Lucas Camilo

(Krista writing)  I spent last weekend in a hotel outside Minneapolis for the second ever MTM-CNM Family Conference (that’s myotubular myopathy, the disease that Lucas has, and centronuclear myopathy, a slightly larger umbrella of genetic neuromuscular diseases).  It was amazing to meet so many people who have lived through what we’ve been through.  I was nervous about going – what will I talk about with all these strangers?!? – but it turns out having MTM in common is enough to keep conversation going for hours.   There were about 50 people in attendance including researchers, kids, adults, parents, aunts, uncles, grandparents, and friends.

One real highlight was the talent show on Saturday night.  There were kids in wheelchairs and walking in a parade of homemade hats; a whole family performing a rock ballad with pasted-on-mustaches; a 10 year old who lost his brother to CNM performing magic tricks; and a full standup comedy routine with vent and wheelchair jokes.  Jacob, a 22-year old who uses a trach and vent, showed off his pick-up lines for the ladies.  He called one of the moms up to stage and asked her to disconnect his ventilator tubing.  She hesitated, he insisted, and so she did.  He smiled and leaned into the mic. “You take my breath my away.”

And it was good to laugh, especially with families of older kids who have walked this path longer than us, and even with families who have lost their kids.  It’s good to know that even as some things get harder – like picking boys up and dancing around the room – families are still finding all the joy that we have while living with Lucas’s MTM.

A lot of the official portion of the conference was dedicated to discussing research.  There were researchers from the three main labs in the U.S. talking about where things are at and how close we are to having drugs to trial.  Dr. Alan Beggs and Elizabeth were there from Boston and presented a lot of what they had told us when we visited them last month.  Dr. Jim Dowling was there from the University of Michigan, where they’re working to pull together a mass census (or “natural history study”) of MTM and CNM, looking at how the diseases presents in as many kids as they can find, and then following them over five years to see how it progresses.   There are still many, many things doctors don’t know about symptoms Lucas has that may or may not be associated with MTM, so having this survey compiled and published will be very helpful.

The other exciting news from the UM lab is that they’re testing a drug called mestinon on zebra fish with MTM.  Mestinon is already on the market, prescribed to people with another form of muscle disease.  The drug is clearly having an impact on the MTM fish, so they’re hoping to get approval soon for an FDA trial of mestinon in MTM kids.  There are at least a couple kids with MTM who have already been taking it, and while it hasn’t gotten them up out of their chairs, their families think it may be helping them.

The biggest news was from Dr. Childers who is working with dogs who have MTM at Wake Forest.  They’ve recently tested gene therapy on the dogs by injecting a virus carrying myotubularin (a good version of the defective or missing protein) into the dogs’ hind legs, and so far the results have been amazing.  They’ve compared one hind leg with the injection to the other without, and then compared them to the dogs that don’t have MTM.  The graphs showing the change in muscle strength took my breath away – the legs that got the injection were nearly at the same level as healthy dogs.  The research is just getting started, so they’ll probably have to repeat the results many more times over the course of the next 2 years and show the dogs don’t have an immune response, but these initial results are really exciting.

(As a side note, I have to say that I have really complicated feelings about animal testing.  But I am thrilled that the research is moving forward and grateful to all the animals who are contributing to what may be a treatment or cure for MTM and CNM one day.)

Besides the formal presentations, there was tons of just talking about our kids.  I learned that being picky and at the same time extremely good-natured is a common trait of kids with MTM.  Javad, a wonderful nine year-old from Oregon, used his speech device to demand that his mom make everyone stop clapping at the welcome dinner.  (She didn’t.)  We hung out afterward, and Javad held my hand for a long time while we played and talked.  His soft, gentle grip felt just like Lucas’s – except bigger – and I felt extremely happy and lucky.  Javad studied every picture I showed him of Lucas, flipping through the album of Lucas pictures twice.

I asked for advice on various things and people were generous with their stories.  I learned that a lot of kids started using power wheelchairs at Lucas’s age, and people explained their chairs, vans and lifts.  Jacob, who’s used a power chair since he was little, warned me to watch my legs and get ready to start patching walls once we put Lucas in a power chair.  Over meals I talked with parents I’d just met about topics as varied as constipation (Lucas’s), family planning, vent settings, how to talk with kids about disability, suction machines, nursing, insurance, allergies, anesthesia, health reform, and even death.

The conference was organized by four moms, and it was an amazingly well-planned event.  Other highlights of the weekend included a whole “kids track,” with older siblings leading games and activities for younger kids all weekend long.  Organizers created a slide show, collected videos, and printed up a directory with family pictures and stories.  They had all the most important MTM/CNM researchers in the country at the event, and somehow they were all incredibly wonderful people who stuck around for the fun and bonding and grieving as much as the science. They picked a hotel that was really wheelchair and public transit accessible.  And they made sure the hotel had a lounge/bar space where we could all hang out at night.  By Saturday night – long after the talent show was over and the kids had gone to bed – we managed to get rowdy enough that people on the eighth floor of the hotel called down to the bar to complain.

Although it would have been great to be there with Burke and Lucas, I think Lucas would agree that we made a good decision not to take him – he would have been right there with Javad, giving a big “all done” sign to the clapping and non-stop chatting.  The next conference will probably be in two years, though there was talk of a west-coast gathering next year.  It’s hard to imagine, but if the stars align, we’ll probably be on that coast by then.  With Lucas in a power chair.