We picked up chicken nuggets for the oldest kids and after dinner, we went to the neighborhood playground. Baby J and Bean had so much fun. Baby J kept running back and forth between the toddler and big kid playgrounds. Bean squirmed and wiggled and wasn't happy unless he was down and playing. He really enjoyed the slide and swing.
They had a great time and were sad to leave.
Tomorrow, we are going to a different kind of playground - Children's Hospital of Pittsburgh. Well, Baby J thinks it's a playground. They have so many fun games and activities. His favorites things are the model train and the aquarium.
Bean won't be so happy. He has developed a severe case of white coat syndrome.
This is our first appointment back at Genetics since receiving his Williams syndrome (WS) diagnosis. I'm expecting a full physical exam again and an information period.
The day that the genetic counselor called with the results, she said to come back in three months for follow up and that we would probably have a lot of questions by then. I was surprised that she was waiting so long to schedule us but she was right. We have had a ton of questions come up since that call.
Typically, I keep a running list of questions between doctor appointments and present the doctor with a bulleted list at the beginning of the appointment. I'm hyper-organized when it comes to Bean's specialists because I have found that we get so much more out of appointments if I go in really prepared. You only get 10-15 minutes of his/her time and a written agenda and brief medical history helps me to make sure that we cover everything.
Since so much time has lapsed since getting the dx, I have already had a lot of my questions answered. I am surrounded by great resources - pediatrician, specialists, therapists, the Williams Syndrome Association and other WS moms - and I've been able to get answers to most of my questions. And I would be remiss if I didn't mention my degree from Dr. Google.
So I'm heading in to this appointment without a whole lot of questions but I do have a few important areas that I want to cover:
- We want a full copy of the report from his microarray analysis. This will tell us specifically which genes are missing from chromosome 7. It will also tell us if there are other genetic anomolies.
- I want to know their outlook for Bean given his current health and developmental state. I know this is a loaded question and I'm not likely to get a concrete answer but I still need to ask.
- I am very interested in taking Bean to a WS clinic and I am interested in their input on what to expect and the best place to go. We are considering Philly, Columbus and Boston.
- We need to start adding some sort of dietary supplement to Bean's food and drink for calories. He is already refusing the accepted hypoallergenic supplements (Duocal and Nutra) so his nutritionist is suggesting a vitamin/calorie supplement. The problem is that they all contain significant amounts of calcium. Given that Bean is borderline hypercalcemic (even on a dairy free diet), I need to find out what amount of calcium supplementation is acceptable without compromising his kidney function. I am also concerned about the long term affects of going without calcium and vitamin D on his bone density.
- We need to get Bean's hearing checked again. I'm not sure whether I want to take him back to audiology or head to an ENT because I would like to have his tonsils and adenoids checked. He snores. A lot. So, I'm thinking an ENT could kill two birds with one stone, so to speak.
- It is next to impossible that Husband and/or I are carriers for WS. Still we plan to pursue the genetic screening that they offered after receiving the dx before making a decision about future children. Bean's genetic counselor will coordinate this for us.
And if we get out of there with enough time to spare, we might just be able to go to the real playground!
