Chromosome 5q deletion syndrome is a rare disorder caused by loss of part of the long arm of chromosome 5.
Hi Caitsmon,I live to in Ny too, my phone 716-434-1046 if you need to talk,feel free to call me...
It is so hard not knowing whats in store with our babies! my son Jakob is almost 4 years, severely delayed around 6-9months his mental development is and this hasn't changed for quite some time, not talking, walking, communicating.Has alot of medical issues such as heart, kidneys, piece of skull missing, low muscle tone, etc he gets feed through mic key button. Some days I find it soooo tough, but its the way of life for me, I love my little boy always so smiley and happy :) if anyone wants to contact me i am on Facebook MELISSA BRODIE, send me a request and a message just so I know that your from rare share. Jakob's deletions are 5q break points 5q34 5q35.3,
Hi. My daughter Caitlyn will be 3 in July and has 5q deletion. Q21.1-q23.1. She has developmental delays, including speech and motor skills. She has low muscle tone but PT has been helping w that. She was recently diagnosed w Celiac disease but they are not certain that is connected w her 5q disorder or not? It does not run in either of our families. Would also love to talk w others going through what we are! Drs tell us they just don't know what her future holds as there is not much research..so hard to hear that!
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.
This is such a rare syndrome so I am desperate to find others who maybe share...
I have a son who is now 1yr and 4 mths old. He has just been diagnosed with Chromosme 5q 14.3 Deletion. I was just wanting to talk to other parents that have a similar condition as my son....
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