Rare Disease Day – 2022

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By Michael

Today is Rare Disease Day.

Observed yearly, on the last day of February. To help raise awareness for rare diseases and to improve access to treatment and medical representation for individuals with rare diseases and their families.

A disease is considered rare in the United States when it affects fewer than 200,000 Americans.

Our son falls under this. His Arthrogryposis falls under that threshold, being it is a condition that occurs in 1 out of every 3,000 live births.

However, on April 5th of last year, a day after our baby boy turned 1-month-old, we found out what caused the Arthrogryposis. A condition that occurs in 1 out of every 50,000 live births.

On that day last year, through a Zoom call with a genetics team, we were told that our son’s genetic testing had come back. Because both his mother and I carry a particular recessive gene, he had a condition called Nemaline Myopathy.

Nemaline Myopathy is a rare genetic muscle disorder, which has many symptoms that can occur, including muscle weakness, hypoventilation, swallowing dysfunction, and impaired speech ability. The symptoms and their severity vary. People with Nemaline Myopathy (NM) usually experience delayed motor development or no motor development in severe cases. Weakness may occur in all the skeletal muscles, such as muscles in the arms, legs, torso, neck flexors, throat, and face.

I’ll be honest, that day and that call are a complete blur. We had barely been home for 3 weeks. Had just gotten back from our first trip to Greenville and the Shriners Children’s Greenville, and were now sitting on the couch looking at a laptop screen. On that screen were a group of doctors who were telling us about our son and using words like “fatal” and “quality of life”. I just remember trembling as I listened to the words. My head spinning and not even sure if I was going to be able to catch my next breath. It felt otherworldly. As if I was having an out-of-body experience and I was witnessing these events rather than being a part of them.

The news shook me to my core. It still does.

We decided then to only share this news with certain people. I’ve rarely ever referenced Harrison’s NM in my blog posts, here on FR or over on The Greene Affect, and never by name. The last time I referred to it was a few months ago when the doctors put him under anesthesia for the first time for his hip surgery last November. Worries of reactions to the medicine due to his NM was the big hurdle we got over that day.

One group of people I shared the news with were my co-workers. I was so shaken by everything; it took me a few days to compose myself and the words to share with them. Fortunately, I still had the note I wrote saved in my Notes app, (yay iCloud!) and thought I’d share it here because I wrote it when everything was still fresh. Plus, it sums up what we were facing back when Harrison was just a month old. I still remember having tears fill my eyes a few different times as I wrote these words:

Monday, we had a call with genetics, and they informed us that he has nemaline myopathy. The condition shows up around 1 in every 50,000 live births, and this is on top of the arthrogryposis, which is 1 in every 3,000 births.

It is caused by a recessive gene that his mom and I just both happen to carry. So any children we may have or considered having beyond HG would have a 25% chance of having this condition. They’re considering him having a more severe case of it because they feel it’s what brought about the arthrogryposis.

Up to this point, he has no other symptoms, but it can lead to muscle weakness, breathing issues, problems with swallowing, etc.

Right now, he’s eating well, breathing well, getting stronger, etc. We just have to keep watch, and we’re going to start monitoring his oxygen levels.

The scary stat that really punched us in the gut is that severe cases in infants have a 66% fatality rate in the first 2 years, but overall, this is a condition that he might show signs of tomorrow, 10 years from now, not have issues until he’s an adult, or he may never show signs of it. Again right now, if it wasn’t for the genetic testing, we’d have no idea he had this condition, or have any reason to suspect it.

So, for now, we’re maintaining the AMC treatments with Greenville, we’re going to start having at-home PT soon (they’re coming to evaluate him next week) and we’re going to have a swallow test before moving him to solids (which I think will be happening sooner rather than later, because the boy is always hungry!)

So, where have we come from those first few days in April?

When that note above was written, we had a follow-up with genetics scheduled when he was 6-months old. They canceled that and rescheduled it. We do not have our follow-up with genetics until April after he turns 1. So there have been no further discussions with genetics since that day. It’s been hard to not see this as some sign of positivity as I would like to think they’d be monitoring him more closely if they were overly concerned. Unfortunately with COVID, I don’t have the luxury of being so optimistic.

The breathing and oxygen monitoring was hardcore for a few months after this diagnosis. (I’ve had to hide monitors from my wife!) Thankfully, because of our visits to Greenville and Harrison already having a few procedures done, we’ve been able to see his oxygen monitored by hospital equipment while he’s been awake, asleep, crying, and coming out of anesthesia. In all cases, his oxygen levels stayed up, which helped ease some worry for the time being.

We never had a swallow test scheduled, as they approved us for speech therapy, which he goes to once a week, where they work on his eating mechanics. (Currently working on learning to drink from a straw!)

While the NM is the umbrella condition over everything else Harrison has going on, including his AMC, we continue to focus on his AMC treatment and therapies, and always aim and strive for him to continue to get stronger.

In four days, our baby boy celebrates his first birthday. During the first few months of Harrison’s life, I wasn’t sure if we’d make it this far, and it was calls and conversations like the one we have on April 5, 2021, that caused many a sleepless night for me.

I’ve had this date circled on the calendar for a while, not only because it is now a date we are aware of and acknowledge to help bring awareness, but because it was the date, I knew I wanted to write this post. Not so much for when I let the world know the full extent of my son’s condition, but for me to accept it fully. To not be able to ignore it, and I stop running from April 5th.

But with hard work and support, Harrison has continued to progress and surpass every expectation.

So today, on Rare Disease Day, we acknowledge not one but two rarities that currently have no cure. Our biggest hope is that continued research will develop cures for both within our lifetime.

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**A slightly altered post was also published on my blog The Greene Affect in recognition of Rare Disease Day. It is essentially the same post (SEO be damned!) while being slightly more personal as that’s the page I share with family, friends, and on his Facebook page.

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