Lucas Camilo

Lucas carried the momentum from all his spring break animal adventures into school over the last few weeks.  He continues to make gradual progress with his power chair driving and is also learning to use a special iPad set up to be used as a assistive communication device.   In classic Lucas style, he’s much more interested and amused by the idea of turning the communication program into a game, and especially loves stringing together long, repetitive, sometimes-garbled sentences and then playing them over and over again… all the while smiling proudly at his work and repeating the nonsense the device is spitting out, even hours later when we’re doing something different.

I’ve been thinking lately about some puzzling challenges and paradoxes in relation to Lucas’s behavior and development (this is Burke writing, by the way.)  Now, I’m not a social scientist or anything so this is not based on any scholarly research about childhood development, or disability.  Which is to say that I don’t really know what I’m talking about.  But as Krista and I often find ourselves observing and talking about the weird, fascinating, and sometimes frustrating contradictions of Lucas’s personality, I figure its worth sharing a little…

One example is how Lucas relates to other people, especially in groups.  To begin with, communication is difficult for Lucas because of the weakness related to his disability which makes it hard to be in a position to see what’s going on and then communicate about it, and also leads to him having a quiet voice, slurred speech, and a limited ability to carry on longer conversations.  (Ok, that last one is an understatement, but we’ll get to that more later…)  A few weeks ago Lucas went through a very tough stretch in terms of hanging out with other people.  The low point for me was our attempt to take him out to a Jewish seder that a bunch of our friends had organized.  It was such a great community event with lots of people who know Lucas and were excited to see him.  But after about five minutes he was done, constantly on the verge of tears, demanding to go home, eventually agreeing to read books with the awesome childcare volunteer Mollie but still just barely holding on.  A few minutes later, though we had to leave shortly after the program got started and it felt disheartening, for me at least.  As soon as he got back in the van, Lucas was happy as could be.

Events like this had us talking and wondering – what is that frustrates Lucas about these interactions with other people?  Is he starting to recognize the limitations of life with a disability?  Maybe sometimes he just doesn’t have the energy and patience to try to communicate.  Or is it just a typical phase for a kid his age, throwing tantrums when he doesn’t get his way (in this case he had made it clear from the beginning that he would have rather been at home reading books).  It’s tough to know because Lucas doesn’t verbalize to us any of his emotions, or explain the reasons behind his desires.  But he does get pissed when he doesn’t get his way.

Just when I start to wonder if we’ll ever be able to participate in a group activity with Lucas (other than going to the library, zoo or aquarium) he had a couple of great interactions.  We had some friends from CISPES over for a “Education Night” involving some political readings, and though he preferred to watch Winnie the Pooh for the first part of the evening, we got him in his chair before bed and he proceeded to wow the crowd with his ability to spell the names of  all the characters who roam the Hundred Acre Woods.  He was so proud of himself, beaming as he belted out the letters, as if on the verge of winning the spelling bee.  He had a few other great interactions in the ensuing weeks, including a poltluck at our house last Sunday and a  service at the Valley and Mountain church in south Seattle.  So we know that he can do it.

You can see the baffling contradictions of Lucas’s development at these moments.  On one hand, he’s keenly aware of people around him, repeating something that someone says a moment later – with the perfect intonation and in a way that makes it obvious that he knows he’s making a hilarious joke, and one that comes across as advanced for a four year old.  Or, he’ll go through and name a type of insect that starts with every letter in the alphabet from A to Z (Harlequin cabbage bug anyone?)  He can almost do it with dinosaurs too, incidentally.  The point is, he’s a smart kid.  But then someone asks him what he did at school that day and he can’t answer.  Maybe it’s just that he’s refusing to answer, but the way he responds it seems like he genuinely doesn’t know.  It’s kind of a mystery.

What I can say with certainly is that his cognitive development is not typical.  We used to say that he has a physical disability but that mytubular myopathy does effect his mental development.  But even though I still say it sometimes, I don’t actually think its true.  Nor do I think he falls on the autism spectrum (though we have at times considered it).  His development delays are pretty unique… something that deserves more description as I’m curious what other MTM parents (as well as parents of kids with other disabilities) have to say about it.  People sometimes hear us describe this and try to minimize what we’re seeing, saying it’s no different than a typical four year old.  The truth is, some of these things are regular-old-kid behavior… But we also see things that seem socially, emotionally, or cognitively unusual for a kid his age, and we want to acknowledge and even be curious about that part of Lucas, too.

