Lucas Camilo

Last week we got tickets to fly to Minneapolis in July for the MTM family conference.  You may recall that Krista went to the 2nd conference in July of 2011 (the first ever MTM family conference took place right around the time that Lucas was born).  Back in 2011 we weren’t feeling ready to get Lucas on a plane, but after our easier-than-expected journey across the country last year, we figured flying to the Twin Cities would be a piece of cake!

Actually, given that Lucas has since grown out of his car seat the flight promises to be a little more challenging this time around, though shorter.  The hardest part, perhaps, is getting all his equipment registered with the airline, passed through TSA, and on the plane.  At any rate, we still have two months to prepare so for now we’re just excited about the opportunity to meet more families in person (many of whom we already know through Facebook groups or email), share stories and strategies, and learn more about the research related to MTM.

(Side note: Lucas has been doing great since our last post a few weeks ago – enjoying more baseball, walks in the park, spring flower identification, and spending more time in his stander – check out the picture at right where he’s rocking some colorful hand-me-downs from his cousins.)

As has been expressed in previous blog posts, we’ve been somewhat ambivalent about research into muscle disease generally and myotubular myopathy in particular.  For us, helping make life good for Lucas in the present – which includes therapy, lots of creativity, and advocacy for increased access and better policies geared towards people with disabilities – has been the top priority.  This is based in part on our overall politics related to disability but also on an understanding that the chance of new research leading to a viable treatment for MTM during Lucas’s lifetime has been relatively slim.

However, as we will learn more about at the conference in July, significant progress towards treating MTM has been made in the last year, perhaps increasing the likelihood that Lucas and other kids with MTM that we’ve gotten to know could soon benefit from the advances.  We’ll go into more detail in a subsequent post, but for now here are a few area of progress and links if you want to learn more:

• (update – here’s a good two-part article that talks about both areas of research).
• A study published earlier this year showed success in tests injecting the myotubularin protein into mice.  You may recall that Lucas’s genetic disease results in the absence of a protein – called myotubularin – which is very important to muscle tissue and muscle fibers.  The fact that researches have found a way to introduce this protein into another animal, and that it had a positive effect on muscle strength, is a big step forward.
• Perhaps even more exciting – at least in so far as it’s happening right down the street from us – are studies of gene therapy for MTM.  A doctor named Martin Childers, who we visited along with Lucas last year, is leading the research at the University of Washington here in Seattle.  Gene therapy involves injecting the myotubularin gene, instead of the protein, and the research is being done using dogs who have MTM.  The tests so far have been very successful leading to optimistic predictions of human trials starting by 2015.  You can read more about gene therapy and Dr. Childers research here.
• Finally, if you want to learn more about the family conference itself and perhaps make a donation that will allow more families to participate, you can go here.

We promise to report more as the conference nears, and to get back to some actual updates about exciting goings-on with Lucas soon too!