Lucas Camilo

Over the past few weeks we’ve read about some positive developments related to new research on Myotubular Myopathy (MTM), the disease that Lucas was diagnosed with just over a year ago.  A professor at the University of Michigan named James Dowling received a $350,000 grant to study a potential treatment for people with MTM.  Dowling is studying the “neuromuscular junction” – the meeting point of nerve cells and muscle fibers – in mice models of MTM, and says in an article, “We believe the results of this study, funded by the [Muscular Dystrophy Association], will lead to the first therapy for MTM.”

Meanwhile, a French doctor name Jocelyn Laporte has been researching MTM with a similar grant.  The UK-based “Information Point” website has good information about Laporte’s research, which has the goal of identifying the genetic basis of MTM, understanding the disease mechanisms; and studying the pathology and test therapeutic approaches in model systems.

Closer to home is the Begg’s lab in Boston, probably the leader in MTM research.  We talked last year about making a trip north at some point so that Lucas can participate in the research there, and it certainly would be a good learning experience for us as well.  Reading the latest news as well as the comment from Professor Dowling has us thinking again about a trip to the Beggs lab, and makes us cautiously optimistic that a treatment to help mitigate the effects of MTM could be developed during Lucas’s lifetime.

In general, we’re interested in learning about and potentially participating in studies, but at this point we remain more focused on doing all we can to make life good for Lucas within the limitations of his disability.  Which is why we’ve gotten even more excited about connecting with people around issues of disability rights.

Yesterday we had a great brunch with a group of folks who are passionate about disability justice, people who have disabilities themselves and/or family members with disabilities.  It was really nice to reflect on some of the issues we face and learn from others who have more experience than us. And, it was just fun to hang out and eat good food.  You can see the extensive list of disability themed books that folks at the brunch contributed to and sent to the local progressive bookstore Busboys and Poets.

Finally, while we’re on the subject we wanted to pass on an action to take in support of people with disabilities.  Some friends we met through the internet – who have an amazing child with similar challenges to Lucas – posted this to their site.   Lucas uses  complex rehab technology (his manual wheelchair/adaptive seating system) and will continue to need it for many years to come.  We hope others can participate in this action on Wednesday!

February 16 – National Call-in Day for Complex Rehab Technology

Help assure access for individuals with disabilities to the Complex Rehabilitation Technology they require!
• Mark the date to call your Members of Congress on February 16th.
• Tell Congress you support a Separate Benefit Category for Complex Rehab Technology (CRT) under Medicare.
• Tell Congress to eliminate Medicare’s “In the Home” restriction for CRT products.
• Encourage your friends and family to call too.
Join with thousands and register for the effort at www.CELAadvocacy.org to receive an information packet. Learn more at the ITEM coalition.

Complex Rehab Technology (CRT) products are defined as medically necessary, individually configured devices that require evaluation, configuration, fitting, adjustment or programming. Examples of CRT include individually configured manual wheelchair systems, power wheelchair systems, adaptive seating systems, alternative positioning systems and other mobility devices. These products and services are designed to meet the specific and unique medical, physical, and functional needs of an individual with a primary diagnosis resulting from a congenital disorder, progressive or degenerative neuromuscular disease, or from certain types of injury or trauma.

For the past couple weeks we’ve been wanting to share the most recent news from the MTM community, but we warn that it’s sad news.

Joshua Frase, a 15 year old with Myotubular Myopathy, passed away on December 24.  Joshua was one of the best known kids with MTM because his parents were very involved in raising money and awareness about the disease.  They started the Joshua Frase Foundation in 1996 and have raised millions of dollars for research that they hoped would lead to a cure for MTM within Joshua’s lifetime.

You can read some articles about Joshua and the Frase family here and here.  We haven’t ever met them, but Joshua sounds like an amazing kid.  He was a great student and was extremely motivated.  He got straight A’s despite not being able to sit up in school for the past few years.

We’ve been sad for the Frase family, thinking about them often through the holidays.  But maybe more significantly to us, Joshua’s passing is also a hard reminder about our lives.  Another remarkable thing about Joshua is that he lived as long as he did.  At this point, fifteen years is a long time for a person with MTM.

We don’t often talk about this fact – Lucas’s short life expectancy – because ultimately we want to hold out hope, and because we don’t have any concrete statistics about kids living with MTM.  One of the articles, for example, says that according to medical literature, 90 % of kids with MTM die before their first birthday, but then it goes on to refute that claim.  The truth is that we haven’t heard about any people with x-linked Myotubular Myopathy  – the most severe form of the disease that affected Joshua and now Lucas – living into adulthood, though this is most likely because only in the past decade or so has the technology been available to help kids with MTM survive through their early years.  We have been in contact with other MTM families who have boys aged 9 or 10 who appear to be thriving within the limitations imposed by the disease.  We want to hold onto the possibility that within Lucas’s lifetime there might be major medical advances, and that Lucas is unique and strong and will defy the odds.

At the same time, knowing that the life expectancy for kids with this disease is short reminds us that the time we have with Lucas could be much shorter than most parents count on having with their children.  There are no words to describe how painful that is.  To love a baby so deeply – to keep falling in love with him more and more and more – and at the same time know that the odds say that he won’t live more than 10 or 15 years.  It’s horrible.

There are moments that it feels OK to be so acutely aware of mortality.  Ultimately none of us have a guarantee that we’ll wake up tomorrow, or live 10 or 15 more years.  So we let Joshua’s death remind us to treasure and take advantage of the time we have together, however long it may be.  And we really mean this, not just as a cliché, but in practice.  On the days that we start to feel lost  – worrying about what it means to be a stay-at-home mom, or when we’ll ever move to the Northwest, or how we’ll get health insurance, or if we’re doing our best to build social justice movements – it’s powerful to remember to stay present with each other and the people around us rather than getting totally sucked into concerns about the future.  Of course we can’t help but worry about what’s to come, too.  But ultimately Lucas helps us keep things in perspective.  Having dinner together tonight is important.  Lucas getting immense pleasure from chewing on frozen peaches and singing the nanana song is important.  Learning the word “nose” is an accomplishment deserving major celebration.

Most of the time this awareness of mortality is deep in the background of our lives, and we just treat Lucas like Lucas, the fabulous kid that he is.  With the passing of Joshua Frase it’s on our minds, so for now we felt the need to share these thoughts while also acknowledging the extraordinary life of Joshua and many other kids with MTM that have come before Lucas.