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 3rd
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 13th.
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.
