our story may help others. Thank you, Crystal Hutchins
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.
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