“Mom, I’m OK.”

This clip is from February 2013. Julianna was two, and she had just gone through her first PICU admission for respiratory failure a few weeks prior. It was “only” eleven days (and the mildest of all her PICU admissions) but it was my introduction to hell on earth.

A few hours before this clip was taken, Julianna had woken up with a runny nose. It was nothing — but in our new world, it was terrifying. The trauma of the PICU was fresh, and I was afraid. Should I stay home from work so that I could watch her like a hawk and worry more thoroughly?

My mom was visiting at the time and told me to go – she’d watch Julianna, and it would be fine. She sent the “I’m OK” clip later that day to reassure me.

Julianna ended up getting sick again. I couldn’t believe it – again? Couldn’t we get a break? Why did a two-year-old have to go through something like this? It was not OK.

Fortunately, she wasn’t hospital sick this time. We went through some scary, sleepless nights, but she recovered. So it was OK — in the end.

And that’s the way it is: not OK, but ultimately…OK. Not OK that Julianna has suffered and lost (and she knows it). OK, because she acts like it doesn’t matter. Not OK that a child has to be stoic for her mother. OK (and such a blessing) that she has taught me to worry less and live more.

Take this as an example:

J: Can we visit Ellie?

M: She lives really far away, sweetie. I don’t think so.

J: But we can go on an airplane…

M: It’s a little hard for you to go on an airplane now, Julianna. I’m sorry, but I don’t think we can do it.

J: Because of my mask?

M: Yes.

J: I wish I didn’t have to have my mask.

M: I know.

J: So will you and Daddy and Alex go?

M: And leave you here? No way. Do you really think we would do that?

J: shakes her head

M: I’m sorry we can’t go on trips. I wish we could take you places…

J: I have problems, but I’m OK.

M: Oh Julianna…we all have problems. Do you feel bad about it?

J: No. I’m OK…whispers. Let me tell you something

M: I lean in. OK – what?

J: whispering: let’s trick the CMT and give it poison. And then it will go away.

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Dec 2013 — J’s last airplane trip.

 

 

I have problems, but I’m OK.

Tell me, how do I respond to this with anything other than abject humility and the promise to try, to never lose hope? I have to be OK too, for her and because of her.

Today, she tells me that she’s OK in the softest of voices (the softest it’s ever been.) It’s in her silent laugh, and in the way she insists on playing even though it’s getting harder to sit up (“Body break, schmody break,” she said yesterday.)

It’s OK, though, one day, it will be so very wrong.

Ultimately — in the end — it will be OK.

This is from April 2014. Julianna had just spent two weeks in the PICU and was finally home. Alex had decided to welcome her back by decorating the house with streamers and balloons, and this is J’s first look. Her voice (much stronger than it is today) was weak from the hospitalization, so it’s hard to understand:

The words don’t matter. The look on her face says it all:  pure joy, loud and clear. After another hard battle and heartbreak, things were OK again.

Pictures from the week:

J was determined not to be pinched.

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Enjoying the view with a few dozen friends.

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Selfie

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Maseratis and Lambs (aka Respiratory Treatments)

People who have visited our home are usually surprised to see all the things we have to do to keep Julianna healthy and – let’s face it — alive. It is a labor of love, and I am grateful for every day that we are allowed to take care of J.

This is the first in a series of posts that details Julianna’s medical equipment and care.

Respiratory Treatments:

Every time you cough or clear your throat, you are performing “pulmonary toilet”. This clears stuff (secretions, mucous, germs – J calls it “junk”) from your airway, and it is a vital function.

Julianna has lost virtually all ability to do this for herself. We do these treatments twice a day to help keep her lungs clear.

Nebulizer:

If you’ve ever had an asthma attack, you are probably familiar with neb treatments. These are machines that deliver medication to lungs via small droplets. Traditional nebs take about twenty minutes and are loud.IMG_2144

We have an Aeroneb, a hospital grade nebulizer that delivers medication through her BiPAP tubing. It’s fast (6 minutes per neb) and silent.

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The Aeroneb is my favorite piece of medical equipment. It’s like a Maserati. The regular nebulizer is like Tico, the $150 car I drove in Korea.

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In my previous life. Tico — on the ROK!

Julianna gets albuterol mixed with hypertonic (7%) saline. The albuterol opens the airways, and the 7% saline thins the secretions. (Normal salt content in body fluids is 0.9%.) 7% saline inhaled into the lungs can be incredibly irritating. J handles this like a champ.

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Concentrated albuterol (bottle) & 7% NaCl ampule

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J is getting her neb. If you look closely, you can see the salty stream coming out of her mask.

Nasal Suction:

After the neb is done, she gets the “booger sucker.” A separate attachment lets us do oral suction. We never know when this will be needed, so the suction machine goes with her everywhere.

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The Vest:

Next is the “bumpy vest.” This machine is basically a compressor. Julianna wears a vest (pink, of course) that connects to the machine by two hoses. The vest has an internal “bladder” which inflates and deflates very quickly (8 to 12 times per second). This percusses the chest wall and also helps thin secretions.

