Lucas Camilo

We woke up this morning preparing to argue with the doctors about why Lucas was REALLY ready to go home, but by the time they came to his room on rounds he was looking good enough that we didn’t need to do any convincing.  Discharge takes awhile, with papers to fill out and home arrangements to coordinate, but we were able to leave the hospital by early afternoon.  It’s funny that after all the commotion about Lucas’s perplexing, death-defying sodium levels – not to mention his likely diagnosis – the only thing new we came home with was a recipe for adding salt water to his breast milk.

At any rate, we’re writing this post triumphantly, but exhausted… from home!  Lucas took a few minutes to readjust to his home environment, wiggling and crying and turning pale, but then settled in to a deep afternoon nap.  Meanwhile, we’re looking forward to sleeping in a bed and relishing the ability to do whatever seems best for Lucas without having to get permission from a ladder of medical hierarchy.  It is so good to be home.

After clicking “publish” the other day on what was one of the more difficult posts we’ve written since starting Lucas’s blog, we thought about the gradual stream of people who would receive the news about Lucas’s disease.  We imagined some people crying, some staring at the screen in disbelief, others feeling a strange sort of relief about our discovery, others immediately googling “myotubular myopathy” and wanting to find out every piece of information they could about the disease that Lucas most likely has.  We didn’t imagine people feeling despair or pity; rather, we imagined a giant groundswell of love directed towards Lucas and us.  This is what has come through in your messages and for that we are grateful.

Lucas is still in the hospital since he hasn’t stabilized 100% and because the second all-out blizzard in the last week is blowing through DC as we write this.  We still can’t wait to get him home, and we are certainly getting sick of some of the routine around the hospital, but we also can’t help but be a bit calmed by the reality of riding out the storm with lots qualified people on hand.  Lucas has had some ups and downs since we last wrote but right now he’s happily snoozing in mommy’s arms having recently finished a session of playing with his new friend Jonnie the Moose (she’s actually a helium balloon).  He cringed when he heard that they were going to take more blood for another lab, but we assured him that the DNA test for Myotubular Myopathy was much preferable to undergoing a muscle biopsy.

As for his parents, we’ve had some tough moments over the last few days but some good ones as well: sitting up late into the night talking about children with special needs with a wonderful nurse who’s son grew up deaf; giving Lucas a warm sponge bath as he repeatedly squinted up at us with his new “badger face” (a result, perhaps, of some puffiness in his arms, legs and face); and eating a home cooked meal with our friends Max, Jess and Sha who trudged over to Children’s as the snow began to fall last night.  We’ve cried some, mostly those good tears that come from love, grief, and the reassurance that you’re damn lucky to feel that love in the first place.  Those tears will keep coming, as will laughter and humor.  In fact, we’ve cracked ourselves up more than you probably would have imagined the last few days, silly jokes that emerge after spending way too much time in the hospital (see the picture of Lucas in the ER).  And we continue to feel gratitude for the extraordinary family and friends that make up Lucas’s loving community.

Lucas will be discharged tomorrow morning from Children’s and hopefully we’ll make it safely home before the next big snowstorm hits in the afternoon.  He’s pretty much back to his old self, but there’s still a few things that are weird, such as an occasionally high heart rate, some residual swelling, and a new, goofy eye twitch.  There’s so much going on with him sometimes that it’s hard to know what is significant and what isn’t, but we’re confident along with the doctors that he’s ready to come home.

As promised, we’ve taken advantage of our days in the pediatric ICU to access all the specialists that might be able to help tackle Lucas’s broader challenges, and through the various consults and tests over the last week we may finally have an answer.  It’s not something that’s easy to share but we know that many of you reading this right now have followed Lucas’s progress from his early days of life and so it’s important for to us to explain the new information.  This morning Lucas underwent an electronic test of the muscles that confirmed that he has a congenital muscle disease, most likely a genetic disorder called Myotubular Myopathy.  It’s devastating news – hard to even write these words – but based on our own research over the weekend we’re convinced he will ultimately be diagnosed with this particular disease.

Like us, you probably have lots of questions about what this means for Lucas and we won’t try to answer them all right now.   Many thoughts have been going through our minds over the last few days and it’s impossible to sort through them when the realization is still so raw.  In some ways the news wasn’t a total shock: Lucas’s hypotonia has improved very slowly since he was born and we had begun to doubt the theory that a brain injury alone had caused his low muscle tone.  Upon seeing Lucas the other day, the neuromuscular doctor quickly confirmed our fears, and the conversations we’ve had with this thoughtful, humble man over the past few days have helped begin our process of understanding Lucas’s disease.