The most obvious example is his continued insistence on using the second person to refer to himself – and conversely, the first person to refer to someone he’s talking to.  So Lucas will say “you want to read a book!” or “you’re going to go to school today” when referring to upcoming activities that he plans to engage in.  When we correct him he’ll say “I want to read a book” drawing out the “i” sound so as to emphasize the change.  But then moments later he’ll be back to saying “you.”  And whenever I do something funny that makes him laugh but that he doesn’t totally understand he’ll say “What did I do??”, meaning, of course “what did daddy do?”  It’s our own fault, in a way, because a few years ago when he started doing it we cracked up every time, thereby reinforcing the behavior, especially since Lucas loves to make a good joke.  But now he’s months away from his 5th birthday and still doing it!  Krista and I, as well as his nurses, are used to it, and we often correct him but sometimes just continue with the conversation.  For others, its jarring and contributes to the challenge of communicating with Lucas, which already requires a lot of patience.  His favorite way to answer a question is “you want me to tell you!” which is basically his way of saying “I don’t know” but literally means “I would like you to tell me the answer” with the pronouns reversed.  Trying to explain this to the person who has just asked “what’s your favorite color Lucas?” is kind of like doing a rendition of “who’s on first.”

The “you want me to tell you!” refrain deserves special mention because it is the single phrase that Lucas most often says – by a longshot.  I’ve started to think of it as an expression of his confusion – and perhaps, incipient frustration – with his disability.  Lucas is prevented from doing so many things because of his extremely limited mobility, and I think that he’s starting to realize that and internalize the frustration that it leads to.  The exasperation I sometimes hear in his voice when he says “you want me to tell you!” conveys that sense of immobility.  It’s like he’s saying, “I have to ask you for everything else – books, game pieces, moving my arm when its stuck on the couch – so I might as well just get you to answer that stupid question for me too!!”  Who knows, I’m probably reading too much into it, but there’s no doubt that oftentimes when he says “you want me to tell you!” he in fact has an answer to the question and chooses not to say it.

As I’ve been writing this post over the last few days Lucas has been doing especially great.  He’s just sooo happy sometimes, and his smile and joyful high-pitched voice at those moments is infectious.  My parents and I took him to the Burke Museum on Sunday and after checking out the small dinosaur exhibit we spent nearly an hour playing with little plastic dinosaurs, and he was ecstatic.  Then we picked up some dinosaur quiz cards from the bargain rack at the bookstore, and one of them asked “what’s the longest name of any land dinosaur?”  The answer, of course, is Micropachycephalosaurus.  I told Lucas that, he repeated it, and we went on to the next question.  Later that night I asked him what the longest dinosaur name is – and without skipping a beat he said “Micropachycephalosaurus!”  And this from a kid who still doesn’t use “I” when referring to himself.  Go figure.

On Friday morning we read a single line from a parent of another little boy with MTM – “We held Matteo until his heart stopped beating at 4:30 am.”

Everyone in the MTM community had been following along for a week after Matteo suffered a devastating seizure and cardiac arrest that left him in a coma.  It’s impossible to describe the feelings of heartbreak we felt during this time… not to mention total admiration for the family as they struggled through the final days of their son’s life.

Since Lucas was born a number of boys with myotubular myopathy have passed away but Matteo is the first who we actually got to know.  We met him at the MTM family conference in Minnesota this summer and he stood out as a bright presence – slightly older than Lucas and doing so well in school, and in the world, that he gave everyone hope.  We also marveled at how amazing and dedicated his parents were, having driven from southern California with Matteo in order to be at the conference.  Donald, Matteo’s dad, gave us a tour of their van and proudly showed off various ingenious adaptations (as Burke took notes).  His mom Nancy joined a small group of parents that we helped organize for a two-hour session of personal sharing about the challenges of raising kids with MTM, and she was extremely thoughtful and caring in her words.  We talked about setting a meeting place somewhere in Northern California where we could get together and have a mini-west coast MTM conference some time in the future.

