I gave away all my son’s clothes when he was 6 months old. Not just the clothes he had outgrown, but the ones we had accumulated for him to grow into: new presents of sweatshirts and socks, old clothes from his sibling and cousins. I figured he wasn’t going to need size 2T hand-me-downs from his older brother if he wasn’t going to live to see two.
I gave back borrowed toddler chairs, sold our high chair, threw out sippy cups and big kid spoons. I couldn’t look at these things my son would never use; couldn’t stand having them near me.
Austin has a rare disease called L-CMD (LMNA-related congenital muscular dystrophy), which will rob him of the use of his limbs and interfere with the correct workings of his heart. Already he cannot hold his head up, sit, stand, walk or even eat by mouth.
This is our fight.
Austin was born on Aug 27, 2019, and as far as we knew he was a typical little baby. Cranky, not a good eater, but all things that we were told were in the range of typical and that he would outgrow.
Every feeding was an anxiety-ridden nightmare. My heart would beat out of my chest, and I couldn’t breathe. Austin would not drink more than two ounces regularly, and he ate the best half asleep. If he were fully awake or distracted, that was the end. So at the first peep during a nap or overnight, I would book it to his room, keeping it dark and quiet and pray that he would eat more this time. He rarely did.
He would cry nearly all day except when napping. He would scream as I drove him around endlessly in the car, only quieting down when I would play Jill Kargman (from Odd Mom Out) being interviewed on podcasts. We of course listened to them all.
The only time I felt I could relax was during the first 30 minutes after he’d fall asleep when I knew he’d sleep at least that duration.
We saw specialists, chiropractors, pediatric oral surgeons, feeding therapists. We weighed him constantly. Nothing we did would encourage him to eat more. And then our lactation consultant flagged that he wasn’t lifting his head in tummy time. Oh, we said, that could be a phase, couldn’t it? Not really, she said. We still figured he’d grow out of it.
When he was 5 months old, however, Austin was admitted to Texas Children’s Hospital for failure to thrive. Surgeons put in a G tube (gastrostomy tube which deposits pureed food directly into his stomach) to ensure enough calories. He was checked out by neurologists, dietitians and therapists. He had genetic testing.
After three weeks in the hospital, a panel of doctors and counselors sat across a conference table from us. When they said, “We found something,” I actually said, “Oh good,” happy to have an answer to all the anxiety.
But no, it wasn’t good. The diagnosis: a cognitively typical baby trapped in a dying body. Any life we thought we might know, any hopes, any plans: shattered. No treatment. No cure. Go home and love him and enjoy your time together. How many of these speeches had they already delivered that day? How many moms had the chaplain comforted with the same words, none of which I can remember a year later.
We spoke to dozens of people. Most of it a blur. I didn’t understand much. And I was someone who thrived in AP Bio and college genetics courses. My brain had decided to blur out, hard.
What stuck with me was that his heart could fail at any moment, that most kids live into their teens, but many do not. That there were 50 children with this disease in the world (we later learned it was closer to 200), and that Texas Children’s had never had one before.
And so we began a new and unexpected life. I told myself that Austin would have “stuff” like any other kid, but his stuff would just be different. No high chair for a kid who can’t sit up or eat. No playpen because he wasn’t going anywhere. No toy sit-and-scoot trucks or tricycles. Instead the G tube, a reclined baby chair placed in a wagon for family walks, a crib mattress that has never been lowered. He has a cough assist machine that forcibly blows air into his lungs and then sucks it back out, “physical therapy for his lungs,” two times a day.
We didn’t make plans for anything beyond the evening. We still don’t really.
When COVID quarantine hit a month after Austin’s diagnosis, we had basically already been living this day-to-day existence, all-consumed with vomit, doctors, overnight tube feedings. For me, the silver lining was that it gave us a moment to breathe. We weren’t allowed to go anywhere. The pressure of taking a vomiting baby out of the house, stuffing him into a too-small infant car seat to go to numerous therapies and doctor visits subsided for a time. We could focus on that “enjoy the time you have together” part.
And this year of quarantine has given us space and time to discover hope.
Fast forward a year, a thousand scientific papers, innumerable Zoom calls with researchers around the world, a new vocabulary, a new set of rare disease friends and a new purpose, and we’ve discovered that in fact, there is something we can do. It will be as easy as it is cheap, which is to say not at all, but there is hope.
That hope led us to establish the L-CMD Research Foundation to urgently translate the medical technology that’s available today into treatments for this awful disease now.
We are collaborating with two research institutions to create a gene therapy for L-CMD. A gene therapy is a specific treatment for a single disease or gene. The technology is there, it just needs to be mapped to our gene. We are ready, and now it’s a matter of raising the money. (To find out more or how to contribute, visit our website.)
$2 million dollars, in fact.
To develop, test safety, manufacture. To get ready for clinical trials. To deploy this treatment as early as possible to have the greatest potential impact at truly changing the quality and trajectory of Austin’s life.
Pharmaceutical and biotech firms are typically not interested in starting from scratch with rare diseases with small patient populations, so it falls to those affected and the patient advocacy groups to push forward the research and the application. Families and nonprofits scrape together the money and make it happen out of pure grit and determination and love.
Living with a rare disease is an expensive endeavor to start. One in which we get no choice or say. We were lucky to have insurance that covered genetic testing. Many do not. Ours was not so good as to cover some adaptive equipment Austin needed, but after a long and arduous process, Austin was approved for Medicaid which thankfully covers most things.
Insurance, does not, of course, cover gene therapy, and so we have found a renewed purpose in trying to save our child’s life, as well as the others with L-CMD.
What this journey is showing us is the true meaning of the words community and friendship; when long lost friends send you donations, dinner, clothes, offer connections, share your story, it’s very humbling and very appreciated.
And even with this weight bearing down on us, we see the light at the edges. We see the path forward and we will take it. One foot in front of the other, as clichéd as that sounds, it’s true. We are so hopeful that these kids can live life to their fullest potential and that Austin will live to wear those 2T clothes.