Twins Against CMD

By Anonymous

We have twin two-and-a-half year-old daughters who were diagnosed with Merosin Deficient Muscular Dystrophy (MDC1A) when they were eight months old. Neither of us has any family history of neuromuscular problems so this was a big shock to us; new parents, in a new city, in a down economy, etc.  We’ve accumulated a lot of hard-fought lessons from the CMD battlefield–most importantly, how their digestive health and their respiratory health are so intertwined.

When our twin daughters were newborns, both drank 20-30 oz of formula and 2-3 oz (stage 1-3) of baby foods per day, so we resisted medical intervention for as long as we could.  Our philosophy has always been “less is more” — less invasive, less medical, and as natural and “normal” as possible.

At around four months, however, one of our daughters absolutely needed an NG tube because she wasn’t able to gain weight consistently.  Both girls developed “episodes” of coughing and spitting up due to gas from an incorrect swallow caused by the CMD.  Both girls had NG tubes from ages 1-2, and despite our best efforts to ween them off of the NGs back to the formula/baby food diet, by age two, both girls had G tubes and were on elemental formula to help them absorb more calories with less volume.

The girls have had significant problems with both NG and G-tubes, due to problems with the venting of gas.  With the G-tubes, the girls specifically need to be turned on their left sides while lying down or on our laps while we vent the gas with an open 60cc syringe.  We’ve held off on getting Mic-Keys in favor of the 14-french to enable frequent venting.  This gas must be vented to prevent de-sating, vomiting, and aspiration, and it’s become a big factor in the girls’ care.

When the girls developed pollen allergies just before age two, we entered a very difficult period of mucus-related problems.  Without the normal ability to blow their noses, cough, spit and otherwise mobilize their secretions, the girls run a very real risk of aspiration due to suffocating in their secretions.  The girls’ mucus output was between 2/3 and 3/4 cup per girl every morning and more throughout the day.  The thick mucus trapped gas in the girls’ stomachs like bubbles in syrup, causing them great discomfort and respiratory distress, de-sating, coughing, vomiting, etc.

We began pulling out their stomach contents through their G-tubes throughout the day and during bolus feeds in order to sift the contents with a tea strainer.  Some doctors were amazed at how much mucus there was.  Others thought this was normal and that they should digest it just fine.  We thought that was silly and would nauseate and make ill even an able-bodied person, let alone little girls with CMD.   We encountered many doctors during this period who insisted that this was acid reflux.  But repeated (and unnecessary) UGIs and swallow tests confirmed that this was not the case.  They suggested/prescribed many things like Nasonex, Mucinex (to thin the mucus), and various over-the-counter treatments like Benadryl–none of which worked.

As it turned out, our daughters had undiagnosed pneumonia for several months before ultimately catching human metapneumovirus (a cold) and ending up in the hospital.  During this hospitalization, the girls were diagnosed with having pollen allergies and received Astelin spray which has truly worked wonders.  The girls’ mucus problem is much more manageable now and their venting, while still frequent, is much easier and less disruptive with the absence of so much mucus.

We’ve also learned that putting the girls on their backs helps tremendously when they’re coughing.  We discovered this accidentally when no amount of venting, Cough Assist, Vest or nebulizer treatments worked.  We saw many raised eyebrows among doctors and medical professionals we explained this to.  It was a relief when a pulmonologist explained to us that this was often a successful approach in the case of children with neuromuscular diseases.

When the girls are healthy, they do 20 cycles in four sets of five on their Cough Assist 2-3x daily.  They spend 20 min in the Vest 1-2x daily and they both get nebulizer treatments of Albuterol (Xopanex) and Budesonide 2-3x daily.  When they’re sick or fighting sickness, we do all this but at greater frequency and also suction their noses and throats with a Devilbiss and Red Robbin suction catheters.  We keep track of their blood sats with portable pulse-oximeters.  And if their sats are too low, we help them over the hump with a liter or two of oxygen (generally at night) either from a tank or a concentrator.  If the hump takes more than a day or so, we consider taking them to the hospital.

In the hospital, we do all the above at much greater frequency.  At the most rigorous, the girls were Queue 2 (every two hours with an hour treatment and an hour off), around the clock, for days.  In the hospital, nobody values sleep and they interrupt you every 20 minutes to poke, prod, weigh, etc.  It’s truly maddening living in the hospital for long periods of time and we try our best to stay out of there and appreciate the good days.

We learned that soft Red Robin catheters are key to effective suctioning.  They don’t tear up the nasal passage the way the clear suctions do.  Also, not every respiratory tech is well practiced at this procedure.  We’ve had to become experts ourselves at giving the girls deep nasal suctioning. While we generally let the RTs at the hospital suction, if we have doubts about their level of experience or technique, we jump in and do it ourselves.  Also, sterile lube and sterile gloves are a must.  You’d be surprised at how many RTs decline to use either.

We’ve also encountered overzealous medical professionals who want to do marathon suctioning sessions.  Too much suctioning can inflame the nasal passages and actually make the problem worse.  We’ve actually found that the girls go into asthma attacks that doctors can dismiss as mucus.  In these situations, the girls didn’t need more suctioning.  They needed more Xopenex or Albuteral.  We’ve had to advocate for the girls at times like this, which has sometimes put us at odds with some well-meaning but misinformed health professionals in the PICU.  It’s neither fun nor easy!  When the girls are really sick, they actually need adult doses of Xopenex. (Once they are feeling better, we go back to their normal doses.)  Also, while in the PICU with pneumonia, we found that using higher-than-usual settings on the bipap helped the girls recover faster.  We even used the Bipap in-between the Cough Assist to prevent de-saturation.

When the girls are asleep we put them on BiPap.  Knowing the right settings is important to ensure that they fully rest at night.  Our girls are at risk for retaining CO2, and one of our daughters also has sleep apnea.  Now that they are on higher settings, they sleep really well, only waking a couple of times a night to have their G-tubes vented.

While very expensive, our pulmonologist also said that elemental formulas like Elecare are the best for kids like ours because they aren’t as taxing on their digestion.  This is key because if they have lots of gas, they’re going to desat.

This is all accumulated knowledge from several lengthy hospital stays of between 3-6 weeks, as well as many, many doctor appointments and interactions with various nurses and respiratory specialists.

As a matter of empathy, I’ve personally tried everything myself (Cough Assist, Vest, NG tube) – except for the deep nasal suctioning – and I can say that none of it is easy or fun.  And in the wrong, inexperienced, or indifferent hands, it can be downright torturous.  NG tubes really are nasty little things and deep nasal suctioning is basically just like that, only worse because there’s a vacuum at the other end of it.  Cough Assist basically feels like getting the wind knocked out of you, then re-inflated, over and over again.  It’s a very intense experience, but it’s absolutely worth it and is one of the most effective respiratory treatments we’ve used on the girls.  The vest can be gruelingly annoying, loud, and irritating to the G-tube site as well as just generally irritating to everyone involved in the treatment.  However, as with all this stuff, we’ve learned to accept these therapies as necessary evils to help combat the really true evil here, muscular dystrophy.

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  • Congenital Muscular Dystrophy

    A group of diseases causing muscle weakness at birth. Several defined genetic mutations cause muscles to break down faster than they can repair or grow. A child with CMD may have various neurological or physical impairments. Some children never gain the ability to walk, while others lose the ability as they grow older. Learn more...

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