Bryce’s Update

Hi everyone,
Just thought I’d give a little update on Bryce – okay, I doubt it will anything but little. After four months, we finally got a call back from the geneticist. She confirmed that Bryce has a genetic disorder called Kabuki Syndrome. This sydrome encompasses Bryce’s heart defect, his cleft palate, ptosis, skin tag, his slow development, his low muscle tone, his eating problems, the reflux & even his poke-out ears (We wondered where those came from ). It’s nice to finally have an answer. The good news is, we were told that it’s not likely we’ll have another child with Kabuki Syndrome, so that was a relief.

The geneticist was so nice, and asked lots of questions about Bryce, then answered all of my questions. I told her about his ptosis and the need of surgery for it now. She strongly suggested that we have him seen by the opthamologist at the children’s hospital before we proceed with surgery. We’ve been seeing a pediatric opthamologist, but he’s not from the hospital. She said it’s such a specialized field that we want to make sure he’s seen by the best. I felt better about him having surgery at the children’s hospital anyway.

I also had a bit of a scare recently. We took Bryce in for his monthly follow-up with the GI doctor a couple of weeks ago. While we were there, the GI nurse noticed Bryce tilting his head (she called it lilting), putting ear to shoulder. She called me the next day and asked me if I had noticed him doing this. I hadn’t, so she asked me to keep an eye on him and see if I noticed it. She told me that worse case, it could be a sign of a tumor! She said the ptosis and vomiting can also be signs of a tumor, so we need to careful. The next few days Josh and I noticed Bryce tilting his head –ear to shoulder on the left side several times, so I called the GI nurse back and left a message. Meanwhile, I e-mailed our regular doctor, and I mentioned it to the geneticist when she called. They both sounded doubtful that it was a tumor. A few (long) days later, the GI nurse called back and told us to have Bryce’s ears checked and if they were clear to go ahead and have an MRI. So we took Bryce in to have his ears checked, and he DID have an ear infection! He’d been fussy, but we had though it was teething. I think his ear just never totally cleared up from the infection he had last month. Anyway, he’s on antibiotics now, so I’m going to keep an eye on him once it clears up and see if I notice the head tilt anymore. I really don’t feel like it’s a tumor. I do want to be careful about it though.

Bryce is also cutting four molars!!!! So this has been a real fun week for us.

Let’s see. Bryce has been working with an occupational/feeding therapist and a nurse from EI, and he just recently added in PT. He’s quite behind developmentally, but he is progressing, so that’s good. He can sit up really well and can be on hands and knees, but has yet learned to trasition between everything yet, and still cannot crawl. The PT says he’s really strong though, & close to crawling. Last week he was evaluated by a speech therapist and qualified for speech therapy too. He was at about a 9 month level speech wise.

The reflux has not improved. He still spits up a lot every day despite the Erythromycin. It helps enough that he can gain weight well though. Bryce is still mostly tube fed. He’s taking 30 cal breastmilk now, since he turned one. He’ll take about 1 to 2 oz by spoon is all. Recently we started trying a sippy cup and finall found one he likes. He doesn’t suck at all, so he needed one that will let the milk out with biting only, but doesn’t come out too fast. We also offer solids every day. He takes a few small bites before gagging & spitting up (and sometimes we even avoid that!). The only thing is, he doesn’t want ME to feed him, so I have to let him put the spoon in his mouth himself. Problem is, he doesn’t quite have the dexterity to do it very well yet. He likes munching on teething biscuits, which is a plus, as long as he doesn’t get a little crumb off that he gags on.

So I’m still pumping away. I actually started decreasing my pumping because we have a freezer full of milk, but I got a call a few days ago from a woman in our church who’s daughter is losing her milk supply, and her baby can’t tolerate formula (I didn’t get the whole story). Anyway, I’m now trying to increase my supply back up and have been donating breastmilk to this little baby (who is also a gerdling). I gave the grandma this website, but I don’t know if she gave it to her daughter. Sorry that was off subject..

And last, Bryce supposedly had a slight hearing loss when we tested him when he was a newborn. They were unsure if it was related to ear fluid, and wanted to have him re-tested in a year after his cleft palate was fixed, etc. So we have this appointment on Monday to re-test.

Phew! Thanks to anyone who made it through that novel! It felt good to write it all out though. My head has been spinning with everything these past couple weeks.

Bryce’sMom2007-2-3 16:46:54