UCSF

We rushed (driving within the speed limit, of course!) from Sacramento to San Francisco. Thankfully it was the middle of the day on a Tuesday and traffic was very light and we made great time. I even had time to feed Caden after we got there and before we had to go into the appointment. This is no easy task since meals with him are not fun anyway and even less so when we are not at home.

Since July we have been making the rounds of several doctors to try to figure out why Caden isn't growing. His weight is on the chart (barely, at just below the 3^rd percentile...). But his height hasn't been on the growth charts since he was born. He was “normal” size then, but after that he hasn't grown at a typical rate. I always attributed it to the fact that he had a tough start and he was just a little small. But the older he got the bigger the discrepancy between him and kids his age. It is to the point now where he appears to be about 18 months old (half his age!).

We started with an endocrinologist at UC Davis. She tested his growth hormone levels and his thyroid levels which both came back normal. However in her office, she indicated she thought he had many characteristics of Noonan Syndrome, which is the first time anyone has suggested this to me. She said she is unable to diagnosis it, but she successfully treats many children with this syndrome. So she referred us to genetics at UC Davis for further testing.

In August we saw the geneticist there and she agreed he had enough characteristics to warrant testing him for it. So she ordered the blood work for that. It took almost 10 weeks to get the results of that test which came back negative. However, we were told there was still up to 40% chance that he has it. Apparently it's not very accurate for testing negatives. But if it comes back positive, it is absolutely accurate.

Because of the high probability for a false negative, the geneticist at UC Davis referred us to the “guru” of Noonan Syndrome who works at UC San Francisco. I guess she has done incredible amounts of research on this syndrome (as well as some others) and the doctor at UC Davis thought she would be the best person to give Caden a “clinical” diagnosis. We were lucky enough to get an appointment with her right before we moved out of the state. This is how we ended up at UCSF on the 13^th.

The whole reason to go through all of this in order to get a clinical diagnosis is because if he does have Noonan Syndrome, it responds extremely well to growth hormone therapy. I want Caden to have as “normal” a life as possible and he has enough challenges to deal with that I don't want to add short stature to the list if I don't have to. He needs to have a diagnosis in order for the insurance company to authorize this expensive treatment.

Waiting to see the geneticist at UCSF

So we met with the doctor and one of the students working with her. They took a very thorough medical history of the family on both sides and asked a lot of questions. It was very in-depth. After all that, the doctor said she felt pretty confident in giving him a clinical diagnosis of Noonan Syndrome. The next step is starting treatment with an endocrinologist. But since we are moving, we have to wait until we find a new doctor in Washington to work with us. At least we're taking steps in the right direction.