Hi, my name is Kris Frank. My son Andrew (Drew) is 7 years old. He had a difficult birth, cord around his neck and blue, though he pulled through and did well within a couple of hours. We noticed that he had tortocollis at 6-8 weeks. He continued to have developmental delays, we were referred to a Neurologist at age 13 mos who diagnosed mild congenital hypotonia. With the help of PT/OT, he walked at 21 mos. Through the years, he has had multiple dental issues and procedures due to imperfections in his teeth. He also continues to have low muscle tone and recently diagnosed scoliosis. There was a concern about tethered cord, but after an MRI last week, it was ruled out. He is now being fitted for orthotics to help with his leg and back pain (hoping that is...)

We were referred to a Genetics clinic from his Neurologist. We continue to notice multiple learning disabilites. First grade was an exceptionally difficult year for him. He has an IEP in school, as well as receiving private speech and PT 1xweek each. We are also in the process of doing Neuropsych testing. We received news of an abnormal chromosome result and a request that we get tested. We tested negative. Drew's results were a 10q26.3 duplication, a very large one. As of now, the Geneticist and Unique have been unable to find anyone to match his particular disorder. It is frustrating as we do not know where to go from here. A cardiac workup has been recommended since there is some correlation with disorders similar to his.

I'm not sure if we belong in your group, but you are as close as I have been able to come to a support group. I'm an RN and have been trying to use as many resources as possible to find info but have yet been unsuccessful.