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!

sputum culture final results and a bit of ranting

In case anyone has wondered, this is what Ricky's sputum culture results look like (you can click on the picture to see it bigger). He gets one of these done every time he is in clinic or in the hospital. They have a new policy of sending the final results to us in the mail, and so here is the one from this month.

I have never scanned one of these in before, but I guess this one is monumental in that it shows s. maltophilia and two strains of pseudomonas, along with the thrush (the candida) that he almost always has. He has had the s. maltophilia and the pseudomonas before, but never both at the same time, unless I'm wildly mistaken. He's actually doing pretty well at the moment, but this could be a portent of worsening lung health. We'll just have to stay on top of things and see how it goes. Prevention is the easiest way to prevent worsening lung disease, for sure.

And in that vein, it took me several days to get SOMEONE (CCS or HealthNet, the insurance we have through Healthy Families) to finally pay for his TOBI (along with his digestive enzymes -- which he needs to take in order to live, his Flonase, DuoNeb, and hypertonic saline) that I called in refills for on Tuesday. In the meantime he ran out of everything but the enzymes (though I at least had separate Atrovent and Albuterol leftover from before that I was able to use in place of the DuoNeb, which is probably the most important of the missing meds) and he was not able to start the TOBI for the first time in a couple of months. This time the bureaucratic stuff may have actually affected his health, and I am not too happy about it. The pharmacist actually spent most of the afternoon on Friday trying to get someone to do their job over at CCS, and it finally got resolved just before 5:00. If it hadn't, Ricky would have had to go the whole weekend without medication.

We have CCS in order to get medications, procedures, and doctor visits paid for that insurance doesn't cover. Instead of that happening, they appear to tie things up irretrievably in bureaucracy, and it drives me absolutely insane. When Ricky's mental health was similarly tied up in the summer of 2007, I actually wrote to the governor's office and the county supervisor's office, and those folks were only mildly helpful. In the end, it was my efforts and those of our particularly excellent county social worker that finally got things done for Ricky.

Okay, that's enough of that. Today we had Thanksgiving with our family at my mom's house, because Misty will be with Dave and his family in Oregon for actual Thanksgiving. It was a very nice Thanksgiving dinner and as usual it was great to be with our family. We also celebrated Ricky's 13th (!!!) birthday, even though it is not officially until Wednesday.

Ricky news

I will get back to reporting on our San Francisco trip tomorrow, but for now I wanted to give a couple of updates on Ricky.

Today I was actually home with Andrew, who was sick with a sore throat and cough (which hopefully the other two kids and I do not catch). I hated to miss work, but it was also nice to get a few things done around the house and run some errands.

In the afternoon as I was clipping coupons, I got a call from the nurse at the CF clinic. She said, "I'm calling you about Ricky's sputum culture results..." and I felt my heart drop. They never call unless it's bad news. I was envisioning the really bad bugs... cepacia, MRSA. But thank goodness, once I caught my breath, I found out that it was neither of those. The news is that he is still culturing the stenotrophomonas maltophilia that he grew the last time, and also that he's showing pseudomonas again. This is one he has had off and on since he was 2 (but went a number of years without culturing it). Now, however, he is culturing two strains. One of them is most prevalent, and there is a secondary strain that showed just a little spot. They are not mucoid. The good news is that all three of these bugs are sensitive to multiple drugs. The best one is Ciprofloxacin, but Ricky gets a nasty arthritic reaction to Cipro, so unfortunately we can't use it. The nurse called in a prescription for Septra (double strength -- that'll be fun for his intestines) and instructed me to put him back on the TOBI inhaled antibiotic, which I'd already called in a refill for since he was supposed to start it a while back. I'd put it off because of the constant change in insurance. After he has been off the TOBI for a week, we go back in for another sputum culture. Keeping our fingers crossed!

Later in the afternoon, when I was waiting for the boys at separate appointments at the same place, the endocrinologist finally called me back. I had called Tuesday late in the day and again this morning. Today I was told that they were not in today. Huh. I had asked the CF nurse to look at the numbers for me, and she told me that they were all within normal limits. I knew that wasn't usually the whole story so I waited to hear from the endocrinology fellow. When she called, she informed me that his thyroid levels are fine. His prolactin hormone level is fine (a high level could have meant a problem with the thyroid, I believe). His growth hormone and testosterone are on the low end of normal. This means he is definitely not in puberty. I told her I'd been unable to find the CD of the MRI images (which is making me nuts, believe me). She said they'd have no problem doing another MRI when he goes back in a few months if his levels are still not rising. She also said that they wait til boys turn 14 before they worry too much about puberty being late (that's a year from now). At that time they would consider testosterone therapy.

So, whew. That's a lot of news for one day. The good news is that he's not sick at the moment (at least not that we can see! the lungs are another story). He is doing okay in school (not the most spectacular report card last week, but he's trying harder now). And he's a happy, smart, fun kid. :)