Getting to Houston

It has been an amazing ride getting to Houston. It started about 2 years ago when we realized Chloe was missing many of her milestones. We started doing test after test after test! We found out she had Charcot Marie Tooth Syndrome (that will affect her hands & feet in the future). CMT is due to having extra material on chromosome 17 (gene PMP 22). Her geneticist said that this had nothing to do with her delays and that they were likely just that, delays. He was certain Chloe would catch up.

We were glad to hear this but I had a gut feeling. You know those motherly instincts that are usually right. In April of 07, a study by Drs. Potocki & Lupski was published and it was about Potocki-Lupski Syndrome (creative, right?). It is a sydrome also caused by extra material on chromosome 17 (gene RAI1). I took the study to Chloe's next appt. with Dr. Scharer to prove to him that she had this syndrome. He also brought the study to prove to me that Chloe didn't have this syndrome. He said he wasn't going to test her for it because it was clear that she didn't have this syndrome. I told him that he really needed to test her for it just to put my mind at ease. Sure enough, a few weeks later, I received an email (yes, an email!!!) saying that she did, in fact, have Potocki-Lupski Sydrome (PTLS).

I immediately hunted down Dr. Potocki and we talked for a good while. She asked us to be a part of her study. That was 10 months ago!!!