Lucas Camilo

Burke’s parents are back in Washington DC this weekend for more Lucas time.  Yesterday Lucas seemed to go into hibernation mode, sleeping through much of the day, but today he was back and ready to play.  He spent most of the late morning and all afternoon trading between Nonna and Papa’s laps for snuggling and workouts.  Lucas has been experimenting more with his mouth, and he impressed Nonna by gnawing eagerly on her finger.  Later he went through his calisthentics workout with Papa, stretching his arms and legs and fingers and toes.  All the activity clearly made Lucas happy, and by the late afternoon he was bright eyed and eagerly looking around.

By the end of it all, someone was tired…

Burke left for El Salvador this afternoon, so Lucas and Krista and Nonna and Papa are holding down the fort for a few days.  Lucas says “Daddy, bring me back something red!!”

Miguel (Burke) esta en El Salvador por unos días, así que Lucas se ha quedado en casa con su mama y abuelos.  Lucas mandó saludos con su papa a sus amig@s guanac@s, y le pidió a su papa que le traiga algo de colorido, ya que su camisita del frente ya le queda pequeño.  Nos da pena no haber escrito en español en los últimos meses, así que en los próximos días escribiremos mas sobre los acontecimientos de los últimos seis meses.  Por ahora, les compartimos este video de la alegría y los movimientos de Lucas en el mundo.

Finally, here’s the latest Lucas joy and movement in the world.  Enjoy!

We still haven’t heard any results about Lucas’s blood that was sent to the University of Chicago to test for the genetic mutation that causes Myotubular Myopathy (MTM).  However, since our meetings with Dr. Leshner we’ve been going about life as it were already confirmed that Lucas has the disease.  That might sound odd, since of course it’s not something we want, but our research so far has only reinforced the theory, and all the pieces seem to fit.  It will be weeks before we hear back on the genetics test, which means it will be weeks before we can actually ask Dr. Leshner about some of our specific questions about possibilities for Lucas’s future.  In the mean time we continue to do our own research and learning.

Researching your baby’s debilitating disease is not an easy thing.  At times we find stories of other children exceeding expectations in life that give us a lot of hope; at other moments we learn things that present really difficult possibilities for Lucas’s future.  Our goal so far has not been to find out every piece of information possible by throwing ourselves entirely into the world of MTM and muscle disease.  Rather, we’re still adjusting to Lucas’s diagnosis, holding in our hearts the many intense feelings that it brings, and adjusting our hopes for the future as we let go of some dreams and embrace new ones.  All the while, Lucas is growing and changing and we get to keep enjoying the everyday wonders of just being with him.

While we’re far from making any definitive conclusions, there are a few things we’re already learning from our research and from stories people have shared with us.  First, a diagnosis does not mean a definitive prognosis, since diseases like MTM manifest themselves in distinct ways with varying levels of severity.  Reading the about different young boys with MTM has reinforced that (you can check out the stories of Jack, Jacob, and Luke… among others.)  Lucas likely has the x-linked form of Myotubular Myopathy which is the most common and severe form, but still there is a lot of variation in how it manifests itself.  There are over a hundred different mutations of the gene that can cause MTM, and it seems that the type of mutation and where it is on the gene strand can impact the prognosis.

Second, though there are organizations and foundations funding research on Myotubular Myopathy and groups of doctors carrying out that research, the knowledge and technology related to genetic disease don’t seem to be at a place where a cure is likely anytime soon.  There do seem to be possibilities related to treatment and therapy that could be helpful for Lucas in the future.  The fact that we’re not hopeful for a “cure” any time soon means that we can be forthright about likelihood that this disease will affect Lucas for his whole life, which in turn helps us accept the challenges that lay ahead.

We’re also continuing to connect with new people, especially other parents of kids with disabilities, as well as communities of people who are living with life-altering physical differences and figuring out ways to embrace those differences.  So far we’ve just begun to tap into the amazing knowledge and support of other parents of children who have MTM.  We’ve found a couple different online support groups (this one is US-based and this one is in the UK), joined some list-serves and a facebook group, and connected with people through the tracheostomy.com website.   We’ve also learned about the first ever MTM family conference, which happened last year right before Lucas was born.  Perhaps most importantly, we’ve connected by email with some parents of children with MTM and we’ve excited about continuing to develop relationships with them.

And it’s not just families that have kids with MTM that have a lot to teach us.  A number of people have related stories about family members, friends or heroes who have dealt with muscle disease or other similar disabilities/different abilities, and that kind of support and solidarity has been incredibly helpful.  We really appreciate that people are thinking about Lucas’s disease right now, and we are grateful for all of you sharing stories, articles and introductions to new people and paths to explore.

This weekend marked another big step for the Hanson/Stansbury family.  Burke went to New York for a board meeting while Krista and Lucas stayed home in Washington DC.  It was the first time since Lucas was born that the three of us had spent so much time — nearly 2 full days — apart.

