Initially when my son was diagnosed with 16p11.2 duplication I could find no information on it and what it meant. We were given a genetic diagnosis and basically told "Good luck with that". My hope is no one will have to go through what we did again. We muddled through Christopher's diagnosis in those first several months until we could go to a geneticist who did know what he was saying. It took us driving from central New Jersey to Boston, Massachusetts. Parents shouldn't have to drive 6 hours away to find a doctor who knows about this syndrome!
Because 16p11.2 isn't known about it has made things difficult with planning services with schools and with additional specialists. No one knows about this syndrome still! We are participating in a genetic study that will help us plan for school better.
What we are trying to do is:
1: Explain what the 16p11.2 duplication/deletion is.
2. Do some fundraising to pay for a trip this summer that we are trying to take to a get together with other 16p families where we can not only talk to other families BUT gain even more information.
What I am doing to do this week is give away every night of my fabulous bracelets in red, yellow, and blue for everyone that donates to our 16p11.2 syndrome.
Every day I will be sharing information about what the 16p syndrome is and what it means to my family. I’m hoping that others can join in, share information or simply ask questions about the syndrome.
To win a bracelet you must, mention
1. 4 Little Monkeys in a post along with the 16p11.2 syndrome and link it back to me so I have proof.
2. Donate to our trip. It doesn't matter how big or how small. Afterwards leave me an e-mail letting me know what size and color. I have red, yellow, and blue. They say 16p11.2 syndrome awareness on them.
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