Beckwith-Wiedemann Syndrome is a congenial disorder characterized by an increased risk of childhood cancer and certain features including a large tongue, abdominal wall defects and low blood sugar.
Hi I have a three month old daughter who has been diagnosed with BWS. he was born with exomphalus which was repaired on Day 1 and also has ear pits on one side and has an enlarged tongue. Our lives are slowly getting back to normal and Charltte is having less and less problems everyday. She still is prone to choking a far hit but that had just become part of our everyday living. The surgeon ensures us she should have no trouble with her bowel s the sac around it protected it in utero. However we have had a bout f gastro this week and her belly was huge, she couldn't even fit in her 2 year old brothers bath seat so back to the doctors we go. The doctors appointments are slowly becoming further apart and now we are seeing respiratory physician, pediatric surgeon, pediatrician, geneticists and the gp. And yes I'm over it.but it must be done. I am really interested in talking to some othe families that also have children with BWS.
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.
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