“I Will Love You Forever”

We are coming to a strange anniversary.

One year ago, things fell apart. What happened next – a hospital-free year with Julianna – has been beautiful and unexpected.

These days, I try to live in the present. Frankly, there is a lot that I don’t want to remember. There’s something about anniversaries, though, that demands reflection.

I wrote this letter one year ago. Most of it is copied below (italics), with updates and commentary in blue.  

This anniversary, we are celebrating how far we have come. We cannot take any of this for granted.

28 October 2014

Dear Friends,

 You may or may not know that Julianna was hospitalized almost 3 weeks ago for another respiratory problem. She is better now and will come home tomorrow.

 In 2014, Julianna spent 66 days in the hospital. This was her third PICU admission in ten months. We tried so hard to keep her out of the hospital, but it seemed like nothing was working.

  It has been a really difficult year for us. We have been in survival mode for at least the last year and have thus been largely non-communicative – even with our closest friends and family. We need your support, though, so we wanted to start by letting you know what we are facing. 

For a long time, we kept everything to ourselves. It was too painful to put our reality into words. This e-mail was one of our first attempts at letting others in.

 Julianna turned 4 in August. She is a bright, kind, funny and amazing girl who happens to have an awful, debilitating neuromuscular disease. The worst part of her disease is that it affects her breathing and swallowing – these are the things that ultimately shorten lifespan in people with neuromuscular disease. 

I recognized these signs before anyone else. It’s the double-edged sword of being a physician and mother. I struggled mightily against this knowledge. I told myself that I was being paranoid — maybe J wasn’t getting better because I was too pessimistic. It was easier to blame myself than to admit that J’s disease was really, really bad.

 We have come to the awful realization that Julianna will not live as long as we want.

 It was devastating, getting to this point. Once acknowledged, there was new pain, but also freedom. When you’ve come to terms with your worst fear, it loses some of its power. I’m still afraid of what is to come, but it no longer paralyzes me. We are on borrowed time, and it can’t be wasted on fear.

We don’t know how much time we have with her – it could be months, it could be years.

 Still true. I didn’t think that we’d make it through the winter, and now we are facing our second. She is so fragile. But maybe we can do it again – God willing.

If you have been around Julianna, you know that she is one of those kids – her spirit is incredible and resilient, and she is wise beyond her years while being delightful and funny at the same time. She is exceptional. I have struggled with this as well – b/c it always seems that the children who face the most serious illnesses are also the most special. If I had my choice, she would be more ordinary – and we would be able to see her grow up.

I have come a long way in accepting what I cannot change. The same God who made Julianna bright and lovely also allowed her to have a cruel disease. I believe that children who are asked to endure serious illness are given strength that the rest of us cannot understand. They are special. I think it’s God’s way of saying “I’ve got this. Just follow her lead.” So I follow.

Things are complicated here. It’s not an easy time for us but we are trying to trust God. It’s the only way.

 Amen!

Please keep us in prayer.

Love,

Michelle and Steve

 Prayer has given us this beautiful year. When I wrote this letter, I could not have imagined that I’d still be sitting here tonight, by Julianna’s bed, waiting for her to fall asleep.

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Oct 2014 

Last night, I gave her one last hug as I tucked her in.

J: I will love you forever.

M: I will love you forever.

J: I will always be your baby.

M: And I will always be your mom.

J: Not when we die…

M: Yes, even when we die.

J: Mom, will you miss me when I die?

M: Oh, Julianna. I nod.

J: I don’t want you to be sad. I want to give you flowers so that you remember me.

M: Julianna – it could be a long time – you’ve done so well. Do you worry about dying?

J: Nods. Sometimes. I’m used to things here. I’m not used to dying.

M: Of course not. No one is. We only die once. Sweetie, I don’t want you to worry about it.

And we prayed. Prayed that she doesn’t ever get sick again, and that she won’t be afraid of anything. I thanked God for the joy that she brings and told Him how much we love her.

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June 2015. Photo by Aubrie LeGault, Capturing Grace Photography

I stayed there, kneeling by her bed until she fell asleep.

“God Says Julianna is Not Tired”

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Sept 2015 – FaceTime with Kindergarten class.

Sometimes her one-liners are lectures.

Oct 2015

Fall mornings can be a bit rushed. After her respiratory treatment, she gets dressed and does FaceTime with her kindergarten class. This morning, Grandma is doing her best to get dressed in time for circle time.  It’s apparently not fast enough for J.