Lucas missed his daddy lots, but there were a few things that helped make the time pass more quickly while he was gone.  His Tia Alice timed her trip to DC to be here this weekend, so Lucas got to hang out with her most all of Saturday and Sunday.  Although Lucas doesn’t directly benefit from Alice’s cooking, Krista made it through the weekend more fortified than ever, with Alice putting delicious, steaming plates of food in Krista’s hands every few hours.  And Lucas remains a sucker for a good snuggle, so he was also happy to see his old nurses from the Washington Hospital Center, Amy and Erica, arrive on Sunday evening.  They held him and played while Krista got to go out for a couple hours.

Still, it was hard to be apart: hard for Burke to be far away, as he missed seeing Lucas’s beautiful face all throughout the day; and hard for Krista to be the only parent home, responsible for making the many small, often complicated decisions about Lucas’s everyday care.  But it was thanks to all the help and company that we were able to make it through our first dramatic separation.  Now we’re reunited and Lucas seems energized, taking some time off the vent, throwing his arms around the crib with abandon, and making funny faces as we pick him up and move about the room…

(Note: You’ll notice Lucas is wearing a new outfit that he received from his Tia Ashley not long ago.  We’ve heard from a few people that Lucas is a “fashionable baby” and needless to say, we’re a bit upset about it.  In fact, his dad is downright distraught.  Sure, Lucas has a lot of cute outfits but we never wanted to have a well-dressed baby and, as we mentioned before, all his outfits are hand-me-downs or gifts, and many of those purchased at thrift stores.  But maybe it’s our own fault for making that joke a while back about him winning the NICU fashion show…)

The fact that we found out that Lucas likely has a muscle disease during his recent 9-day stay at Children’s kind of overshadowed the reason he was in there in the first place: hyponatremia, or low sodium level.  The doctors vigilantly watched Lucas’s sodium level as slowly came up in the hospital, and continued to monitor him as the sodium remained stable the last few days of his stay.  He went from a record low of 104 the day we brought him in to the ER up to 134 (which is in the normal range) by the time we left.  The docs insisted that we check Lucas’s sodium regularly upon discharge – luckily just twice a week instead of the daily checks they originally ordered.

On Monday morning, therefore, Burke hopped on his bike with a 2 ml vile of Lucas’s blood and braved the snow on the roads to drop it off at a downtown lab… only to have it initially rejected because the code on the prescription was incorrect.  But they eventually took the blood and the next day we found out that his sodium was at a comfortable 138.  Then today we were back at Children’s for a routine appointment with the GI doctor and Lucas gave some more blood.  This time he clocked in at 140, which is still within the normal range, but now on the upper end.  Looks like the heavily salted breast milk is getting the job done, a relief since the last thing we want is to end up back in the hospital again because of hyponatremia…. especially since Lucas continues to do so well at home.  Today he spent much of the day awake, and even looked out the car window and around the parking lot on our trips to and from the doctor’s office (Lucas hates the cold and when we take him out he usually protests by immediately falling asleep).  He was in such a good mood this afternoon that he cracked bigger smiles than usual as we played him bluegrass music and took turns entertaining him with his favorite stuffed animals.

Lucas woke up this morning and requested vegan chocolate-berry cupcakes and a whale bath for his six-month birthday.  Yes, Lucas is six months old today!  It’s hard to begin to reflect on this anniversary without using too many superlatives, so we’ll stick with a description of our day and a few pictures.

We got to the bath early, and his second plunge was as exciting as the first a few days ago.  Lucas impressed us again with whale cooing noises along with hearty kicks and splashes.   Krista got around to baking the cupcakes later in the day, so by the time we were ready to eat Lucas was so groggy that he watched with indifference as we devoured his cake.  It’s OK though — we’re happy to eat it all ourselves.

Although tonight it’s just the three of us, Lucas has had some more visitors since he came home from the hospital.  The national CISPES board met over the weekend, so Lucas got to see friends in town from Portland and El Salvador.  We remain anxious for flu season to wrap up so that he can have more regular visitors, helping to celebrate important markers in our lives… be it the latest whale bath, new noises and movements, or the next big anniversary.

It’s been a long road for Lucas since his premature birth at 32 weeks.  In those early days of his life we never would have thought that we’d leave the hospital with our son after 3 months and still have no idea why he was born premature, what caused his early life-threatening challenges, or why his muscle tone remained so low.  We became fairly convinced that his problems – including the low muscle tone – were due to a brain injury and that there was a good chance his condition would continue to improve as he “recovered” from the injury.  After a while we stopped searching for a definitive diagnosis for his underlying condition because it seemed unlikely we’d find one, and besides, the possibilities were not things we were eager to discover about our baby.

But a few things happened leading up to Lucas’s admittance to Children’s two weeks ago – unrelated to the vomiting that landed him in the hospital – that had us ready to start pushing once again to find a diagnosis.  First, a parent of a child with muscular dystrophy found our blog and commented that our story was amazingly similar to their family’s story.  Then during our regular visit with Kathy, the occupational therapist who has seen Lucas since his early days in the NICU, she commented that his muscle tone really hadn’t improved that much (this was the day before his ER trip so in fact he was especially lethargic because of the low sodium).  She went on to say that she’d worked with other severely hypotonic kids before but never ones that hadn’t been diagnosed with some underlying disease.  It was that night as we sat holding Lucas’s hand, talking somberly, that we began to accept the likelihood that what Lucas was facing would be a lifelong challenge.

