My son is one and a half years old. He loves music, blocks and animals, and is starting to say some words, but his muscles are wasting away. Bit by bit, we notice he doesn't reach his arms up high anymore, that his "dancing" and "throwing" have become smaller motions. He has never been able to hold up his head, sit up, or stand, so he's always spent most of his time on the floor, rolling to this toy or that. He eats through a feeding tube placed directly into his stomach. He has the mind of a typical kid his age, but it's trapped in a body that is failing him.
Austin has a rare and severe form of muscular dystrophy called L-CMD (LMNA-related congenital muscular dystrophy). It attacks his skeletal muscles and interferes with the regular workings of his heart. It is fatal; there are no treatments, and no cure.
A condition like this is as random as being struck by lightning—a genetic mutation that neither my husband nor I carry, yet one which our son was born with. We had no concept this might occur; prenatal genetic testing only looks for the most commonly occurring DNA differences, and with a patient population of only 200 worldwide, only 35 of whom have the same mutation as Austin, who would be looking for L-CMD?
When, after Austin was born, a panel of doctors finally gave us the bad news about his diagnosis, we were told to take him home and love him and enjoy our limited time together.
Prenatal genetic testing only looks for the most commonly occurring DNA differences, and with a patient population of only 200 worldwide, who would be looking for L-CMD?
This sort of journey is not only heartbreaking; it's also expensive. We are lucky to have good health insurance, savings accounts, and now Medicaid for Austin. But when semi-annual routine specialist visits (of which there are many) are $1,000 each, that adds up quickly. Not to mention special food for tube feeding, wheelchairs and equipment, and specialized everyday supplies. For example, I once thought the UppaBaby stroller I used to see cruising around New York City was expensive at $1,000; then I had to buy an adaptive stroller for $6,000. The worst part is some insurances won't even cover it (thank goodness for Medicaid, truly).
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Parenting Austin means living life on a day-by-day basis, not making plans much beyond dinner. When we learned his diagnosis, my husband and I were both in shock yet also simultaneously forced to adapt to all the new routines—which, like so many rare-disease families, we absorbed immediately: 'round-the-clock feedings, full schedules of therapies and doctors, hospice nurses, exercises, and more.
This was about a month before the pandemic. When quarantine started, we were already hunkered down, mourning the future we had thought we would share with our two kids, not one. We were not only grieving the future death of our child, but also grieving any sort of "normal" time spent with him alive. We had imagined a life of brothers running on the playground, swimming together, riding bikes. Now we knew that even if Austin made it to an age where those were appropriate activities—which is far from guaranteed—he would never do those things. How would we figure out when and how and how much to say to our older son about any of this? The uncertainty and sadness of it all is still crushing and constant a year later.
We were not only grieving the future death of our child, but also grieving any sort of “normal” time spent with him alive.
All that emotional conflict, while also trying to figure out insurance, Medicaid, hospice, therapies, a new feeding tube, and if Austin would need that 529 college savings plan we had started for him after all, has been a weight. But for us, the silver lining of the pandemic has been forced togetherness, slowing down, and not being obligated to explain why we wouldn't be leaving the house for any get-togethers.
In fact, our newly required working from home may have actually afforded my husband and I the ability to dive deep into L-CMD: to find the people working on it, and to humbly ask others to do so as well. To read academic research papers, reach out to experts and scientists, and do the paperwork to start a nonprofit, the L-CMD Research Foundation.
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While it's true that there are no available treatments or cures for L-CMD, that doesn't mean there's nothing we can do. There are currently over 7,000 recognized rare diseases (a rare disease is defined by Congress as having fewer than 200,000 cases in the US), most without cures, and millions of people affected by them. And there are patient-driven organizations trying to advance science into treatments and cures for many of these rare disorders. The issue is that it doesn't make financial sense for the pharmaceutical or biotech industries to invest in start-up research to treat diseases with so few patients. So we—the parents and the patients—have to raise the money ourselves.
We need to urgently translate medical technology that's available today into treatments for this awful disease—now. To save Austin's life, we need to raise $2,000,000.
It doesn’t make financial sense for the pharmaceutical or biotech industries to invest in start-up research to treat diseases with so few patients.
How can someone's life be so readily valued in dollars and cents? I have to see it as an opportunity. An opportunity to make a difference, to help other children unnecessarily suffering this rare disease for no reason other than fate. I have to believe that we can raise $2 million because pharmaceutical and biotech aren't going to do it for us. We don't have time to lose.
Right now, the lab of Dr. Miguel Sena-Esteves at UMass Medical and the Perez de Castro Lab at the Instituto de Salud Carlos III in Madrid, Spain are planning 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 applied to our gene—to Austin's gene. The team and the project are ready to go, and for that we are grateful and hopeful. Now, to pay for the research and development, the safety testing, and for the first doses to be manufactured in a clean and quality-controlled environment, we need $2 million. We and our L-CMD Research Foundation are trying to raise this amount through community outreach and fundraising from generous donors around the world.
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I can't say that living with this rare disease is any more or less expensive than trying to cure it. $2 million is a lot of money, but a successful gene therapy to treat L-CMD and perhaps even those with the approximately 12 other known diseases of the LMNA gene, could save millions in the end. If Austin could sit, stand, walk, eat—that in and of itself would save the equipment, special food, private duty nursing, maybe even the myriad of therapies and specialist doctors' bills. Of course, the financial burden of living with a rare disease also becomes a mental burden; along with the anticipatory grief we live with day-to-day, it's hard to put a price on that.
I know I have two children. I know only one will live. Our older son, Ean, says he doesn't remember a time before Austin was born; he says Austin is his best friend. He snuggles Austin, helps him with puzzles, builds block towers for Austin to kick over, showers him with balloons to make him laugh. But Ean will be an only child again, and Austin will die. In the meantime, Ean will roam the playground alone, while Austin watches from the side.
Yet even with this incredible grief, and immense cost, and this unknown timetable against which we are running, we are taking one step at a time towards a cure. I remain hopeful that a different future is possible—that Ean will not become an only child again for a long, long time.