Matteo’s seizure was sudden and his death totally devastating for everyone.  And yet this is the reality of loving a child with a severe neuromuscular disease like MTM.  What was perhaps most powerful and heartbreaking about Donald and Nancy’s updates during the last week of Matteo’s life is that we could imagine ourselves there, in that hospital room, in that situation.  They described doing things we have done — washing the gluey gunk off after an EEG test, singing your son’s favorite song to him while he sleeps, and hoping and praying with all your soul that things will get better.  Donald and Nancy have been incredibly open, inviting the MTM community in to witness their painful journey these past days.  Other families who have lost children have in turn responded with sympathy, telling about their first days home after losing their children.  The rest of us know we could be in their shoes, and we send so much love, because that’s all that we can really do.   But we also hope that when we need it, we find a way to embody the courage, poise, love, and humanity that Donald and Nancy have shown in the last week.  Just one example of their big-heartedness in the midst of tragedy is that they worked out complicated logistics so that at least four other children benefited from Matteo’s donated organs.

Death puts everything quickly into new perspective, like a rapid zooming-back of the camera so that you can see what was always there, barely out of view: that we are mortal, and that our lives are fleeting.  We’re trying not to give Lucas too many more squeezes (he’d be annoyed that we were interrupting his precious reading and spelling time), but we are feeling extra aware of how precious our time with him really is.

It’s taken us a while to get settled back in Seattle after the MTM family conference.  After a very busy week catching up we finally have some time to write more about the experience.

As we said in a previous post, the highlight of the journey for us was meeting other families and being in a space where we could learn from each other.  We’ve heard that some of our MTM friends felt let-down after leaving the conference and perhaps that’s true for us as well; the sense of connection and belonging that we experienced during 3 days in a Minneapolis hotel is not something we feel every day.  The funny stares when we fire up the suction machine or the quick look away of people who can’t bring themselves to witness Lucas and his ventilator – all that is real and it’s only when you spend a few days surrounded by people totally comfortable with vents and suction machines (not to mention all the other equipment) that it feels disconcerting to be back in the role of “other.”

But it was more then just the fact that people were accustomed to a kid like Lucas.  It was celebrating and laughing as we told stories about our life with Lucas, and seeing a look of total understanding on the face of someone else.  It was also important to be able to talks about the harder parts of life, the frustrations and challenges, and even grieve a little.

So yeah, the conference was great for us… but, as people have asked since we got back home, did Lucas have fun?  From what we could tell he also enjoyed himself (he often said “You’re at the conference!  We’re in Minneapolis!”) and though it was tough at times to get him interacting with the other kids, we’re very glad that we figured out a way for all of us to go as a family.  He was in such a good mood the opening night of the conference that we took him to the hotel bar with another family to watch the Mariners-Twins game on the TV.  Needless to say it was a pretty funny sight to see two MTM kids and all their gear sidled up to the bar.

It was interesting to meet the other kids and learn about similarities and differences with Lucas.  For example, Lucas still refuses to use the first person when referring to himself  and we learned this was also true of a couple other kids.  Andy is a smart kid in the 5th grade who still refers to himself in the 3rd person (Lucas prefers the 2nd person as in the title of this blog post).  A lot of the kids tend to be very focused and skilled at memorization and attention to detail.  They also have trouble expressing emotions.  Indeed, a couple parents mentioned that the idea of their kid being on the autism spectrum had come up more than once.  This is something we’ve also started to talk about lately… but the doctors and specialists are so focused on Lucas’s respiratory system and physical health that sometimes it feels like no one bothers to noticed that he also has a brain…  and that his cognitive development is a little quirky.  The parent-to-parent session at the conference gave us a great opportunity to talk about all of this.

One final thing we noticed through observing and interacting with the other boys is that Lucas tends to be on the lower end of the spectrum when it comes to muscle strength – most of the other kids, for example, can sit up on their own and/or hold their heads up (Lucas needs assistance for both).  This was hard for us, and we couldn’t help but feel envious at times and wish that Lucas was just a little bit stronger.  On the other hand, he tends to be on the upper end of the spectrum when it comes to communication skills.  We do feel very fortunate about his ability to verbalize and say what he wants.

