Thank you Beth for this heartfelt request for support.
Hey Friends--
I know over the last few months you've seen on my page a request for voting for the 1p36 DSA Pepsi Refresh Project. Here's the deal. 1p36 chromosome deletion is Jordy's diagnosis. It is the reason she developmentally is 18 months, it is the reason we spend countless hours in therapies each week, battle seizures, insurance companies, medical systems and fight for her rights to live her life as a happy, healthy human being just as any other child. The first 6-1/2 years of Jordy's life we lived in the darkness of not knowing what caused all of her health issues. When we finally received a diagnosis, due to the technology becoming available, we met up with a small handful of other parents with the same diagnosis. We finally were not alone. Over the years, as technology has improved, more and more families are finally able to have their "unknowns" become answered as they, too, receive a diagnosis. Within the past two years, the families joined together to form a non-profit called 1p36 Deletion Support and Awareness (or 1p36 DSA.) Today, there are over 300 people on our listserv and over 500 people on our Facebook page. We are not alone, but we are small and we need help to spread the awareness among other physicians and clinicians to help find the other families who may believe they are also living as "undiagnosed." With the chromosome deletion incident rate at 1/5,000 births, the numbers of children out there who are currently undiagnosed is perhaps rather high and the more we can share the general characteristics with medical providers, the more we can reach families who, like we once did, may feel completely alone in their journey raising a child with disabilities.
This past Sunday I walked through a local park and was unknowingly in the middle of a March for Down's Syndrome event. I was in a throng of 5,000 people. As I walked alone through this crowd, I held back the tears realizing just how lucky and blessed these families were to have a sea of 5,000 surrounding them--5,000 right in my local area who understood each other, the struggles, the joys, the pains and I longed to see the day when there, too, could be a sea of 5,000 surrounding me as we stood united with our children with 1p36 deletion. This will only happen if we spread the word--much like the early pioneers of those with Down's Syndrome had to spread the word on their chromosome disorder and band together, we, too, are the early pioneers of 1p36 deletion.To that end, I'll keep asking for your help. I'll keep asking for your votes. It's been a long journey that no family should ever have to face alone and this is one way in which you all can directly help us. It's a matter of following the links posted and clicking "vote" or texting in your vote. It's two seconds of your Facebook time and a world of difference in the lives of those with 1p36 deletion as we gain funds to spread the awareness.