Down Syndrome
What is Down Syndrome?
Down syndrome is a disorder originating from an additional 21st chromosome.
| Name | Description |
|---|---|
| Flat nasal bridge | Flat nasal bridge |
| Short neck | Short neck |
| Congenial heart defects | Congenial heart defects |
| Short stature | Short stature |
| Mental retardation | Mental retardation |
| Name | Description |
|---|---|
| P Steele | For a look at the impact of one young man with Down syndrome go to www.ryanstories727.wordpress.com. |
Last updated 7 Jan 2013, 07:39 AM
7 Jan 2013, 07:39 AM
Hi, My baby brother ( Michael) (now 50 years old) has Down's Syndrome. He has been relatively healthy for most of his life but was diagnosed mid 2011 with CLL (Chronic Lymphocytic Leukemia). I thought I had all the bases covered as far as predictable illnesses were concerned but now I found out that this cancer is quite common for DS people. Any thoughts? We live in Botswana so specialised medical care means travelling to another country (sometimes South Africa and sometimes Italy or Germany). Hope to hear from you soon!
Clinical Trials
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.
- Complete the screening form.
- Review the informed consent.
- Answer the permission and data sharing questions.
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.
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My daughter has Trisomy 21. I also work for a support network trying to match up families of children or adults who have special needs or medical conditions.
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Created by BabySister | Last updated 7 Jan 2013, 07:39 AM
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