Mytobular Myopathy is a very rare muscular disorder that affects approximately 1 in every 50,000 boys.  It is not degenerative like most muscle diseases, but nor is there a cure or treatment for it.  Lucas may gain some strength and muscle tone in the months and years to come (especially with the help of therapy), but he will likely always need assistive technology to breathe, move from place to place, and communicate with the outside world.  Research on this disease only really began in the 1990s; prior to that, it was assumed that anyone with Myotubular Myopothy would die in infancy.  Since then some boys have survived into their teenage years, and some attend school – unlike some muscular diseases it does not affect cognition, and intelligence levels for those who survive tend to be high.

Right now, Lucas’s future remains very much unknown, but we can say this:  Lucas hasn’t changed, just the information we know about him has changed.  He’s still the same beautiful, little fighter that we’ve been lucky enough to know and love over the last five and a half months.  He has already taught us so much.  We will continue to experience great joy together as a family.  And we can’t wait to have him home again.

Lucas is doing better, and he’s scheduled for discharge tomorrow.  But that’s only if we can get out of the hospital and drive the short distance home.  The blizzard was indeed serious, and with over 100,000 people in the DC region without power we actually found ourselves being happy to be snowed into the hospital.  Our view from the third floor was incredible — we watched as the snow started, as the winds picked up, and as the many snow plows dedicated to the hospital perimeter tried in vain to keep the roadways cleared.  Fortunately the snow stopped last night and this morning Krista and Burke got out for a walk in the glorious winter wonderland.  Lucas isn’t much of a cold-weather fan, so he was fine with seeing the pictures when we got back.

Lucas’s electrolyte levels seem to be balancing out, but there is still no convincing explanation for how his sodium got so low.  What is reassuring is that he’s maintaining normal levels by getting a little salt added to his milk.  The tests so far so that Lucas’s are kidneys function well, so if he does have a problem retaining sodium then his kidneys should help him make the decline a very slow one.  In the months to come we’ll get his sodium tested regularly and see what happens over time.

It has been wonderful to have our wide-eyed Lucas back.  His nurse noticed that he was looking expectantly overhead (missing his flying monkeys at home) and she found some black and white stuffed birds to hang from the lamp above him.  Yesterday he was still pretty lethargic, but today he’s been awake and gazing lovingly at the birds… and at his parents.  We’re thrilled.

The reservoir outside Children's

Lucas’s sodium level continues to stabilize but the mystery of how it got so low has yet to be solved.  We spent the afternoon talking to a slew of specialists – the regular PICU fellows, residents and attending physician, two nefrologists (kidney doctors), a geneticist, the GI doctor, and an endocrinologist (a doctor that studies hormones and glands).  We’ll spare the details for now, but we’re all working hard to explore different possibilities for what happened to Lucas, and we’re confident there will be a conclusion soon enough.

In the meantime, the many blood tests have taken a toll on Lucas, making his red cell count low, and therefore he needed a blood transfusion last night.  Neither of us was able to give blood because of a trip we took to southern Colombia last year so he got the blood from another donor, but it reminded us that giving blood is an important thing to do.  So if you’re thinking about Lucas sometime in the next week then stop by a blood bank, and if you’re in DC then come to Children’s and specify that your donation is for Lucas in case he needs another transfusion in the near future (it will go to other children if it turns out that he doesn’t need it).

Should Lucas remain stable he’ll be ready to come home on Sunday or Monday which would be nice since the chairs in his room aren’t the best place to sleep. (Last night was our first at home since Monday and we actually slept.)  We’re packing up for the weekend, preparing for the “big storm” that’s about to hit DC – it’s supposed to snow 3 inches an hour starting midday today and build up over 2 feet.  So even if Lucas is ready to go sooner we won’t be living at the hospital for at least a few days…

Fianlly, we want to thank everyone for your messages and comments!  As usual it helps lift our spirits and we’re hoping to be able to continue writing and checking the blog in the hospital (it’s tough to access the internet there.)  Thanks too for pointing out that we shouldn’t be hard on ourselves.  In fact, the comment in the last post about being “stupid” was our attempt at irony since in reality there’s no way we could have known that Lucas’s sodium level had become dangerously low.  But it’s good to hear the affirmation that we’re doing all we can for Lucas and of course we’ll keep doing all we can in the days to come.

Lucas’s return to the ICU has brought new challenges and mysteries for an already enigmatic little guy.  In turns out that the level of sodium measured in Lucas’s blood Tuesday night in the ER was astonishingly low; in fact, a number of doctors have mentioned that they’ve never seen a human with such low sodium (or “hyponatremia”) who didn’t go into seizures.  It wasn’t until yesterday afternoon that we realized how serious his condition was – the ER doctor hadn’t seemed very concerned when he told us that Lucas was going to need sodium supplements through an IV – and with that understanding came the realization that Lucas will probably be in the hospital for more than the 2 days we originally projected.

