Lucas Camilo

We still haven’t heard any results about Lucas’s blood that was sent to the University of Chicago to test for the genetic mutation that causes Myotubular Myopathy (MTM).  However, since our meetings with Dr. Leshner we’ve been going about life as it were already confirmed that Lucas has the disease.  That might sound odd, since of course it’s not something we want, but our research so far has only reinforced the theory, and all the pieces seem to fit.  It will be weeks before we hear back on the genetics test, which means it will be weeks before we can actually ask Dr. Leshner about some of our specific questions about possibilities for Lucas’s future.  In the mean time we continue to do our own research and learning.

Researching your baby’s debilitating disease is not an easy thing.  At times we find stories of other children exceeding expectations in life that give us a lot of hope; at other moments we learn things that present really difficult possibilities for Lucas’s future.  Our goal so far has not been to find out every piece of information possible by throwing ourselves entirely into the world of MTM and muscle disease.  Rather, we’re still adjusting to Lucas’s diagnosis, holding in our hearts the many intense feelings that it brings, and adjusting our hopes for the future as we let go of some dreams and embrace new ones.  All the while, Lucas is growing and changing and we get to keep enjoying the everyday wonders of just being with him.

While we’re far from making any definitive conclusions, there are a few things we’re already learning from our research and from stories people have shared with us.  First, a diagnosis does not mean a definitive prognosis, since diseases like MTM manifest themselves in distinct ways with varying levels of severity.  Reading the about different young boys with MTM has reinforced that (you can check out the stories of Jack, Jacob, and Luke… among others.)  Lucas likely has the x-linked form of Myotubular Myopathy which is the most common and severe form, but still there is a lot of variation in how it manifests itself.  There are over a hundred different mutations of the gene that can cause MTM, and it seems that the type of mutation and where it is on the gene strand can impact the prognosis.

Second, though there are organizations and foundations funding research on Myotubular Myopathy and groups of doctors carrying out that research, the knowledge and technology related to genetic disease don’t seem to be at a place where a cure is likely anytime soon.  There do seem to be possibilities related to treatment and therapy that could be helpful for Lucas in the future.  The fact that we’re not hopeful for a “cure” any time soon means that we can be forthright about likelihood that this disease will affect Lucas for his whole life, which in turn helps us accept the challenges that lay ahead.

We’re also continuing to connect with new people, especially other parents of kids with disabilities, as well as communities of people who are living with life-altering physical differences and figuring out ways to embrace those differences.  So far we’ve just begun to tap into the amazing knowledge and support of other parents of children who have MTM.  We’ve found a couple different online support groups (this one is US-based and this one is in the UK), joined some list-serves and a facebook group, and connected with people through the tracheostomy.com website.   We’ve also learned about the first ever MTM family conference, which happened last year right before Lucas was born.  Perhaps most importantly, we’ve connected by email with some parents of children with MTM and we’ve excited about continuing to develop relationships with them.

And it’s not just families that have kids with MTM that have a lot to teach us.  A number of people have related stories about family members, friends or heroes who have dealt with muscle disease or other similar disabilities/different abilities, and that kind of support and solidarity has been incredibly helpful.  We really appreciate that people are thinking about Lucas’s disease right now, and we are grateful for all of you sharing stories, articles and introductions to new people and paths to explore.