6 months - diagnosis

So, at our 6 month well baby check-up, Ayden Jane looked good. She was 50th percentile for length and 20th for weight and was smiling more and even making some noise. Our pediatrician said to go ahead and start solid foods and we continued to hope that whatever Ayden Jane had been struggling with was something of the past that she was somehow working through.

We gave Ayden Jane the standard American first foods starting with grains. She loved it and had no trouble eating it. It felt like the stress of eating was finally subsiding as she still was not thrilled with her bottle. Ayden Jane began to pack on some weight, but it was almost a relief and our others had all been chubby babies... It was gradual to us.

In early June 2008 Ayden Jane was 8 months. We had a follow up appointment at MUSC and I remember having a hard time rounding up the energy to go. It was always draining going to the follow ups and having them ask questions and pick apart Ayden Jane. It was all done to help her and solve the question of what was going on, but it was hard. She was 'filling out', starting to sit up on her own, head control was much better... Where I thought we were was sooooo different than where we really were.

As it turned out, Ayden Jane's growth curves had crossed and just when I thought things were beginning to look good, the geneticist saw things very differently. She was now 20th percentile for length and 50th for weight. She had not grown at all in 2 months. (In length that is. and I even made the geneticist measure her again!) We were sent to the lab for blood work and I once again had the words Prader-Willi Syndrome pounding in my head. How could it be? We had already dodged this one....

The test was positive for PWS UPD. Ayden Jane was diagnosed with the form of PWS that requires a more difficult test. As near as I can tell, the FISH test which they had done when AJ was much younger picks up the deletion form. It can tell that there is genetic material missing in that region. However, Ayden Jane has 2 copies of my genes on that gene region, which of course, still means no copies of Daddy. Because there is genetic material there the FISH test cannot pick up the PWS via UPD. The methylation test can look close enough to tell that genes in that area are duplicate and that the region is shut down by the body because of it. Either way, the result is PWS.