I Lost My Son To A Rare Genetic Disease. I Saw IVF As A Way To Heal

I have a tendency to get lost. On my first date with my husband, we were supposed to meet at a bar in Philadelphia, but I somehow ended up in New Jersey. I was so late, he almost left. Luckily for me, he didn’t — we got married four years later. We started trying for a baby right away. My husband was born to be a dad, and we were both bored of being focused on ourselves. Plus, with me being 34 and him 40, we weren’t getting any younger, and we didn’t know how long it would take to get pregnant. 

It turned out, not long. We conceived on the first day my IUD was removed. We were surprised but delighted. I gave birth to an incredible son in 2016. He was a beautiful kid. He slept, he didn’t scream, he just had the tiniest little cry.

Then, at his eight-week appointment, our pediatrician said — very carefully — 'I need to get a consult on this.’ She flagged that he showed some low muscle tone. After some testing and going to a specialist, we learned he had Spinal Muscular Atrophy (SMA), a really rare but incredibly serious genetic disease.

It wasn’t long before I knew almost everything about it — I could geek out on the science forever. The short version: Our son was essentially missing a chunk of DNA that creates the protein that allows your spinal column to talk to your muscles. This meant that although his movement looked close to normal at birth, he really quickly began to loose the ability to move. It’s a degenerative illness that gets progressively worse over time. We were told that while there were some treatments in experimental phases on the horizon, there was no cure. The average life expectancy for a child with his type of SMA was under two years. It wouldn’t affect his mind, but the physical effects could affect his ability to breathe and function. With the severe version of SMA that he had, the prognosis was not a great one. 

I wouldn’t say we handled it well, but I would say we handled it pragmatically. We decided: This is part of parenting. You don’t know what kind of child you’re going to get or what kind of parent you’re going to have to be. So, we did what any good parents would do: We tried to teach our kid to be independent and a good person who cares about people around them, even if he was still teeny tiny. And we used every resource we possibly could to give our son a shot at life. 

We knew we were really lucky to have such resources and to be near a medical centre with great doctors. We got connected with Cure SMA, a research, support, and advocacy group, which helped us understand what our options were. We learned that a really powerful treatment called Spinraza was in the final stages of being approved by the FDA, and that some people could get it before it was approved through ‘compassionate access.’ The earlier on in life you can get the drug, the better it works. At seven months, we were able to get him into an early access program, and that changed his life. He was getting a little stronger. But he was still using his ventilator for breathing support between 12 and 18 hours a day. He wasn’t able to hold his head up independently. While we saw progress, he couldn’t make enough progress fast enough. The day after his first birthday, he got a cold and he couldn’t fight it. He ended up passing away a few days later. 

I was lost, yet again, but this time in my grief. I threw myself into my work. My husband became a runner. He wanted more quiet time to work through it, and I wanted more time to prove that I could still do things. We leaned on each other, our Cure SMA and church communities, family, and friends. But it’s funny — like IVF, grief is something you do with others, but it’s also something you do alone.

Way back when my husband and I were first coming to terms with the SMA diagnosis, we had thought, I know our son is meant to be someone’s older brother. But we knew because of our genetic makeup, our risk of having another child with severe SMA was one in four. It’s a recessive genetic condition, and we were both carriers. We decided to do IVF and genetic screening, which would let us select and implant an embryo without the genetic predisposition for the condition. Everyone has their own moral lines. For us, being able to prevent the conception of a child with SMA was an acceptable line. But we knew if I did get pregnant and that child had SMA, we would love them as consistently as we did our son.

So we started genetic counselling, pre-testing, and learning about the IVF process when our son was still alive, with the idea of giving him a sibling. Then, after our son died, we realised we were so rooted to being parents. It’s a strange and awful thing to go from being someone’s mother to not. That accelerated our decision to try to expedite IVF — we both had a strong desire to be parents again. We wanted to just move forward. 

We did two rounds of egg retrievals as soon as we felt we were able. I don’t remember much from that time because I was in such a fog. I remember carrying around refrigerated packets of medicine and leaving work dinners for 15 minutes to go shoot myself in the stomach with a needle full of fertility drugs in the bathroom. I recall it was not the most pleasant thing physically, but, you know, none of that compared to dealing with not having our son anymore. The first step in that journey was done through the haze of grief, but with the clarity of what it really means to be parents. 

From the two cycles, we had maybe 11 embryos total. We knew statistically one in four would be affected. We had only one embryo totally unaffected, and some were carriers, which would mean that they would be asymptomatic, but if they had a child with someone who was also a carrier, there would be a chance it would have SMA. 

We transferred the unaffected embryo in 2018, and it took. I was relieved. I had been on autopilot through the whole IVF process, but suddenly I got to be excited about being a mum again. Nine months later, I gave birth to our daughter. I think that’s when my appreciation for the IVF process really kicked in — especially when she started hitting physical milestones like holding up her head, rolling over, and sitting up. Our son had been too weak to support himself, so her development was really startling to watch. It was completely stunning to have a baby that could move. 

When our daughter was one and a half, we started thinking about another one. We had stored the embryos that testing had revealed were carriers for SMA, but that would not be symptomatic. But the problem was, we moved across the country for work, and then COVID happened. We found a clinic in our new city that would do remote monitoring, and I decided that I would just fly to my embryos when I needed to do the transfer — that seemed somehow less risky than shipping them across the country. 

The whole fertility journey was expensive, but the money was so inconsequential compared to the consequences of not paying for IVF, in our case. We paid a lot of money out of pocket, including the genetic testing, though there were things we could have fought very hard for and perhaps gotten covered. It was tricky, because the coverage was for “infertility” but I technically don’t have that. Our problem was with genetics. From an insurance company’s standpoint, the smartest thing for them to do would be to cover genetic testing and IVF for us, because they spent literally millions of dollars on our son’s care. But the way insurance policies are written is very specific: They cover for diagnosed infertility, so we had to fight to have a lot of things covered by making the argument that it was cheaper than treating another child with SMA. We spent about $25,000 (£18,400) total on fertility treatments out of pocket, with about $10,000 (£7,374) being spent on genetic testing, and about $3,000 (£2,212) on traveling to procedures.

Ultimately, it took two transfers and a lot of coordination… but now I’m pregnant again with our second son. We tell our daughter — and will tell our second son — about their older brother, and we have pictures of both kids up on the walls. We wanted our daughter to grow up knowing that she’s who she is and is as healthy as she is, in part, because of him. I do think it’s sad that they never got to meet each other, though.

As told to senior writer Molly Longman.