CHOP. Children's Hospital of Philadelphia. That is where we spent our day on Monday. CHOP's genetic department sees children with the 22q deletion and duplication (Izzy has the duplication) so we wanted to take Izzy to make sure we were on the right track with her health and therapies, etc. Many children with the deletion have medical issues and the duplication is more puzzling so they like to rule out any health issues.
The thought of driving to Philadelphia with the rush hour traffic was not giving happy thoughts! So a friend recommended that we take the train. Woke up at 5:00am, quick got ready, had 2 wide awake kids before 6 and left to take Isaiah to the babysitter. After dropping him off headed for the train station. Now I really did not have anxiety about these appointments at CHOP, but I did have some anxiety about the possibilities of my child's behavior on the train and throughout the day. (We are having some behavioral problems and tantruming with screaming and kicking). Thankfully, we made it through the train ride with no major meltdowns (Izzy was pretty much the only child on the train and everyone else was either sleeping, working on the computer or on their phones, etc....so you can imagine how quiet it was!).
Our first appointment was with the genetics department at 9:30 am. (I may be giving too much detail for you to read, but this is also for me so that I can remember what happened, etc.). Many people were coming in and out talking with us including a genetics fellow doctor, a doctor in charge of the 22q program and the genetic doctor that is in charge of the genetics department at CHOP. They asked us many questions about her developmental history, my labor/delivery, and both of our families history. They took some measurements of the distance between her eyes and looked at her fingers, feet and ears because sometimes they can give a clue about some genetic conditions. There were no major issues with that. They told us that she looks "normal" and there is nothing about her physical appearance that would say she has any abnormalities. At some point in time, Izzy decided she wanted out....and I couldn't blame her...being trapped in that room without any time to run was not fun. So a wonderful student that was there took her into a nearby room to color with her and play...now we could talk without interruption.
Izzy saw a developmental pediatrician at CHOP when she was 2 and the doctors only had that to go by until they met her. They seemed pleased by the progress she has made but they said there is no way to know her maximum potential because the duplication is so variable. Variable, meaning, some people who have the duplication have no learning disabilities and appear to be completely typical developing. That being said, there is a chance that Isabella's duplication may having nothing to do with her delays and there is something else causing it. Despite this, they did not feel any further genetic testing was necessary and they felt we could assume her delays are from the duplication. Make sense? Genetics is so complicated but also fascinating at the same time.
We left that appointment with them wanting us to have her seen by a cardiologist and kidney doc just to check off that she doesn't have any health issues (they like to run the kids with the duplication through the same testing as the deletion since they don't know as much about the dup). They also wanted us to follow up again with the developmental pediatrician so they can keep tabs on her progress and assist with recommendations about schooling, etc when the time comes. On to the next appointment.....the pediatrician. We were 40 minutes early and meltdown #2 occurred! There is no ability to reason with her at this stage and so it is difficult controlling a child that is making herself as stiff as a board and screaming (yes, picture this in a waiting room)! They were o.k. with us going down to get lunch first before the appointment so that's what we did. Ced put her on his shoulders and we walked to the cafeteria.
Had a decent lunch and back up to the pediatrician. All of the children with the 22q dup see the pediatrician at CHOP to look for heart murmurs, immune problems or any other medical issues that may arise. She got an A on that...very healthy! If I remember correctly he said that if she doesn't have any of these health problems found now then they won't arise when she is older (from the duplication that is). Had 30 minutes until our next appointment with speech and I have always been concerned that Izzy may be borderline anemic so the pediatrician said they could check her for it and in that 30 minutes she had blood drawn. Poor girl cried as any child would but once she could pick out a sticker the tears lessened!
Now we headed to the speech therapy department (phew....last appointment of the day). Started with her at 1:30pm and she completed a standardized test to evaluate Izzy's level of comprehension and expressive language. Izzy tested at 2 year, 1 month old for both receptive and expressive language. I have to admit I was disappointed. She had been evaluated in April or May and the same test had been done. Since I saw her performance in both tests I was excited because I could tell she was doing better this time around however she tested at a very similar age both times. Despite my disappointment, it was fun to watch my husband's expression during the test. He got so excited whenever she got an answer right and it almost seemed he was holding his breath waiting for her response. Whenever she got one right he would smile and look at me.....he was a proud dad. I was proud of her as well!
The day was over and we started our walk back to the train station. Got some dinner for the way home and boarded the train. The first part of the train ride went smooth and Izzy was watching some videos on the IPAD that we had downloaded. Something happened....her video stopped and not sure if that is what caused meltdown #3 or not but we had meltdown #3 on the train. Thankfully we were in the first seats up front and so there were no seats on front of us. I had her for awhile and after a time Ced took over and tried to get her to calm down. He set her on the floor up front and held her there and she had another "timeout". At home when she goes into timeouts she seems to do better after she gets out of them so hence that is why all the timeouts on the trip. At some point (it seemed like an eternity) she calmed down and our stop came up so fast that we almost missed getting off.
Well, that was the day. It seems that we will be making some more treks to CHOP in the future.
The day was over and we started our walk back to the train station. Got some dinner for the way home and boarded the train. The first part of the train ride went smooth and Izzy was watching some videos on the IPAD that we had downloaded. Something happened....her video stopped and not sure if that is what caused meltdown #3 or not but we had meltdown #3 on the train. Thankfully we were in the first seats up front and so there were no seats on front of us. I had her for awhile and after a time Ced took over and tried to get her to calm down. He set her on the floor up front and held her there and she had another "timeout". At home when she goes into timeouts she seems to do better after she gets out of them so hence that is why all the timeouts on the trip. At some point (it seemed like an eternity) she calmed down and our stop came up so fast that we almost missed getting off.
Well, that was the day. It seems that we will be making some more treks to CHOP in the future.
