NIH visit Day 2

Well today was much busier and longer than yesterday. We were at the clinical center from 7:30 am to 5:30 pm. We started off the day with a routine blood sugar check, blood draw and then breakfast for Caleb. He had neuropsych testing for the first half of the day which was pretty exhausting for Caleb and hard for us to watch. They tested him on a lot of different concepts....of course it's a standardized test and so they can only ask things one way. Caleb not only had to think of the answer but also had to work hard to make his mouth and tongue work. For most people talking isn't such an effort, we move our mouth, lips, and tongue without thinking about it. Anyway, we will find out the results later in the week. The assessment will be great to have for when Caleb starts school in the Fall.

We found out today that some of Caleb's labs came back abnormal. We were told that his red blood cells were larger than normal......which could mean a type of anemia and that his Eosinophils were very high. They're thinking that the high eosinophils might be in his stomach and intestines. I guess he'll need a scope with biopsy to rule that out. Either one could be the reason he's so low energy. The good news is that they are both treatable. We were also told that at some point during his stay they will do a skin biopsy. I think it sounds more painful than it truly is....I hope that's the case anyway!

The latter half of the day was spent in the opthamology clinic. His eyes look good except that his vision really is 20/100 and he does need to wear his glasses! They dilated his eyes and the doctor thought that possibly the nerves in his eyes a little more " curly-Q" then they should be at his age. He said it's "probably normal" but since he's in the undiagnosed diseases program they like to be sure and not "probably" sure. So they took pictures of the back of his eyes with a special camera and they will be reviewed in more detail.

The most interesting thing we heard today was that the doctors are actually thinking that what is going on with him is not a sydrome. Very surprising to me since I always thought that Caleb probably had an unknown syndrome of some type. So, we'll see. I'll have more questions about that tomorrow.

We also met Dr. Gahl today. He is the man who spearheaded the Undiagnosed diseases program. We told him that we were so very thankful that Caleb was chosen to participate and he reminded us that they only pick " the toughest cases."

Caleb was such a trooper today! He was so tired by the end of the day but he did fabulous!