The MDA summer camp my sons Matthew and Patrick have attended for several years has changed its format cutting the length of stay in half to accommodate those on a small waiting list. To be clear, this decision was made by the organization that operates the camp, not the MDA. My wife and I discussed the challenges of packing the boys' clothing, lift, Bi-Pap, Cough Assist and battery chargers for just four full days of camp. We then talked to Matthew and Patrick who agreed a two plus hour ride one way, relying on councilors to roll Matthew over at night and properly maintain his Bi-Pap and being careful about lifting them both was a bit too much to put up with for such a short stay. What used to be eleven days at camp, adjusting to new people caring for them and lots of fun for our sons while at the same time providing some respite for us was not to be. Fortunately very good friends of my family let us use their camp on a small lake in central Maine for a week. Sometimes you meet people who just understand. This family has always tried to do things to include Matthew and Patrick and sometimes give Alice and I an evening out together. This time they thought a quiet week as a family would be nice. It was in fact excellent...
So how does a family with two boys who have DMD spend a week at camp? Like any other family, yet it takes a little more planning...and a sense of humor! Patrick went swimming, we read to our hearts content while sitting in the sun, went out for dinner and I took the boys out in a two person kayak a couple of times. Matthew has little upper body strength, so I had to rig up a board padded with a thick towel to the kayak seat and used a Velcro strap to keep him upright. Of course life jackets are a must. The lake was very quiet, yet an occasional boat's wake would rock the kayak although never enough to give us any concern. Patrick finished the forth Harry Potter book (Probably his fourth time reading it.) and Matthew is reading the Civil War book "Killer Angels". Alice finished two books and did several crossword puzzles and I read a book about the hurricane of 1938. There was no TV! In the mornings I got up early and rode my bike or went running and in the evening we played cards and just talked. Patrick chose to sleep in the enclosed front porch by himself. The next to last night he called me in because a bat was hanging from the ceiling. I chased it away with a broom, but we decided the last night he could sleep in the cottage and avoid another encounter!
We also took a couple of day trips. We went to Mount Desert Island twice. The first trip we took a detour and visited Fort Knox which was built during the mid-1800s. This fort was built to protect Bangor, Maine and not to warehouse gold. Another attraction is the new Penobscot Narrows Bridge which has a 420 foot observation tower as part of the structure. The observation area is accessible by a very fast elevator to the first floor of observation deck, yet to get to the glassed in third floor there is a very slow vertical platform lift. It was worth the ride. The views of Bucksport village, the Penobscot River and Bay and surrounding mountains and countryside are breathtaking. We next visitied the Bar Harbor Area for lunch and drove around to see the massive ocean side mansions which are summer homes for people like Martha Stewart. From there we had dinner with Amanda Becker, who has a son with DMD, and her parents and her sister in Castine. Her parents have a wonderful summer cottage on Penobscot Bay and it was a nice evening of good food, conversation and watching the children together. The second day to Mount Desert Island was a trip most families probably wouldn't consider. My family and I visited the Jackson Laboratory, a research center in Bar Harbor.
At the last minute, just before our vacation started, I e-mailed the Lab to learn if there were tours as I knew they develop murine (mouse) models for many diseases and disorders including DMD. The Lab produces the MDX Mouse and other genetically engineered models used in DMD research and ships mice world wide while also doing much research on site. A woman from the communications department replied to my e-mail explaining the official tours were full due to summer interns and a visit by members of the press, but they could provide a short tour late in the week. I exchanged several additional e-mails and made plans to visit the Lab and was told a researcher may be available to meet with us as well.
On Friday we again drove to Bar Harbor and met Amanda Becker and her father, John Bishop, for a tour of the Jackson Lab. After getting badges at security we met two women from the communications department who walked us through the facility and talked to us about the Lab's history, the numbers of mice bred each year (2 million) and different strains produced (about 2,700) including a new model that has a human immune system. We were told how mice embryos and more recently mice sperm are frozen to maintain standards for research and to ensure the availability of models for future use. The Lab is housed in a large building that has grown for need and as funds allowed. There are no separate departments eliminating competition for funding and scientists are encouraged to collaborate all reporting to one director.