Going back to the medical research, this was another area where we found ourselves with mixed emotions.  On one hand, its very exciting to see all the progress that has been made (we mentioned some of this in a previous post back in May).   We knew a lot of the general information about the MTM research, which is advancing in two realms: gene transfer therapy and enzyme replacement therapy.  The former has made the most progress in the last year, in particular through trials involving MTM-affected dogs.  There is no assurance that successful trials in dogs will lead to success in humans, but the research has come far enough along that private biotech companies and venture capitalists are jumping into the mix.  So in addition to the doctors we heard from some of the leaders of these companies who plan to move the research towards clinical trails in humans – which is to say that some of the kids at the conference could someday be the beneficiaries of such a treatment.

Even as we worked through our skepticism about the interplay of capitalism and disease research, we found ourselves cautiously optimistic, but perhaps not as exuberant as some others in the room.  Clinical trials are at least a few years away, and an actual treatment on the market is a few years beyond that.  What’s most important for us is to keep doing everything we can to make a good life for Lucas in the here and now, while also supporting advocacy and accessibility for people with disabilities.  We’re grateful for all those who are so invested in producing a treatment for MTM, and for everyone who challenges those aspects of our society that tend to limit the lives of people with disabilities.

One final highlight of the conference was the variety show on Saturday night.  Lucas was up first and was totally ready to sing “Take Me Out to the Ballgame” (he’d been practicing for weeks)… until Burke put the microphone in front of his face.  There was a long silence as we waited for him to start singing, broken by Lucas pointing to the mic and saying “you wanna put that away!”  The rest of the crowd ended up joining in for a rousing rendition of the song, and though Lucas pretty much refused to sing, he did motion “1-2-3 strikes you’re out!” during the final stanza.  And later in the hotel room he redeemed himself  (see video at the end).  There were other great performances, including a 19-year with MTM lip-syncing a Bill Cosby monologue, as well as some of the doctors and researchers doing a sing along of John Denver’s “Country Roads” (a favorite of Lucas as a baby).

Finally, we want to thank the organizers of the conference (Erin, Mark, Shannon and Marie) who did an amazing job making it happen, as well as others like Paul and Alison Frase (co-founders of the Joshua Frase Foundation) who have helped make this coming together possible. There was so much that was great about the conference that we find ourselves scheming about ways to continue connecting in person with the families that we met, as well as others who couldn’t make the trip to Minnesota.  Already there are discussions about a west-coast MTM gathering that would focus entirely on hanging out and sharing between families.  We’re looking forward to it…

“Take Me out to the Ballgame”

Another video of Lucas and mommy playing baseball in the kids area at the conference:

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!

(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.

One of the highlights of our road trip north a few weeks ago was the visit to the Beggs Lab in Boston.  In a way, going to the lab was the ultimate destination of our journey up the eastern seaboard.  Though we knew that we weren’t going to come away with any major revelations, we also figured this would be the one time to take Lucas to the lab and meet some of the researches there before moving west.

So despite limited expectations, we were excited to walk into the lab on June 27 and meet the famous Alan Beggs.  In fact, Dr. Beggs is a very gentle, thoughtful man (who’s really only famous in the world of children with severe muscle disease), and he invited us into his office for a long chat, ready to answer any and all questions we had for him.  Dr. Beggs and the genetics counselor Elizabeth (who we had communicated with prior to the visit) were excited to meet Lucas, and it occurred to us that these researches probably didn’t have many opportunities to meet the wonderful children like Lucas who are affected by MTM.

The meeting started off with a bang: we laid Lucas down on Dr. Beggs nice couch and within minutes he had filled his shorts (after a 3-day hiatus from so doing!) and was gurgling with pleasure at the feat.   Meanwhile, Dr. Beggs had launched into an overview of the different techniques being researched as possible treatments of myotubular myopathy.

First, he explained that they had already come along way in figuring out that the particular gene mutation seen in people with x-linked MTM affects the production of an enzyme called myotubularin.  Lucas’s low muscle tone (and that of other people with MTM) results from the lack of myotubularin, which in turn prevents the proper development of muscle fibers.  One thing we learned from Dr. Beggs and Elizabeth is that, based on the reading of Lucas’s DNA test for MTM, his body is probably not producing any myotubularin, whereas some kids with less severe forms of x-linked MTM do produce some of the enzyme.  They were able to determine this because the test shows that the defective MTM gene is missing a pair of amino-acids.  Since genetic information comes in triplets, missing a pair throws the entire sequence out of wack and likely means no myotubularin is produced.

