X-linked Hypophosphatemia is an rare genetic form of rickets in which the ingestion of Vitamin D is relatively ineffective.
Check out this article about Karabeth Souza, an eighth grader living with X-Linked Hypophosphatemia . Souza’s parents noticed something was wrong when she was having trouble walking at 18 months. Shortly thereafter, she was diagnosed with X-Linked Hypophosphatemia. When were you first diagnosed with XLH? How did you cope with the news?
Hi there I am a journalist working on a new UK-based support website for people with XLH (X-linked hypophosphatemia – a form of rickets). I am looking for case studies for the website. People who would be happy to share their experience of living with the disease in order to help other sufferers. There is a fee involved to cover your time. Please do get in touch if you have XLH or have a family member with the condition. NB this is a time sensitive request posted on 10 January 2017. Please email me at email@example.com All the best Lucy Banwell, Freelance Journalist
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.
I am a journalist working on a new UK-based support website for people with XLH (X-linked hypophosphatemia - a form of rickets). I am looking for case studies for the website. People...
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