Lucas Camilo

It’s been a tough time for the community of families with kids who have myotubular myopathy.  We wanted to take a moment to acknowledge the huge challenges some of Lucas’s MTM buddies have faced, as well as a devastating loss.

We’ve been fortunate to get to know a lot of these good people through the biennial MTM family conference as well as through Facebook (and, a couple families even live in the greater Seattle area.)  There are so many ways that our lives are similar, simply based on the fact that our boys were born with the same disease.  Any time we have something going on with Lucas — for example, thinking about sleep problems and body positioning, or deciding whether to do a drug infusion to help strengthen Lucas’s brittle bones — we post the question in the MTM discussion group and get dozens of responses within hours.  And remember, this is not a huge community.  Some 1 in 100,000 kids are born with MTM and many of the kids don’t survive their first year… we figure there are just a few hundred families out there with MTM kids.  And yet many of those families have built a powerful and supportive community, and we feel lucky to be a part of it.

Javad at the MTM family conference in 2013

Certain parents really step up and act as guiding lights for the entire community.  One of those is our friend Shannon, who lives in the Portland area.  A couple years ago we had the opportunity to visit her family’s house and meet her awesome son, Javad.  It seems like every time there is a crisis in the MTM community, Shannon is leading the outpouring of support.  This time, it’s Javad who had a very traumatic episode that landed him in the ER.  It involved a major seizure, cardiac arrest, CPR, and eventually a long, slow healing process in the hospital.  Having been through a similar episode with Lucas a couple years ago — though not quite as extreme — we feel real empathy, and also feel fear and sadness, for Shannon and her family as they wait for the Javad they know to come back.  We also know the strength and resolve of Javad and his family.  Like so many MTM kids, Javad has been through much in his 13 years of life.  We are sending our most positive thoughts and tons of love during this most recent, intense challenge.

As all of this is going on, another one of Lucas’s MTM comrades is facing a major surgery.  Chris is just a few years older than Lucas and geographically the closest MTM family to us.  So we’ve gotten to know his family pretty well.  They even passed on Chris’s old hammock swing to us recently, which we promptly set up in our living room and which Lucas already loves.  Chris went through a major growth spurt in the last two years and with extremely weak muscles and brittle bones like Lucas, its been tough for his body to keep up.  So next Monday he’ll have spinal fusion surgery.  We’ll be thinking of Chris and his parents next week and hoping that he comes out stronger on the other side.

Lucas and Benjamin meet in 2013

Finally, during our stay at Children’s with Ida last month we got some horrible news: a young boy named Benjamin, who we met back in 2013, passed away.  Benjamin was an amazing little guy who inspired the construction of an accessible park in the New Orleans area last year.  We met Benjamin and his family at the MTM conference a year and a half ago and got to know his parents too, including a hilarious night when we brought Lucas and Benjamin into the hotel bar to drink beer (the parents at least) and watch a late night Mariners game on TV.   We can’t imagine what his family is going through and think about them often as they grieve but also find strength and courage moving forward in life.  Benjamin will be remembered as a fighter and a sweet, beautiful boy.

We are awed by these families and proud to be part of the MTM community.  During our struggles last month with Ida in the hospital some people praised us for our strength.  We appreciate it, but if anything, we have learned it from other families before us… and grown in our own resolve through the support of the MTM community as well as our own family and the broader community of friends around us (who have come up so huge over the last 5 weeks since our lives became a little more complicated).  For now, we want to hold up all the kids with MTM and all their families, especially those struggling the most right at this moment.

Getting to be Lucas’s parents was awesome, despite all the challenges.  It turns out parenting Lucas and a little sister can be even more fun, especially when no one is in the hospital.

Ida has been home two weeks now, and as she grows and thrives the whole hospital ordeal feels more and more like some distant bad dream.  At home we get to just enjoy her funny noises, ridiculously cute faces, and the joy of seeing Lucas and Ida together.   Lucas continues to thrive as a big brother, keeping track of Ida by her sounds from anywhere in the house and regularly asking “what’s my sister doing?”  He’s learned to interpret her sounds for us: any signs of a cry from her and he says matter-of-factly, “she’s getting fussy, I think she’s hungry.”  And when we snuggle up to watch a movie or read a book, he often asks us to put Ida on his belly or by his side.

The other really exciting news is that Ida is doing great at coordinating her eating and breathing!  In fact, a week after we came home from the hospital we decided to disregard the conservative warnings we got from some of the hospital staff who insisted that she wouldn’t breast feed any time soon.  Instead, we called in a very experienced lactation consultant, and with her supervision we let Ida try again at breast feeding.  And she did great!  In fact, she did better at nursing than she did with her high-tech hospital bottle  (which didn’t surprise the lactation consultation one bit).  Ida still doesn’t coordinate the suck/swallow/breath maneuver perfectly all the time, so Krista’s pumping milk and we bottle feed her at times.   But she’s done so well that we took the NG tube out almost immediately — and that was nearly 10 days ago.  We also rented an extremely sensitive scale so we could be sure she was getting enough to eat.  And indeed – she’s already gained a pound and a half since birth, making her a chunky 9 1/2 pounds.

Here’s are some pictures from her first few weeks:

Not to be outdone by his sister, Lucas has a few updates of his own that we wanted to share.  As we’ve mentioned in previous posts — mostly about Ida — Lucas has been a champ through this busy, exhausting time.  So he earned a trip to the Burke Museum today for their annual “Dino Day.”  Fortunately, our great friend Tio Sha is in town so he accompanied Burke and Lucas to the big festivity while Krista and Ida stayed home for some chill time.