As part of the tour, arrangements had been made for us to meet Gregory Cox, PhD who was a graduate student under Jeff Chamberlain, PhD before Dr. Chamberlain moved to Seattle from the University of Michigan. Dr. Cox also invited research scientist Keith Seburn, PhD and graduate student Kimberly Huebsch, PhD to meet with us. I only expected a cursory tour of his research lab and a few moments of his time, but to my surprise Dr. Cox and his colleagues spoke with us for over two hours. Amanda and I asked many questions about how research is conducted, potentials for new therapies for DMD and many other questions about opportunities in the research field and funding. Dr Cox and Dr Seburn answered our questions thoroughly. It was nice being taken seriously and I believe having attended many PPMD Annual Conferences prepared us for our meeting at the Lab. Dr Cox told us how he hoped genetic modifiers would be found to slow the progression and improve therapies for DMD. He showed much optimism for Exon Skipping, Gene Therapy and talked about the upregulation of Utrophin, Myostatin and IGF1 as excellent avenues for DMD therapy. Dr Cox said due to the disparity in progression of DMD even for those with identical mutations including siblings, much still needs to be learned and we talked about the fact that although much is understood about the pathology of DMD, there remains a lot that needs to be learned. We discussed how patient and family advocacy was changing the research climate for DMD. Dr Cox said groups like PPMD were having a very positive effect on research and families need to keep up the pressure for increased federal funding for research.
Dr Seburn described his work analyzing muscle and the different tools used to enhance the progression of DMD in mice making the MDX a good model when properly exercised. Both he and Dr Cox agreed that the scale between humans and mice accounts for the MDX mouse being less severely affected. The mouse weighs a fraction of what any child does and this places much less stress on his muscles. They currently use downhill treadmills to exercise the mice more accurately replicating muscle deterioration seen in boys with DMD. We were told the mice also must be "stressed" to duplicate similar cardiac symptoms. Dr Cox told us the MDX mice have a typical heart rate of 600 BPM and still see less involvement unless conditions are modified. Dr Sebrun said that due to the short life span for mice much can be learned with this model and the lab has other "Knock Out" models they study.
Unfortunately Dr Huebsch didn't have many opportunities to speak. The questions and commentary flowed quickly and lucidly, yet except to discuss attracting new researchers into the muscle biology field and NIH funding, Dr Huebsch allowed Dr Cox and Dr Seburn to do most of the talking. One area she is working on is the effect of myostatin blockage in another form of muscular dystrophy. This has direct application to DMD and I would have liked to have heard about her work, yet as things worked out we missed learning more.
After our marathon conversation Dr Cox took us to visit his lab. He introduced us to Roger Sher, PhD, another researcher who was reviewing an image of a recently discovered form of muscular dystrophy. Dr Cox explained they often find mice with unusual spontaneous mutations called deviants. There job is to find out what causes the disorder and then search for similar human cases. For the disorder Dr Sher was working with, Dr Cox had recently found patients in Japan and he said he would learn as much about the mice from the patients and vise versa. Dr Sher was isolating muscle satellite cells and using specific DNA samples to act with the cells to determine when the damage began and showed us how they highlighted the affected cells with a chemical that makes jellyfish luminous similar to the luciferous from fireflies used in high throughput screenings for small molecules to use as drugs for DMD. We also visited Dr Seburn's lab and were shown the equipment he uses to study individual mouse muscles both in vivo and isolated samples from harvested mice. They are able to test single fibers and whole muscle groups as needed.
After thanking Dr Cox and his team we left the Lab, said our "goodbyes" to Amanda and John and returned to the camp for a couple more days before going back home.
How many families drive by Jackson lab while visiting Bar Harbor and never think about the work they do? Although my sons were expecting to see the mice and were more than a bit bored, it was a fascinating opportunity for the rest of us. It was an excellent opportunity to learn and meet with people who are working to make life better for those affected by DMD.
I guess you could say this wasn't a completely typical family vacation, but for those of us living with DMD nothing is typical. If we are able to stay at our friend's camp next year I will make plans to visit the Lab again with more questions and an appreciation for the work being done there. This was an opportunity to establish a relationship with people involved in DMD research and we hope to build on it. I guess it could be said we don't have real vacations from DMD, yet we do have choices on how we spend the ones we have.