Dr. Beggs explained the different directions of research for possible treatments.  Their lab is looking into gene therapy, the technique we had heard most about, in which the mutated gene is replaced by a “good” gene mechanism.  Researchers are trying to figure out how to deliver the new genetic information to all areas of the body, perhaps attaching the new genetic material to a virus to help it spread.   The concept of gene therapy has been out there for a while but researchers are still far away from making it work – whether as a treatment for MTM or any other disease.

Researchers have also been working on a technique for infusing the blood with the missing myotubularin protein.  It has been tested on mice with positive results and in recent years there has been excitement about finding a Labrador dog that also carries the MTM mutation to begin testing on.   Still, the method is in the early stages of development and needs a lot more research before it could have potential with humans.

Another area of research involves helping the muscles grow in strength, despite the missing myotubularin.  One possibility they’re pursuing is a muscle transplant-like procedure.  A person would be given new muscle fibers, which would then reproduce using the stem cells of the non-MTM muscles.  And finally, there are researchers looking into the possibility of giving muscles the capacity to grow bigger by inhibiting the action of an enzyme called myostatin that regulates our muscle growth.  Apparently, animals who have this naturally occurring genetic disorder are able to grow enormous muscles. (Beggs showed us pictures of really enormous-chested dogs and cows.)  If it worked, this kind of treatment might be useful not just to kids with MTM, but to people with other muscle diseases as well.

We knew we wouldn’t get any promises of treatments being available soon, and when we asked Dr. Beggs he walked the line of not giving us too much hope, but not dashing it, either.  He said he didn’t think anything would be ready for trial on humans in less than 5-10 years.  And he added that researchers gave a similar timeline for duchenne muscular dystrophy in the late 1980s, and yet they still haven’t found a treatment today.

The experience of being at the lab and in Boston was an important one for us and we left with a much better understanding of what Lucas’s disease is all about.  But the conversations at the lab were scientific and “interesting,” not personal.  It was only later, as we drove away, that we started to feel the heaviness of what we were learning.

Our belief has been that Lucas’s steady progress in terms of movement and strength will continue to be an upward curve.  After the experience in Boston we’re now aware that might not be the case.  Some boys who are on the more severe end of the MTM spectrum (as Lucas appears to be) have reached a peak at a young age in terms of strength and movement.  As their bodies got bigger and heavier to lift they’ve encountered more challenges, like having a hard time interacting and communicating without augmentative devices.  It’s scary to hold the possibility that all the amazing steps Lucas taken – especially in terms of his ability to use his arms and express himself through sign language – may not continue to expand.  In fact, scary is an understatement.  It’s downright awful, at times, to think about the future and the fact that Lucas could face even more physical barriers than he does now.

Of course, by the time we got home we were back to our regular routine of enjoying hanging out with Lucas and all his brilliance, goofiness, fussiness, challenges and strengths.   We continue to get excited about all the progress he makes with sign language, physical development, and everything else. Celebrating Lucas for who he is in the present remains our guiding philosophy, even if new knowledge sometimes makes us nervous about the future.

We’re writing with a major sense of accomplishment today having just returned from our first big family road trip — to Brooklyn, then Boston, then back to Washington DC.  We had a great time, and Lucas was especially a champ.   Most of the trip went better than we could have hoped for, though it was not without its rough spots.  For example, Krista has sworn off EVER driving into New York City again.  Ever.

much needed rest near our rented hybrid SUV

There were so many remarkable things about the trip.  First of all, Lucas has never sat up for more than a couple hours at a time before… and our drive from DC to Brooklyn took more than seven!  Though we took a couple short breaks along the way, this was still asking a lot of Lucas’s body.  He was exhausted by the time we arrived, and we were worried that he might be pooped for the next few days.  But as soon as we got him out of the car and into a bed, he perked up and was in good spirits.   And the same thing happened with our drive from NYC to Boston (which took five hours) and the return trip to DC (which we split up into two parts).  He read books, played with his singing turtle, read more books and requested that we sing songs.  As the trips wore on he got impatient and then physically drained, but that’s to be expected of anyone who spends so much time in a car.  So though it was tiring, it was exciting to discover that Lucas can travel far from home.

