Wednesday, April 2, 2014

Nebraska Mom Fights Medicaid for Sick Baby’s Transplant

Nebraska Mom Fights Medicaid for Sick Baby’s Transplant: A Nebraska mother has turned to the Internet to raise money for surgery that she hopes will save her baby’s life after Medicaid denied coverage of the procedure. Lawrence Bolden, who turns 1 year old in April, has DiGeorge Syndrome, an uncommon chromosomal disorder that...

Thursday, November 21, 2013

Tomorrow, November 22, is our self-proclaimed Emanuel Syndrome Awareness Day. (because it affects chromosomes 11 & 22, and November is the 11th month...!) 


Help us spread the word by using our badge as your profile pic at least for an hour tomorrow - visit our website at www.emanuelsyndrome.org to learn more about our awesome kids, and view a video of our kids here, done by our awesome mom Susan McMackins Silva

We are still a relatively small bunch - but we are well over 250 known cases in our group. Carriers of the balanced 11/22 translocation, like me, have a risk of having a child affected by Emanuel Syndrome, which can cause numerous medical problems and developmental delays. Like all of the people C22C represents, our kids are fighters and do things we never thought possible.

Emanuel Syndrome is so named for my hero, Dr. Beverly Emanuel, for all the work she has done over the years to understand the translocation. Our group advocated to have this condition named in 2004 (it was previously Supernumerary der(22) Syndrome among other names) and we were able to publish the largest study on kids with ES in 2009 




Not too shabby for a small bunch of parents  I'm proud not only of my daughter Maia, a young lady now, turning 18 this past March, but of all the kids our group supports. Emanuel Syndrome is not an easy diagnosis, but we are learning so much from each other, and that is worth celebrating! Thank you for taking a moment to help us spread awareness, not just tomorrow, but year round! #EmanuelSyndrome