Rareshare

My grandson, born May 23, 2010, diagnosed shortly thereafter with Monosomy 21 Mosaic. He has a small portion of the 21st chromosome looped at the end of the tail. Doctor's in Toronto are not sure if it is useful to have this. All I've read is that there are no long term case studies on this rare disorder. Does anyone have anything to share about this disorder. He looks normal, nothing like I've seen on the internet. Currently has an enlarged heart, has trouble feeding and regurgitates his feed choking on it and having to be suctioned. He has gained weight from his 3 lb 3 oz birth, but it's up and down depending upon his digestion.

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Clinical Trials

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.

Complete the screening form.
Review the informed consent.
Answer the permission and data sharing questions.

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.