Lucas Camilo

It’s been a long road for Lucas since his premature birth at 32 weeks.  In those early days of his life we never would have thought that we’d leave the hospital with our son after 3 months and still have no idea why he was born premature, what caused his early life-threatening challenges, or why his muscle tone remained so low.  We became fairly convinced that his problems – including the low muscle tone – were due to a brain injury and that there was a good chance his condition would continue to improve as he “recovered” from the injury.  After a while we stopped searching for a definitive diagnosis for his underlying condition because it seemed unlikely we’d find one, and besides, the possibilities were not things we were eager to discover about our baby.

But a few things happened leading up to Lucas’s admittance to Children’s two weeks ago – unrelated to the vomiting that landed him in the hospital – that had us ready to start pushing once again to find a diagnosis.  First, a parent of a child with muscular dystrophy found our blog and commented that our story was amazingly similar to their family’s story.  Then during our regular visit with Kathy, the occupational therapist who has seen Lucas since his early days in the NICU, she commented that his muscle tone really hadn’t improved that much (this was the day before his ER trip so in fact he was especially lethargic because of the low sodium).  She went on to say that she’d worked with other severely hypotonic kids before but never ones that hadn’t been diagnosed with some underlying disease.  It was that night as we sat holding Lucas’s hand, talking somberly, that we began to accept the likelihood that what Lucas was facing would be a lifelong challenge.

We had previously discarded the idea that Lucas had a muscle disease because the area’s foremost expert on neuromuscular disorders had seen Lucas (check out this post from late August), done a clinical examination, and concluded that his issues were more likely related to the central nervous system.  Whenever the neuromuscular possibility came up in the ensuing weeks and months someone would always point out that Dr. Leschner saw Lucas and said it wasn’t related to the muscles.. and that settled it.  We were also convinced, as we wrote in this post about hypotonia, that most muscle disease was degenerative and since Lucas appeared to be getting stronger – albeit slowly – he was therefore virtually disqualified from having such a disease.

With Lucas back in the hospital due to the low sodium level we encountered a geneticist who had observed Lucas early on, and she agreed that seeing Dr. Leschner again made sense.  She spoke to him and the next day he stopped by Lucas’s room.  As soon as he laid eyes on Lucas, Dr. Leschner seemed to know that he had a disease; he asked us a few questions and moved Lucas around a little, and then said “I don’t know who that Dr. Leschner guy is that saw this little fellow the first time, but I’m afraid he got it wrong.  From his appearance it’s very likely that Lucas has some sort of congenital myopathy.”  He explained that there were a couple possibilities – Nemoline Myopathy, Central Core Disease, and Myotubular Mylopathy.  He thought it most likely to be the latter, and began to list some of the classic signs of the disease: severe hypotonia; long body and fingers; large head and long, narrow face; high arched palate; trouble blinking and closing eyes all the way; and so on.  They all fit Lucas.

Dr. Leschner apologized for not having figured it out the first time he saw Lucas but we told him that weren’t upset about that.  In some ways we were happy to have had those months of not knowing.  When he left the room we hugged each other and cried and held Lucas’s hands, telling him that naming his disease didn’t change how much we loved him.  Later that day the snow began and we were stuck in the hospital for the next three days, unable to leave but for some short walks around the block in the piles of snow outside.  During that time we did some of our own research, met again with Dr. Leschner, and spent a lot of time talking and thinking about what this meant for our lives.  As it turns out, the timing of Dr. Leschner’s second encounter with Lucas was pretty good: by the time he was ready to make a diagnosis, we were ready to accept it, and to grapple with what it meant for Lucas’s future.  A lot of you have been surprised to observe how well we appear to be handling this new information about Lucas, and frankly it’s a bit hard to explain.  All we can say is that despite knowing the many difficulties that lay ahead for Lucas and for us as a family, we still feel extremely lucky to spend each day with him.