J: I need bottoms. Do you know anything about modesty?

Patience is not J’s thing. 

March 2015

I’m getting J ready for bed, and she keeps asking for a toy. I ask her to be patient.

J: I don’t like patient.

M: why?

J: It’s boring.

M: But God wants you to be patient.

J: Don’t worry. It’s still boring!

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age 2

J is very thorough.

Oct 2015

J has been playing with her toy nativity scene. She knows about the wise men with their frankincense and myrrh. Her amazing nurse (the same one who helped her fly a kite) somehow produces real frankincense and myrrh and presents it to Julianna. She just happened to get it from a monastery in Eastern Europe. Impressive, right?

J: Where’s the gold?

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Oct 2015- J with her nativity scene.

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Wise men with frankincense and myrrh. J decided that the gold top on the myrrh bottle was sufficient.

Bedtime is also not Julianna’s thing. 

March 2015

Just before bedtime, J asks for a sip of water. I am reluctant because I’m afraid that she’ll choke. She persuades me, takes a sip and chokes. I feel awful. J insists that she’s OK.

We move on to bedtime prayer. At the end, she says:

J: Julianna is OK even though she choked. Tell God.

M: Ok. If you say it’s OK, , it’s OK.

J: God helps everyone. He tells everyone the truth.

M: You’re right.

J: God said Julianna is not tired.

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Jan 2015. Never tired.

Manners are important. 

April 2015

Bedtime with J. I’m on my laptop ordering a Mother’s Day present.

J: Mom, can you exercise my legs?

M: OK, can you hold on a minute while I order something for Homie?

J: Not order. You have to say please.

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Summer 2015. Leg exercises

J’s dream

May 2015 – Julianna tells me about her dream

J: I’m big, I can walk and I tell people what to do.

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Bossy is beautiful.

“Play!”: The Importance of Art, Kite and Dress-Up Therapy

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This drawing looks like an illustration from a children’s picture book: the spunky heroine scores the perfect pair of shoes! Some may wonder why shoe shopping would be part of a children’s story. A bit materialistic? And what’s all that stuff on the girl’s head?

The girl in the story is wearing feathers and bows in her hair. Why not? There’s a tiara too, because she is unapologetically 100% princess. She is enjoying a day out with her grandmother.

The illustrator is our talented friend, Christine. The storyteller is Julianna — of course!

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Oct 2015. Christine and Captain J.

In real life, Julianna has never worn a pair of “normal” shoes. She has a terminal neuromuscular disease and hasn’t stood for over a year. She also cannot breathe on her own and wears a mask that forces air into her lungs every minute of every day. As a result, she rarely leaves the house or even her room.

Julianna’s mind is as sharp as her muscles are weak. She is happy almost all of the time, but she knows what she is missing. She knows there’s a world outside of our doors and she remembers when she was able to go out into it.

A few times, we have had this conversation:

J: I don’t feel like I have a life.

M: What??

J: I don’t go anywhere. I don’t do anything.

Heart sinking, I explain all the reasons why we can’t get her out of the house more and I promise to try harder. There’s no condemnation in her words, though. They are simple, stated fact. She already knows, and she accepts. But she wishes that it were different.

With her imagination, it is different. Her brain is always going and going and going (her words), and it takes her on fantastic adventures. In this story, she and Homie go on a shopping spree. They buy shoes and chandeliers. They eat at Red Robin and see a movie. The Julianna in this story doesn’t need five different pillows and a special positioning device to sit up. There are no feeding tubes or BiPAP. Anything is possible.

This drawing, see, is not just a cute picture.  It is just as important as the medications and treatments. The medical stuff sustains her life. This helps make it worth living.

These days, Julianna’s most frequent request is “Play!” She gets through uncomfortable respiratory treatments if we play. She wants to sit up even though it’s getting more and more difficult because it’s easier to play. So we play and draw and we sing and dance. Julianna’s imagination is infinitely more powerful than her disease, and she is surrounded by people who let it soar.

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Sept 2015. If you look close, Julianna is actually flying the kite. Her wonderful nurse somehow found a way to make it work. Another wonderful nurse (from her PICU days) gave her the kite. When she saw this photo, she said “It traveled from China to fly in J’s little hands.”

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Oct 2015. Pillowcase + ribbon = mermaid, Fancy Nancy style. Another creation by J’s talented nurse.

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Oct 2015. This week, J had a picnic with Anna. J: “Will we see wild animals? No dinosaurs, I hope.”

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.

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NCS

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