I feel like we don’t have much to update! That’s a good thing!!
– Teddy’s, um, crazy busy, even for a two year old. He’s like… a 2 year old on steroids, except our hospital follows a steriod-free protocol. Thank God, because I don’t think I could handle him on Prednisone. He’s just like a tornado. And I know you’re saying, oh, all toddlers are like that. No, other moms of toddlers, other moms of multiple toddlers, other moms with 5 and more kids, have all basically chuckled at Teddy and said something like, “wow. He’s crazy busy.” He also doesn’t sleep at night. I blame the feeding pump for part of that, and his metabolism for the other part.
– We’re waiting to hear back from Genetics. Long story short, I thought Genetics was doing things they weren’t doing (mainly because they said they’d do them, and then didn’t). Then in June, we went back to see them and to make it clear that we did want to proceed with the remaining test they hadn’t done. When I walked out of their office, the plan was: get approval from insurance, draw labs the next time we were in Iowa City a few weeks after that appt, then someone would call me to let me know how long the test would take, and then someone would call me with results. So when we were in IA City again, nobody had put in the lab reqs for the genetics testing. Sigh. Eventually someone brought it down, and then 6 weeks later I still hadn’t heard anything, so I started calling. I got voicemail. I left my cell phone number. They called back and left a message on my home number saying that *they hadn’t yet done anything with his sample.* Then started a series of phone calls featuring Me Being Very Irate. The doctor himself returned my phone calls and we exchanged some words. He claimed there were no labs in the US that could do the test we wanted, so we’d have to send DNA from our whole family to this guy in Canada at a research lab and it would be 2-3 years, but we’d finally have an answer as to what is causing the interesting liver symptoms. Considering that I had previously expressed my desire to do ONLY the one test (for lafora, because both of his liver biopsies have come back suggesting lafora) and not go digging into his or anyone else’s DNA, I was a little appalled at this suggestion and decided to move his care to Omaha. They actually discussed options with me on the phone, and that conversation helped me find 2-3 labs in the US that could run the test for lafora, which I passed along to our doctor at UI, along with expressing my disbelief that I could find this with Google and he could not. Sigh. So… the DNA was sent off to the lab 4 weeks ago and we should have an answer in another 2 weeks.
Every time someone asks me how he’s doing, I say he’s doing great, but inside I’m really stressing about these results. 🙂
– That said – he’s doing great. Labs continue to be acceptable (NOT great. kidney function is great, everything else kind of flops around close to great).
– He’s started feeding therapy. I’ll update on that a bit later. 🙂