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.