Logo created by Season Atwater
What is 2q23.1 Microdeletion/Duplication Syndrome? 2q23.1 Microdeletion/Duplication Syndrome is an extremely rare genetic condition that affects approximately 200 people worldwide. Cases have been reported in Argentina, Australia, Belgium, Belarus, Canada, China, France, Italy, New Zealand, the Netherlands, Spain, the United Kingdom, and the United States.
On February 23, we are holding a virtual World Awareness Day. Our goal is to reach out to the newly diagnosed with raising awareness about 2q23.1 Microdeletion/Duplication Syndrome.
How can you help? It’s easy. Find something blue to wear and take a picture of yourself wearing it. post it on one of our social media sites listed below, using the hash tag #2qworldawarenessday. Then share this information with everyone you know and ask them to do the same. With your help we can reach thousands of people.Facebook: https://ww.facebook.com/events/600818539982916/ Twitter: http://www.twitter.com/2q231 Instagram: http://www.Instagram.com/2q231 Pinterest: http://www.pinterest.com/2q231
Thanks so much!
Editors Note: I just wanted to give a heads up to all of our visitors – We will be undertaking many updates during the next several months. We encourage you to visit us again in the near future to see all of our changes
-Loren Pugliesi, M.S.G.C.
Awareness. Support. Research. 2/23/2013
(Logo created by the families of children with 2q23.1 deletion/duplication syndrome)
This year on February 23, 2013 will be the first annual 2q23.1 Awareness Day. With goals to educate the global community and promote AWARENESS of 2q23.1 Microdeletion/duplication Syndrome, we hope to find other families around the world with a 2q23.1 Microdeletion/duplication Syndrome diagnosis and offer SUPPORT. We wish to inspire medical professionals to RESEARCH 2q23.1 deletion/duplication syndrome, so that there can be a better understanding of symptoms and expected outcomes.
2q23.1 deletion/duplication disorders are extremely rare, with only around 70 documented cases in the scientific literature. These disorders typically fall into Autism Spectrum Disorder, which causes a lot of confusion. The chromosome mutations and symptoms have great variation in each child. Most commonly, children with this disorder experience seizures, intellectual disability, microcephaly (small head size), speech impairment, distinct facial features, and developmental delay. Even though these children seem widely spread throughout the world, and so few in number, more diagnoses are continued to be made at a growing rate. We need to spread awareness to the medical professionals to help assist in accurate diagnosis of children with these symptoms. We need to spread awareness to geneticists so that research on 2q23.1 deletion/duplications can be funded. We need to spread awareness to families to help give support and a sense of community. And we need to spread awareness to society as a whole, to help make this disorder less misunderstood.
Check back soon for more details on 2q23.1 Awareness Day!