Cri du Chat Syndrome
What is Cri du Chat Syndrome ?
Cri du Chat Syndrome is a rare genetic disorder due to a missing portion of the short arm on chromosome 5.
Last updated 20 Feb 2010, 02:19 AM
20 Feb 2010, 02:19 AM
Hi, I picked this community because it is close to my son's diagnosis. He has a 5p deletion and the geneticist was pretty sure he had Cri du Chat but it turns out he has partial trisomy 11 as well as the 5p deletion (unbalanced translocation). So, hope you don't mind me hopping in here. My little guy will be 5 in April. He is pretty significantly delayed, more so I think than most kids with cri du chat. He started walking last summer, but he still prefers to crawl in the house. He doesn't feed himself and needs food pureed. He used to say about 10 words but lost his speech around age 3. It turns out that he has progressive hearing loss and wears hearing aids now. He also has reactive airway disease, seizures, a couple heart surgeries, hernias, and so forth. More importantly, he is just about the sweetest, cutest little man you could ever meet and he gives big hugs to everyone in reach. That's a little bit of our story. I'd love to hear yours, especially anything you can share about speech and feeding. Thanks! -Dawn
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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.
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