The vest can be difficult for Julianna. We think that it’s gotten more uncomfortable because of worsening scoliosis. She does 10 minutes twice daily now, and we usually have to take a lot of breaks.

To get her through, we sometimes pretend that she is a baby lamb.

J: Baaaaa!

Me: That’s a good baby lambie…

J: Thank you

Cough Assist:

If you have ever strained a rib muscle with violent coughing, you know that we are able to generate an enormous amount of pressure with a cough. Without the ability to cough, junk stays in our lungs. This machine simulates a cough – it pushes in air and sucks it back out.

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J doing her coughs. It’s a lot of pressure going into her little mouth and nose.

Oxygen:

Julianna is BiPAP dependent, but she doesn’t require extra oxygen when she isn’t sick. When she does get sick, she needs BiPAP plus extra oxygen “bled into” the line. Tucked away in her princess closet, we have a massive oxygen tank and concentrator.

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Respiratory treatment with Grandma.

“I Can’t Walk, but I Can Talk” — CMT simplified

When people ask about what J “has”, I say “a severe neuromuscular disease.” I don’t mean to be vague, but it’s complicated. This is my attempt to make it simple.

The Big Picture

I can’t walk, but I can talk.

— Julianna, age 4

Julianna resembles a 5 year old with ALS (Lou Gehrig’s disease). She has progressive, profound weakness, but her cognition is unaffected.

The Disease: Charcot-Marie-Tooth

Julianna’s disease has a PR problem. With apologies to Drs. Charcot, Marie and Tooth, the name is awful. No one knows what it means, it’s cumbersome to spell and it suggests a dental issue. And the acronym? Try googling “CMT” – you have to get to the third page before you get something other than country music.

Sept 2015. CMT on CMT. After all, J was born in Texas...

Sept 2015. CMT on CMT. After all, J was born in Texas…

This is CMT in a nutshell.

  • Charcot-Marie-Tooth is named after 3 neurologists who first described the disease in the 1880’s.
  • It is a hereditary neuropathy.
  • Neuropathy means that there is a problem with the peripheral nerves.
  • What are peripheral nerves? Your brain and spinal cord make up the central nervous system. Everything outside of this is the peripheral nervous system. Nerve roots come out of the spinal cord (when those get squished, they cause a “pinched nerve” in the neck or back.). The nerve roots branch and branch and branch. They go all the way to the toes and the fingertips. These are the peripheral nerves.
  • Problems with the peripheral nerves can cause sensory changes (i.e., numbness, tingling, pain) or weakness – or both.
  • There are over 70 identified forms of CMT, and new ones are being discovered every year. This is because a lot of different genes code for our peripheral nerves.
  • CMT can be diagnosed with a blood test – sometimes. Commercial gene testing exists for a few dozen types. Research labs are working on identifying rare or new types.
  • Treatment for CMT is supportive – meaning, you treat the symptoms but cannot cure or stop the disease.
  • CMT can be funny. Sometimes it is really mild in one generation, and really severe in another. Which brings us to…

Our Diagnosis

This is Steve’s foot. I always thought that his feet were funny looking.

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Steve has high arches, which is a sign of peripheral neuropathy. Steve is active and athletic, so I had no reason to suspect a problem until we started searching for J’s diagnosis.

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Spring 2012. At around 18 months, J could walk short distances in a walker.

One afternoon when J was almost 18 months, I decided to check Steve’s reflexes. His arm and knee reflexes were normal. I checked the ankles, and they were – not there. This was definitely not normal. Decreased or absent deep tendon reflexes are another sign of peripheral neuropathy.

I think that this was the moment I knew. For months, I had been thinking of things that would cause J’s symptoms. CMT was on the short list, but there was no known family history.

A few days later, I brought Steve into my office and did a quick nerve conduction study (NCS). This is not the most fun test : electrodes are placed on the legs and arms, and some pretty big shocks are delivered. It measures the speed and size (amplitude) of nerve conduction.

NCS

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In the legs, nerve impulses should travel at least 40 m/s. Steve’s nerve conduction in the legs was not recordable.

In the arms, nerve impulses should travel at least 50 m/s. Steve’s nerve conduction velocities were in the 20’s.

If there was any doubt before, it was gone at that moment. Steve had CMT. Julianna must have it too.

Things came together pretty quickly after that. I took Julianna to a pediatric neurologist. Her NCS showed velocities of about 10 m/s in the arms. She and Steve had genetic testing done for the most common mutations that cause CMT – it was negative.

As mentioned, commercial gene testing only identifies the most common types of CMT. Shortly after Julianna turned two, we visited Dr. Michael Shy, a CMT expert, in Iowa. His team helps find new and rare cases. They suspect that Steve passed on a gene mutation that causes very mild disease. Julianna probably has a second mutation that makes her disease severe.

For the last three years, researchers around the world have been trying to figure out what gene mutation(s) have caused Julianna’s disease. They have some ideas, but nothing definite. Like I said, it’s complicated.

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June 2015. Photo by Aubrie LeGault, Capturing Grace Photography