We had previously discarded the idea that Lucas had a muscle disease because the area’s foremost expert on neuromuscular disorders had seen Lucas (check out this post from late August), done a clinical examination, and concluded that his issues were more likely related to the central nervous system.  Whenever the neuromuscular possibility came up in the ensuing weeks and months someone would always point out that Dr. Leschner saw Lucas and said it wasn’t related to the muscles.. and that settled it.  We were also convinced, as we wrote in this post about hypotonia, that most muscle disease was degenerative and since Lucas appeared to be getting stronger – albeit slowly – he was therefore virtually disqualified from having such a disease.

With Lucas back in the hospital due to the low sodium level we encountered a geneticist who had observed Lucas early on, and she agreed that seeing Dr. Leschner again made sense.  She spoke to him and the next day he stopped by Lucas’s room.  As soon as he laid eyes on Lucas, Dr. Leschner seemed to know that he had a disease; he asked us a few questions and moved Lucas around a little, and then said “I don’t know who that Dr. Leschner guy is that saw this little fellow the first time, but I’m afraid he got it wrong.  From his appearance it’s very likely that Lucas has some sort of congenital myopathy.”  He explained that there were a couple possibilities – Nemoline Myopathy, Central Core Disease, and Myotubular Mylopathy.  He thought it most likely to be the latter, and began to list some of the classic signs of the disease: severe hypotonia; long body and fingers; large head and long, narrow face; high arched palate; trouble blinking and closing eyes all the way; and so on.  They all fit Lucas.

Dr. Leschner apologized for not having figured it out the first time he saw Lucas but we told him that weren’t upset about that.  In some ways we were happy to have had those months of not knowing.  When he left the room we hugged each other and cried and held Lucas’s hands, telling him that naming his disease didn’t change how much we loved him.  Later that day the snow began and we were stuck in the hospital for the next three days, unable to leave but for some short walks around the block in the piles of snow outside.  During that time we did some of our own research, met again with Dr. Leschner, and spent a lot of time talking and thinking about what this meant for our lives.  As it turns out, the timing of Dr. Leschner’s second encounter with Lucas was pretty good: by the time he was ready to make a diagnosis, we were ready to accept it, and to grapple with what it meant for Lucas’s future.  A lot of you have been surprised to observe how well we appear to be handling this new information about Lucas, and frankly it’s a bit hard to explain.  All we can say is that despite knowing the many difficulties that lay ahead for Lucas and for us as a family, we still feel extremely lucky to spend each day with him.

One of these days we’ll write more about Lucas’s diagnosis but right now the little guy won’t let us – he’s doing too darn good to give us time to research or think much about the future.  Today has been his best day yet since returning from the hospital, including a few hours hanging out wide awake with Tio Sha.

The highlight of the day, however, was his first ever “whale bath”.  The day before Lucas went into the ER we got the shipment of a new baby bath from Diapers.com and the hype began… but we haven’t been able to pull it out until now, more than two weeks later.  Lucas was so excited to finally explore his new bath that he forgave us for the extended wait, and we all concluded that its the best $19.99 we’ve spent (on plastic baby crap, at least).  After 45 minutes sloshing around in the whale-shaped tub we pulled Lucas out and plopped him on the scale… and he weighed in at a hefty 13 lbs. 4 ounces, meaning he’s gained nearly 2 pounds since late January!  All that despite the puking, dehydration and extended hospital stay…

Here’s his latest video of bathing fun, and in addition to the amazing underwater kicking check out how much noise he’s making – more vocalizing than we’ve ever heard before :)

It turns out that Lucas is even happier than we are to be home.  After a somewhat rough night that had us wondering if we had brought Lucas home too early from the hospital — and nervous about when the fresh supply of oxygen would be delivered by the medical supply company in the morning — the little guy had a great day today.  He was awake for hours on end, wiggling around, massaging stuffed animals, watching the flying monkeys, and sucking on his chumpy (otherwise know as the pacifier).  The oxygen concern was all for naught as Lucas’s breathing pattern improved throughout the day and his oxygen saturation level has been near 100 % since the early morning, without any supplemental oxygen.  The puffiness he had from all the IV infusions and blood draws in the hospital is nearly gone, and even his poops are back to normal.

We’ll write more information and reflections on Lucas’s muscle disease in the days to come but for now we have to admit that we’re strangely giddy.  In fact, we can kinda relate with the emotion that Lucas appears to have when he stares up at the flying monkeys — dumbfounded with joy that such a miraculous thing actually exists, marveling at the brilliant motion as if witnessing the phenomenon again for the first time.   Such it is for us looking into Lucas’s wide eyes on a good day like today.