Nail-Patella Syndrome is a rare genetic disorder characterized by hypoplastic or absent patellae, dystrophic nails, dysplasia of the elbows, iliac horns, clubbed feet, glaucoma and kidney disease.
Hi Maria, I just found this community, so now you're not the only one here! Hopefully, some others find us, so we share our knowledge and experiences to help educate people with NPS, thier families and their medical professionals. Thanks for getting this group started! Carol
Well, it looks like I'm the only one in the NPS community! They say that NPS occurs I in 50,000. I belong to a great support group and interact whenever someone brings up something of interest. If you have NPS, email back and I can give you the website to go to. I'd never heard of NPS until about 2 1/2 yrs ago when my grandson was born. His little foot was all twisted up and he had the same kind of thumbnails as my daughter and I. I began a search on the web about club foot and strange thumbnails. Low and behold, I found all this information on NPS. It was really amazing! I guess that's all. I hope I don't remain the only one in the community. That would really suck!
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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Community leaders are active users that have been touched by the rare disease that they are a part of. Not only are they there to help facilitate conversations and provide new information that is relevant for the group, but they are there for you and to let you know you have a support system on Rareshare.