Ella's endocrinologist appointment (just ignore the stained up shirt)

Ella had her endocrinologist appointment on Tuesday. I don't know if my expectations are too high, but I just don't think this doctor is going to really take Ella on. We are just another of his many "five minute visits". Here is what I want. I want a doctor who is good at communicating and explaining details, who acts like he cares and is very knowledgeable about ONH (also called SOD). I know this doctor is familiar with it, but just the fact that he didn't feel the need to do alot of the bloodwork that is related to the pituitary, makes me wonder how familiar he is with the disease.

He marked up a lab sheet to give to me and wasn't going to explain anything he was testing for-- I don't get that-- why not communicate to me what your testing for?? So, I asked what he was testing for. I noticed he didn't say anything about testing for growth hormone.

I asked, "Are you going to test for growth hormone?"

"No, she's too tall."

"She is? I thought she was only in the 15th percentile."

"Well, most kids with growth hormone problems aren't on the chart. And she seems really active (I guess he figured that from watching her walk for one minute??). Most kids with gh problems are pretty weak."

I think anybody who knows Ella knows that she is not a typical "active" two year old. She actually tires quite easily. But that's not the point.
The point is ONH/SOD kids are different.
There is a team of doctors in LA who are specializing in ONH/SOD. Here are a couple of things they have said. ONH kids can have......"life-threatening endocrine deficiencies regardless of presenting symptoms and neuroradiographic findings."

"Every ONH case should have endocrinologic evaluation and neuroradiographic imaging for associated abnormalities. A recent study published in the Journal of Pediatrics revealed that the high prevalence of endocrinopathies (72%) does not correlate with laterality of disease or neuroradiographic evidence of pituitary dysgenesis; thus it is important to examine each case with an assumption of high risk for hormonal dysfunction Endocrinologic evaluation, at a minimum, should include fasting morning cortisol and glucose levels, free T4 and TSH, and IGF-1 or IGF-BP3. Growth hormone deficit occurs in 64% of children with ONH, and may be an occult cause of hypoglycemia, even in the face of normal stature.

Ok- sorry for the medical journal talk- basically ONH kids should be tested whether they show typical signs of a problem or not....especially growth hormone. Believe me, I'd rather Ella not have a problem with any of these things, but I do want her tested for everything, so that I can know (and she is supposed to be tested yearly for the rest of her life.) Anyways, he did end up marking the growth hormone lab as well.

One thing this doctor did say was, that sometimes kids with ONH just struggle with obesity, whether related to hormones or not. I came home and googled it and there it was, "Children with ONH frequently have global developmental delay, autistic behaviors, obesity, short stature and life-threatening endocrine deficiencies." I have had the flu/bronchitis all week and have been very tired. I think reading this while not feeling good, brought me to tears. I cried, as I thought of little Ella having to struggle with this her whole life. I am hoping that it won't be the case for her. I guess I'll just wait for the lab results and go from there. I asked the doctor if he thought that I should restrict her calories if the labs come back normal. He said, "that may be a good idea." Every answer was kind of vague. I'm afraid that if they do come back normal, I will probably get a call from his M.A. and then be told to come back in three months.

I just did the bloodwork/urinalysis on Friday... so she should be getting the results by next Friday. I'll let you know.