Pierre Robin Sequence is a chain of certain developmental malformations.
Long time since the 2 previous posts. I wonder how Jessica and Mailady68's son are doing? My daughter was born in 1971 with Pierre Robin Syndrome and trisomi 22 (11q22q translocation). She is very severely disabled both physically and mentally. I looked after her at home till she was 24, she is now in a wonderful Care Home, I see her often. We live in England. I am happy to answer any questions.
Hi, I have a teenage son that also was born with Pierre Robin. I'm sure a lot has changed with your daughter since you wrote this post. But I can share our experience and would be interested to hear how your daughter is coming along.
Hi My daughter Jessica was born feb 04 2011 and we found out on the 5th that she had Pierre Robin Sequence & Hypotonia. It was such a shock as I had never heard of it before. Since then I have done quite a lot of research and I am thankful that Jessica's microgranthia is very mild and she really hasn't had too many problems because of this. She also has a terminal deletion on her No4 Chromosome and we just have to wait and see what will transpire for her future. We are waiting to see the Plastic Surgeon again to see when he will operate on her cleft palate. She came home feeding with the Haberman and a Nasal Gastric Feeding Tube but she has now been without this for about a month. She was not piling on the weight previously and now she is only putting on very small amounts of weight but she is so much happier without the tube. We are feeding solids now and she is slowly getting used to & learning how to cope with them. It can be quite scary at times. I am looking to reach out to others who are going through similar experiences as I am.
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.
Start your own! With a worldwide network of 8,000 users, you won't be the only member of your community for long.
Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.
Join Rareshare to meet other people that have been touched by rare diseases. Learn, engage, and grow with our communities.FIND YOUR COMMUNITY
Our rare disease resources include e-books and podcasts
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.