Hypophosphatasia is a rare metabolic bone disorder characterized by decreased tissue nonspecific alkaline phosphatase and defective bone mineralization.
|Bone pain||Bone pain|
|Early loss of deciduous teeth||Early loss of deciduous (baby) teeth|
|Bone malformations||Bone malformations|
Check out this article about Claire Barrow, a 13-year old girl living with hypophosphatasia. Claire created a social media app for rare disease communities called “Rare Guru”. Rare Guru allows individuals with rare diseases to connect with others with the same condition.
HI LISAAKEI I have two different mutations but you can check your mutations out on this link. http://www.sesep.uvsq.fr/03_hypo_mutations.php Are you on facebook? there is a support page for hypophosphatasia people.. https://www.facebook.com/groups/softbones/ I'm Sue and I have HPP too
Anyone out there have this ALPL gene mutation?
Welcome to the Hypophosphatasia RareShare Community. Feel free to post your questions or new discussion topics about this disorder on this forum. For those that haven’t yet joined this community, you will need to do so in order to post new threads or reply to current posts. It’s free and easy to signup. If you have any questions about this community or RareShare in general, please feel free to email me. You can find my email address in my profile, under the “About Me” section. -Eric
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.
we had never even heard of the disease until our baby was diagnosed at not even a day old
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