On Tuesday night Lucas’s sodium level was 104 milliequivalents per liter; the normal level is 135-140, and anything under 125 is considered very low.   Since then the level has been climbing slowly and this morning we were relieved to hear that it was up to 129 meaning that he’s almost back to normal.  The question of why he became hyponatremic in the first place remains a mystery.  It turns out that according to the urine and blood cultures Lucas probably didn’t have a UTI when he came into the hospital, and vomiting 10-20 ml of the nearly 700 ml of milk he consumes a day is not enough to cause severe dehydration (which could in turn lead to low sodium levels).  More specialists will visit in the next few days as the try to get to the bottom of Lucas’s latest mystery.  The two of us have developed our own theories from Krista’s Anatomy and Physiology book along with some google research and we’re testing them out on the doctors, keeping up with them in conversations around whether the sodium imbalance is related to kidneys, hormones, brain injury, nutrition… or none of the above.  (Incidentally, we apologize for using such technical medical terms sometimes but that’s what a couple days in an ICU will do to you.)

Regardless of the reason, the docs want to keep him in the hospital a few days – even after he stabilizes, is taken off the IV, and returns to normal feeds – in order to make sure that his sodium doesn’t drop precipitously once again.  It’s tough to imagine how long this may have been occurring.  Certainly hyponatremia is not something you read about in “Caring for Your Newborn”, and besides, there’s no part of our home arsenal of machines that includes a way to measure sodium levels.  However, in going back through Lucas’s NICU discharge papers we remembered that he measured low electrolyte levels a few times (in particular sodium) and that the doctors had various hypotheses about why this was the case (we tried to hunt down our favorite neonatologist yesterday to talk to him more about it).  So maybe we should have investigated the possibility of low sodium when Lucas began vomiting a couple weeks ago.  Indeed, it may be that he’s been hyponatremic for weeks and that the vomiting was a result, and not cause, of low sodium levels.  How could we have been so stupid!?!

But seriously, with Lucas back in the hospital we haven’t been getting much sleep, and there have once again been tough decisions to make about his treatment, sometimes with no clear answers.  The hardest thing has been watching the nurses and doctors try to establish “access” to his system via an IV or central line.  Lucas has small veins and arteries to begin with but the hyponatremia exacerbates the problem and makes it difficult for even the steadiest hand to get a line into his bloodstream.  We watched for hours on Tuesday as overconfident pros tried to get a basic IV in Lucas (a young nurse who we looked at and doubted ended up getting the job done) and then struggled to see the doctors fail repeatedly at inserting a “central line” yesterday, which would have provided more secure access to the bloodstream.  At midnight as they geared up to poke his jugular we grilled them about whether it was really necessary, and they eventually convinced us that it was.  The doctors then tried and failed for over an hour until it was too much to bear and we told them to please let him rest.  As it happened, his sodium level stabilized overnight without the central line and this morning they announced that it would no longer be necessary.  We try not feel resentment towards them for the little scars on his neck and for the trauma he must have felt despite the sedation, but it’s hard.  Such is life back in the hospital.

As hard as it is, we are also not losing sight of the potential for good things to come of this hospitalization.  It is possible that the low sodium is an isolated problem, but it’s also possible that it gives us another piece to the overall puzzle of Lucas’s hypotonia.  Which leaves room for the small hope that we could find a diagnosis we hadn’t looked for before.  So we’re going to take advantage of being surrounded by smart people at the hospital — who we’d usually have to wait months to get an appointment with — and grill everyone who passes near our room.

After a few days of increased vomiting we finally decided to bring Lucas into the Children’s ER last night and sure enough, the vomiting had taken its toll. Blood tests showed that his electrolyte levels were low – in particular the sodium level – so Lucas was admitted to the PICU (pediatric intensive care unit) at about midnight.

We spent the night with him in his room and only late this morning did Burke slip out to pick up things at home (and write this post.)  Lucas is doing ok, not too happy to be back in the hospital but tolerating it like the little trooper that he is.  If all goes well they’ll have his sodium level back up where it should be in a few days and we’ll get to go home.  In the meantime, hopefully the doctors can figure out why he’s been puking in the first place since the low electrolytes are likely just a result of the increased vomiting over the last few days.  The leading candidate remains a urinary tract infection but it will be another day or so until the cultures come back with an answer.

Being back in the hospital is weird for us, certainly not as traumatic as the first time around – we’re vets by now, waving at friends in the hall and understanding most of the medical jargon the docs are throwing around (unlike most first-time ER parents) – but it’s no fun nonetheless.  Lucas is getting poked and prodded as much as he ever was in the NICU and we have a hard time watching it all.  It’s also difficult not to be in total control of his care as we are when he’s at home.  Still, whatever is ailing him appears not to be very serious and hopefully Lucas will be back comfy in his own crib by the weekend.  In the meantime we always like knowing that your thoughts, positive vibes and love are with us so don’t be afraid to make a comment on the blog or drop a line.  And we’ll update you on Lucas’s condition as soon as we know more.