Léri-Weill Dyschondrosteosis is a rare disorder which results in dwarfism.
Thanks for the response. I appreciate you taking the time. Like you, I've had to do A LOT of my own research into this condition for my daughter. Although she does have a hand/wrist ortho who is very familiar with it, and will do surgery if/when she needs it (still waiting to see how the deformity progresses). But figuring out all the other issues she has, and if they're related to the Leri-Weill has been a struggle. Do you have a lot of wrist pain? Have you had any surgeries? Another one of the Leri-Weill issues still to deal with for my daughter is her height as she is definitely shorter. I wonder, do you mind if I ask how tall you are? Right now, my daughter is 15th percentile, which is really pretty good, so we're not sure whether or not do start growth hormone. Her Endo projects she'll be 4'8" - 5'0" adult height w/out hormone treatment. Thanks again.
My experience has not included a large number of sprains, fractures, etc. I definitely have joint pain (primarily my knees) and I do have some type of issue there. Of course I also have the wrist/arm issues. :) When I was diagnosed (25+ years ago), it was recommended a see a specialist for my knees and for the MD, but really since then all I've learned has been through my own research. At the time, the doctors treated it as "here's what it's called and there's nothing we can do about it, so good luck to you". I know this doesn't really help, but wanted to respond regardless. :)
I would like to know if others with leri-Weil have joint and bone issues beyond the wrist deformities. My 9 yo daughter has had numerous fractures, sprains, and subluxations, and general aches and pains. We are trying to determine if its related to the LWD or something else. Would LOVE to hear from others w LWD.
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.
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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.
Someone figuring out how to live with dyschondrosteois
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