Lucas Camilo

Yesterday we got a call from Dr. Leshner, the neuromuscular doctor at Children’s, who confirmed that Lucas has Myotubular Myopathy.  The results had come back from the blood test, he said with a somber tone, and Lucas does indeed have the genetic mutation that causes MTM.  It was a strange moment: coming after a very positive visit to the hospital for some follow-up appointments, we were in good spirits and the news was not at all a surprise.  At first we thought to just go on with our day, but instead we picked up Lucas from his crib, hugged him together in a “Lucas sandwich”, and told him once again that we’re so happy to have him in the world, and thankful for who he is.

The day got off to a good start despite having to trudge back to Children’s less than 48 hours after being discharged from the PICU.  Lucas was in good spirits on his way to the doctor, seemingly oblivious to the fact that last time around he had ended up in the ER.  Perhaps he had reason to be upbeat – after all, how many babies get to visit a world-renowned neurosurgeon? (Most famously, Dr. Keating had separated twins conjoined at the lower spine in a extremely complicated surgery a few years back.)  After a long wait in the clinic we finally got to see Dr. Keating and he brought good news: Lucas’s hydrocephalus (excess fluid in the brain) appears to have subsided and he therefore will likely never need surgery to place a “shunt” in his brain.  Though the ventricles in his brain will remain large, they aren’t putting any pressure on the rest of his brain in any way that could cause damage.

After that appointment we rushed over to the occupational therapist but were too late to get in for a good session on the OT mat.  Still, we talked with Cathy for a while and as always she had some good insights, including some concern that Lucas might be putting on weight too fast.  Given his low muscle tone, she said, it’s not in his interest to be carrying around extra weight, and though he’s not exactly “chubby,” he has been piling on the pounds at a higher rate than expected.  Last week he officially passed the 15 pound mark!

Cathy suggested that we go up to the NICU to visit old friends and wow them with Lucas’s size.  Sure enough, the receptionists and nurses couldn’t believe their eyes when they saw the little man.  Indeed, he was about 7 and a half pounds when he left the NICU in mid-November, meaning that he’s doubled in size since them.  Lucas was fast asleep when we got up to the 6th floor but he soon woke up to say hi to some of his favorite NICU friends, and we spent a while catching up with people, including a parent who’s son has a trach and lived next door to Lucas for most of the fall.  Jackie, one of the receptionists, said that Lucas still gets mentioned at least once a week around the NICU… and they all marveled not just at how much bigger he is but that he’s also so much more alert and aware of his surroundings.