A major highlight of the Brooklyn trip was reconnecting with so many friends, some who had never met Lucas or hadn’t seen him in a long time.  Saturday was a beautiful summer day, and we spent 10 hours sitting out on Kevin and Liz’s porch as friends stopped through to hang out.  A special moment was Lucas’s meeting with our friends Manuel and Lisa and their two kids, Emelie and Antonio.  They brought Lucas a few of their favorite books and the two of them were patient and gentle as they read through the books with him.  It was incredibly sweet to see Lucas hanging out with kids we love so much, especially since he’s been nervous in the past.  We saw so many other friends throughout the day – Jacoby and Lezlie, Marsha and Ruby, Jesse and Alessandra (who were 9 months + 2 days pregnant!), Elspeth and Katrina, Phil, Tom and Chris – and we want to say thanks to all of you for making your way out to visit us!

(Lucas wouldn’t let us write about Brooklyn without mentioning the fact that we stayed at the “cat house.”  Kevin and Liz have four cats, and the minute we got into the house, Lucas spotted a cat and started frantically making the sign for “cat”.  He was very proud of himself, pointing and making the sign every time he saw one.  He also loved their ceiling fan, pointing it out and signing “fan” almost as much as “cat.”)

In Boston we spent more time connecting with new/old friends, and Lucas continued to do well.  We stayed with Jocelyn and Jason and their two kids, Arabella (2) and Jackson (4), who had been getting ready for Lucas’s arrival by practicing calm voices and gathering up duck books.  Their strategy worked – Lucas seemed very happy hanging out with them, and again it was great for us to seem him interacting with kids.  They even took us to a playground near their house where Lucas got to swing (with some help) on a playground swing.  He was tired from all the travel that morning but also totally fascinated watching Arabella swing right next to him.

Jason, Jocelyn, Jackson and Arabella were amazing hosts and we really appreciated having the kids spend time together and being able to have other friends drop by their house (like Christy and Oz, who stuck around for some quality book time with Lucas). It was also great to talk parenting and politics with Jocelyn and Jason after the kids went to bed.  Burke and Jocelyn met while living in El Salvador back in 2002 (though they haven’t seen each other since), and because Krista also lived their for more than a year we had many mutual friends to catch up on, stories to tell, and Salvadoran politics to dissect late into the night.

Our trek to Boston was partly vacation, but we also chose to go there in particular because we wanted to meet the researches who are studying myotubular myopathy.  So on Monday afternoon we went to the lab at Boston Children’s Hospital and met with its director, Dr. Alan Beggs.   Dr. Beggs and Elizabeth, a genetic counselor who works with him, made us feel very welcome, and they were clearly happy to meet Lucas.  We’ll write later about what we learned there – nothing astounding, but more details than we had known before.

Before heading back to DC we got to meet two families of kids with disabilities.   On Tuesday morning we met Will, a 10 year old with MTM, his mom Erin and their nurse Sue at the Boston Science Museum.  Will knew Lucas likes duck books so he brought Lucas “Make Way for Ducklings” (a Boston classic).  Will’s a huge Red Sox fan, and he used his computer to tell us about his recent adventures meeting some of the Sox’s players.  It was great to meet Will and Erin and begin to learn from their many more years of experience.  The night before we got to meet Jim and Cora, parents to a 3½ year old named Leo (who we didn’t get to meet this time around).  Leo has some similar and some different special needs as Lucas, and it feels like we have a lot in common with his parents just by nature of being young families navigating disability.  Dinner with Jim and Cora felt like meeting old friends – relieving to meet other people who know what we’re going through even before we start telling them about it.

Thanks to everyone who helped make the trip possible!  Here are a few more pictures:

Kevin reads a book while hangin’ in the cat house

Lezlie, Jacoby and Lucas get crazy with finger pupets

Lucas is not actually that into drawing but he sure does love eating the markers!