Dino Day proved to be totally up to the hype.  Of particular interest was a set of Edmontosaurus bones recently unearthed in Montana which were on public display for the first time.  Lucas ate it all up… he even got to make his own dino feet and wear some T-Rex hands, as well as watch daddy swing around an Ankylosaurus clubbed tail.  Check out the pictures below, along with a video of Lucas cracking through shale to find his own 49 million year old leaf fossil:

In other news, Lucas has been working hard at school perfecting his power chair driving.  After getting a new loaner chair with a much better set up, he’s been improving in leaps and bounds.  We think he’s ready for the big driving test next week which will determine whether the insurance company will pay for a power chair of his own.  Check out the videos below – first, one from three weeks ago in which he pauses to show of his Therizonosaurus claws.  Then a longer one from just last week in which he drives all the way across the school to his classroom.  Go Lucas!!

http://youtu.be/m5zIkGNH4F8

http://youtu.be/rNvY1EY_cO0

We just want to say again (if we haven’t already mentioned it enough) how much we appreciate the amazing support from our community over the last two weeks.  The thing is, we actually really needed it.  It was hard enough to spend so much time in the hospital shortly after Ida’s birth; but the experience also brought back some of the trauma of Lucas’s early life, along with a lot of the anxiety, fear, and distress we experienced five and a half years ago.

It’s not uncommon for a newborn to spend some time in the hospital, not uncommon for a baby to have some challenges around breast feeding.  But with Ida, some of what we saw was very reminiscent of Lucas, even if we were perhaps being extra sensitive.  The big moment of terror came a couple hours into our ER visit as we tried to spoon feed Ida.  Suddenly she coughed, grimaced, and began turning blue as the pulse oximeter she was attached alarmed.  We  glanced up and saw the number for oxygen saturation drop from 99 into the 60s.  Most parents would have no idea what that meant, but for us it was all too familiar.  Having seen such a thing happen countless times with Lucas in his early years, the possibility suddenly occurred to both of us that Ida was heading down the same path.  She recovered quickly, but we didn’t.  We looked into each others eyes and both started crying.

As it happens, it was our own mistake – spoon feeding a 2 day old baby who is trying to sleep probably wasn’t the best idea.  Its been a week and a half since that incident and nothing similar has occurred.  Ida is breathing fine.

But the other thing that struck fear and dread into our hearts was a single word we became all too familiar with during Lucas’s early life: hypotonia, or low muscle tone.  Most doctors who examine Ida use that word, even though with her its always described as “mild” whereas with Lucas it was always “severe”; but just hearing the word was enough to make us start imagining a very different future with Ida than what we had hoped for.

Indeed, our biggest worry when things started getting wacky that second night was that she had the symptoms of myotubular myopathy, or MTM, the disease that Lucas has.  For those that have followed Lucas’s story, you know that his disease is “x-linked”, meaning it only manifests itself in males (since females have two X chromosomes and the “good X” chromosome is able to compensate for the abnormal one.)  However, we know that in rare circumstance women and girls can develop symptoms of MTM, usually very mild ones that don’t present until later in life.  In a few cases, baby girls have been observed to have a more severe form of  MTM, through a process called “X-inactivation” (you can google that one if you want.)  Maybe Ida was that one in a million.

So we spent a lot of energy those first few days in the hospital investigating this possibility.  Ultimately, our research and discussions with other MTM families, along with some of the preeminent MTM researchers in the world, has led us to believe that Ida most likely does not have MTM.  Or if she does, the symptoms are slight and likely to improve.  This feels like a big relief.

Still, her muscle tone is lower than the average baby.  And though she’s taking more milk by mouth every day, we’re being cautious and making sure that she doesn’t have any more scary episodes.  Babies are hard-wired to protect their airways, so more troubles feeding by mouth could make her wary of breast feeding going forward.  That’s why she came home with the NG tube (otherwise know as a Nasogastric Tube) to help supplement the food she’s currently taking through a bottle.  It’s no fun bringing a baby home with equipment, and yet we couldn’t help joking to ourselves (and with the nurses at Children’s) that learning to use a NG tube kinda feels like learning to change a newborn diaper… at least compared to changing a tracheostomy tube, which we do all the time with Lucas.

So if it isn’t MTM, what is going on with Ida?  Maybe nothing.  In fact, that’s the most likely explanation at this point.  Or rather, something doctor’s like to call “benign congenital hypotonia”, which basically means unexplained low muscle tone that usually goes away as a child gets older.  The unsettling thing is that some doctors suggested labeling Lucas’s condition benign congenital hypotonia at one point, a possible diagnosis that we latched onto as a best-case scenario (which, after research, seemed extremely unlikely given the complexity of his symptoms.)  We’ve had various moments of deju vu during the last 2 weeks.  One of the more strange was the realization that we were googling “benign congenital hypotonia” once again and reading some of the exact same medical sites as we did back in 2009.

Having Ida home is wonderful — each new day bringing new sounds and expressions, signs of awareness and curiosity about the world surrounding her.   And seeing Lucas interact with her is pure joy.  But we’d be lying if we said that all is well.  There is still sadness in having a baby who spent time in the hospital and came home with special equipment (albeit equipment 100 times easier than Lucas’s gear, and which is only expected to be with us for the short term.)  There is still frustration at having to schedule follow-up appointments, begin paperwork for early intervention services, and wade through the various opinions about her feeding issues and steps to get her back to breast feeding.  And there is still fear about an unknown future that could involve a diagnosis.  We continue to appreciate all the support and love from our community and thank you for being at our side during this magical, exhausting, and uncertain time in our lives.