Lucas Camilo

Yesterday we spent three hours at Children’s hospital with Lucas as part of our first visit to the Muscular Dystrophy Association or MDA clinic.  The organization made famous in part by the actor Jerry Lewis is the largest national funder of research and support for children with neuro-muscular diseases.  The clinic at Children’s involves different specialists, some of whom we already know, including Dr. Leschner who originally diagnosed Lucas with Myotubular Myopathy.  Our time at the clinic was really useful and Lucas actually seemed to enjoy it as well, smiling and showing off for some of the new doctors that he met.

First up was our old friend Dr. Leschner, who still endearingly refers to Lucas as a “little bugger” and who has followed his progress since February.  He seemed impressed with Lucas’s increased “anti-gravitational” movements, as well as his steady growth.  He listened to us talk about how things have gone over the last few months and offered a few thoughts about Lucas’s development that we’d mostly heard before.  He encouraged us to keep up the therapy sessions for Lucas, but also to know that many skills – from holding up his head to swallowing food – are things Lucas will just do when he’s physiologically ready.  Specifically, he said that it’s good to be giving Lucas tastes of new foods to keep him interested in having things in his mouth, but not to push too hard on swallowing.

Next up we met Dr. Morozova from Physical Medicine.  We liked her immediately, as we always like the doctors that start off by saying hi to Lucas and playing with him before jumping into clinical observations.  Some doctors walk into the room and go right past Lucas and immediately start flipping through his file or pulling up computer images of his ventricles as if that’s all there is to Lucas.  Of course, the thick file and the gobs of images and test results don’t begin to explain who Lucas is, so it’s reassuring to have a doctor ignore all that for at least a few moments and just hang out with Lucas.  Dr. Morozova was rewarded with big smiles and swinging arm movements and was clearly surprised at how well Lucas was doing, maybe in contrast to some of what she’d read in “the file.”

Since Lucas is growing out of his car seat and his whale bath we talked with her about getting a prescription for new equipment.  She reinforced a lot of what we’ve heard from Lucas’s physical and occupational therapists, and agreed that helping him into a sitting position for a number of hours a day would be beneficial to the development of his trunk and neck muscles.

Finally, we met with the team of genetic counselors about next steps following Lucas’s diagnoses.  Since Myotubular Myopathy is an x-linked genetic disease it’s most likely that Krista is a carrier of the MTM gene mutation.  So they recommended taking a blood sample from Krista to send off to the same lab in Chicago where Lucas’s blood was tested earlier this year.  Although we’ve assumed that Krista is a carrier of MTM, we’ve also been somewhat anxious to move forward with the blood test.  The results will have little impact on Lucas, but they will have a big influence on our decisions around Lucas having siblings one day.  The graphic on the right shows that a boy born to a mother carrier of an x-linked disease like MTM has a 50% chance of having the disease, while a girl has a 50% chance of being a carrier like her mom.  (Note that the graphic also appears to link y-chromosomes to short hair and 2 x-chromosomes to pigtails… Lucas is growing his hair as fast as possible so he can put it in pigtails and mess with such binary diagrams.)

We had done some reading on the genetics of MTM, but we learned more from the genetics counselors about possibilities, including the fact that there is a 10-20% chance that the blood test will come back negative, and that a negative result won’t totally rule out Krista being a carrier.  There are of course many more questions about the implications for our future, but Lucas has taught us that so much in this world is out of our control… and so waiting for the results of this test doesn’t feel unbearable.

Lucas was starting to get a little drowsy by this time but there was one thing left to do: head up to the lab for Krista’s blood draw.  The lobby of the lab was packed and as we waited we saw another family with a portable ventilator that looked just like the one Lucas uses.  We sidled up to them and pointed out the similarity, and pretty soon we were enjoying a great chat about vent settings, suctioning techniques, and the pains of home nursing.  It’s comforting to meet — in person, not just over the internet — another family struggling with the day-to-day challenges of taking care of a child with a tracheostomy, and there was an instant connection between the adults (Lucas and his cohort were fast asleep by this time).  It was a nice conclusion to a long but constructive morning at the hospital.