It's held annually on the last day of February (February 28th or February 29th in a Leap Year) to raise awareness for rare diseases and improve access to treatments and medical representation for individuals with rare and genetic diseases and their families.
Most people are familiar with well know genetic conditions like Down syndrome. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21. We learned last June that Sara has 2 genetic conditions: 15q13.3 microdeletion syndrome (which is on the RARE List) and 16p13.11 microduplication syndrome (which is not yet on the list....but just recently became a "named" syndrome).
Basically, Sara is missing a piece of chromosome 15 and has an extra piece of chromosome 16.
15q13.3 microdeletion syndrome is a rare condition that has only recently
been characterized; therefore it is difficult to pinpoint just how often it occurs. This is because there is a wide range of disability (variable expressibility), and some people with milder symptoms may not be diagnosed. Additionally, some people with the microdeletion may not have any symptoms at all. 15q13.3 microdeletion syndrome affects males and females of all ethnic backgrounds. It is estimated to occur in one out of 15,000 people.
When Sara was diagnosed, I searched and searched for information. There was little conclusive information to be found on her genetic disorders. Even the doctors couldn't tell us much since this is such a new area of research and they hadn't seen a case like Sara's with both a deletion and a duplication in similar areas. It's frustrating since 50% of rare diseases do not have a disease specific
foundation supporting or researching their rare disease (16p does have a research group called simons vip connect; however, they are not focusing on the exact location of Sara's duplication)
Thanks to Facebook, I have been able to connect with other families who are dealing with the same diagnosis, many of whom also have kids on the spectrum. While it is a valuable resource, the one thing i have learned is that there is a wide variety of issues associated with genetic deletions/duplications, including heart issues, autism, learning delays, major speech delays. Some are greatly affected, while others are not affected at all. Frustrating....yes. But, it's just another reminder that Sara will show us what she needs day by day and step by step.
How lucky is Sara to have been included in this video featuring some very special kiddos with 15q13.3? Check it out....
Seeing these families and the beautiful kids reminds me, yet again, the God make NO mistakes!
For more information, check out: http://globalgenes.org/ and http://www.rarechromo.org/html/home.asp
2 comments:
Thanks for all the info. Did not know about her 16! Glad the internet has allowed you to find other families. Sara has wonderful parents and a great life ahead of her. Oh and COUSINS!!
Well that's cool (the video). It must be very frustrating not knowing exactly what to expect but no kid comes with a manual. Sarah is a great kid and she'll let you know what she needs.
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