Lucas Camilo

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.