Another diagnosis? And an update.

We had an appointment in the Genetics clinic a earlier this week. I've been mulling things over for a while now, unsure of how to post what we learned.

For a long time some of Ricky's other doctors and I have been wondering if there might be something else going on with him... Some other genetic disorder. You may have seen me post about this here before. Among other things, he has these signs of "something else":

-hyperflexible joints
-high, narrow palate
-heterotopias (undeveloped gray matter) in the brain
-soft, thin skin
-thin veins
-issues with teeth
-issues with vision

We saw the geneticist back in 2006 and were supposed to go back a year later. Unfortunately, with Misty being born, time slipped by and I just finally got him another appointment. This time around, the geneticist did a lot of diagnostics, including examining Ricky's fingers and toes, measuring his eyes, his armspan, etc.

Finally, the geneticist and genetic counselor explained what they planned to do. First of all, blood was drawn for a full chromosome analysis. They did this when we were there in 2006, but as time goes on there end up being more and more genes identified. As the geneticist says, "In genetics, time is on our side." My blood was also taken as a control for this test. Secondly, he had blood drawn for another test that is for one of the connective tissue disorders that relates to the heterotopias -- it's more common in females . One of these tests will take 6 weeks (done at Stanford) and the other one will take 8 weeks (sent to Boston). If they are both negative, he will then have testing for Ehlers-Danlos Syndrome. Based on what I see on that page... Well, it really sounds like Ricky.

Here's something else I learned: When Ricky had his EKG (heart ultrasound) in April of last year, when he was in the hospital for his CF and was also having his dizziness investigated, the result was a finding of an enlarged aorta. Now, that would have been a useful thing to know, wouldn't it? I was pretty upset to find this out in via an offhand remark by the geneticist! The genetic counselor subsequently emailed Ricky's pulmonologist, who out of all of the specialists basically manages his care, to ask about a visit to a cardiologist. The pulmonologist agreed that Ricky should see a cardiologist to find out if there is really a problem. (Heart issues are also common in some connective tissue disorders.) So we are waiting for a call on that.

I have mixed feelings. If Ricky does have Ehlers-Danlos or some other connective tissue disorder, it would be good to know. It would be nice to have some answers. On the other hand -- jeez, how much does one kid have to deal with!?

In CF news, today I got a call back from the CF nurse in regard to Ricky's visit last week. His DEXA (bone density) test was normal (yay). His sputum culture showed pseudomonas aeruginosa and stenotrophamonas maltophilia, both bugs he has had before, though the second one is fairly new. We'll start up his TOBI (inhaled antibiotic) tomorrow.

The rest of us are doing okay... Misty apparently wants some health attention of her own (well, okay, I know she doesn't WANT it) and has a virus that's made her wheezy and miserable. She was seen by her pediatrician this week and her chest x-rays were a bit iffy for pneumonia. So we are monitoring things. It's probably just a virus and hopefully she improves soon. She has been having breathing treatments regularly. The coughing spells are pretty brutal on her. :(

Guess that is it for now!