Lucas has been doing really well lately, making lots of progress in therapy and continuing to expand his sign-language repertoire. He’s been loving taking trips in the car – last week we drove out to the Aquatic Gardens in Southeast DC, today we went to Takoma Park Jazz festival – and is much more engaged and aware as he cruises around in his kid kart. It seems like everyday Lucas does something new and cool.

We’ve had some sometimes revealing, sometimes challenging visits with doctors and healthcare professionals recently.  A few weeks back we finally went to Children’s to see the neurosurgeon regarding Lucas’s MRI in April (a rather harrowing adventure if you recall).  He assured us once again that Lucas should not get a VP shunt (which would help drain fluid from his brain) despite the fact that his ventricles remain large from hydrocephalus.  Since the ventricles do not appear to be growing at a rapid rate or exuding pressure on the rest of his brain, a shunt is simply not worth the risk associated with surgery, infection, etc.  We expected this answer and were satisfied with it.

But his answer to our question about other possible effects of the intraventricular hemorrhaging Lucas had at birth was surprising.  In his opinion, the MRI shows a reduced amount of white matter in Lucas’s brain which could ultimately impact his development.  We had allowed for the possibility that the bleeding in Lucas’s brain when he was born could have led to other minor adaptations in his brain, but we hadn’t heard anyone talk about reduced white matter (perhaps there was a mention early on but it didn’t seem important next to everything else).  As it turns out, the role of white matter in the brain is somewhat nebulous, and the neurosurgeon didn’t seem all that concerned about Lucas’s lack of it.

According to this Wikipedia article “White matter is the tissue through which messages pass between different areas of gray matter within the nervous system. Using a computer network as an analogy, the gray matter can be thought of as the actual computers themselves, whereas the white matter represents the network cables connecting the computers together.”  It goes on: “The brain in general (and especially a child’s brain) can adapt to white-matter damage by finding alternative routes that bypass the damaged white-matter areas, and can therefore maintain good connections between the various areas of gray matter.”

So what to make of this?  First, everyone agrees that Lucas is intelligent and does not appear to have cognitive delays, and thus our initial reaction was to not be worried.  We did inquire within some of the Myotubular Myopathy support groups and found that other boys with MTM have also had issues with white matter.  We want to talk to other doctors and specialists to learn more, and in fact our next opportunity will be when we visit the MDA clinic at Children’s on Thursday.  And we’ll continue to do more asking around and research on our own as well.

Next up was a visit by two therapists as part of an Individualized Family Service Plan (IFSP) assessment to re-certify Lucas for early intervention services.  It’s been nearly a year since his first such assessment and Lucas has come a long way since then.  Still, since we’ve contracted the physical, occupational, and speech/language therapist ourselves, it’s never been totally clear how early intervention helps us.   Mostly, it ensures that Lucas can get coverage for therapy through Health Services for Children with Special Needs, our secondary insurance.

Lots of special needs parents tell horror stories about the IFSP process and there’s no doubt it’s a strange ordeal – to have people come into your home and “rate” your child and your family as part of an institutional decision-making process which may or may not allow you to have coverage for important services.  So we were pleasantly surprised about how easy the whole interaction seemed.  It helped that Lucas was in a good mood and that the therapists were nice people; ultimately they recognized two things that we already knew: 1) Lucas is a smart kid, and 2) he needs lots of therapy.  They recommended that he continue to get physical, occupational and speech/language therapy, and the process also helped us articulate some of our hopes/goals for Lucas in the short and medium term.

Finally, last week we made out first ever trip to the urologist (adding another specialist to Lucas’s already long list of docs).  Lucas, like many kids with MTM, was born with undescended testicles, which can lead to health concerns but was nevertheless low on the list of things to deal with back when he was born (as his pediatrician once remarked, “no big deal, he shouldn’t be needing those anytime soon!”)  We won’t go into details on this point since Lucas would probably veto this as an in-depth blog topic if he had the choice, but the final word is that we may at some point choose to do a minor surgery that would mostly resolve the issue.

Despite the uncertainty of the white matter issue and the possibility of having to subject Lucas to another surgery, we can’t help but feel pretty good about where he’s at right now in terms of his health and development.  And so we’re planning a big road trip to New York and Boston at the end of June… but more about that in the next post.

Chillin' on the grass at the Takoma Park Jazz Festival (thanks Isham)