Andrew and Amy Synnott had their first child, Eamon, in December 2018. Their new baby boy has brought them an unparalleled sense of joy.
But the path to conceive Eamon wasn't simple.
Nor was it easy.
Amy's father had Huntington's disease, a hereditary neurodegenerative disease that has a 50 percent chance of being passed from parent to child. Symptoms include everything from psychological disturbances and dementia, to involuntary muscle movements and impaired balance.
Approximately 90 percent of folks who are at risk for Huntington's disease don't actually get tested. But Amy and Andrew, who are both 37 and live in Hawaii, knew they wanted to have a child and wanted to make sure they wouldn't potentially pass the gene on to their future children.
'Amy eventually [got] tested and tested positive,' Andrew says.
'But with that, we still knew there were avenues to have kids and prevent them from having Huntington's. We knew we wanted kids, we just had to figure out the right path for our family to take to get to that point.'
Advancements in science now allow people who are carriers for certain diseases to have a child they know won't be a carrier of that disease. Amy and Andrew, for example, were able to conceive a child they knew wouldn't have the Huntington's disease gene, despite Amy being a carrier.
But this process — in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD) — is long, difficult, and expensive.
Many people who are carriers for genetic conditions (think cystic fibrosis, Duchenne muscular dystrophy, and Tay-Sachs disease) go through a journey similar to the Synnotts.
Deciding whether or not to have kids as a carrier can be emotionally taxing, and for couples who do wish to conceive without passing along the gene in question — the road to having children can be both arduous and costly.
Though there are options, they're not always straight forward — or affordable
For anyone who's a carrier for certain genetic conditions but would like to have a child without the gene in question, there are a handful of options, according to James Grifo, MD, PhD, program director at New York University Langone Health's Prelude Fertility Center.
One of these is to use an egg or sperm donation, though Grifo says people often don't pursue this route because they'd prefer to create a baby with both parents' genetic material.
Another option is for couples to conceive naturally and then test the fetus for the genetic mutation at 10 to 12 weeks of gestation through a process called chorionic villus sampling (CVS). If the prenatal test is positive, couples can then decide if they'd like to proceed with the pregnancy.
There are, however, some risks to CVS, including miscarriage and preterm birth.
Then there's IVF with PGD, which is the path the Synnotts took. This procedure involves creating embryos through IVF and then screening the embryos to see if the gene has been passed down. (For transparency, Grifo actually performed the first PGD procedure in the United States in 1982.)
That said, the success rate is dependent on the fertility of the couple. Moreover, much like traditional IVF, IVF with PGD can be very expensive — in the realm of tens of thousands of dollars — and therefore prohibitive for most people.
Amy and Andrew had success with IVF with PGD on their second try. The first time, they paid for everything out-of-pocket and the second time their insurance company covered some of the costs.
'For most people, it's not an option when you look at the price tag,' Amy says. 'Even though it seems like a deal for what we had done, it's not achievable for most people and their budget.'
Sometimes it's about whether or not to try and conceive in the first place
Allison Stubbs, 30, has an 11-year-old son, Dameron, with cystic fibrosis. She didn't know she or Dameron's father, who she's no longer with, were carriers for cystic fibrosis until Dameron was born.
In order for a child to be born with cystic fibrosis, both parents have to be carriers. If just one parent has the gene, they'll still pass that gene down to their child, who will then also become a carrier.
For the past three years, Dameron has been in the hospital every three months for a minimum of two weeks at a time, Stubbs says. Watching the difficult path her son is on has made her think deeply about whether she'd like to have another child.
Not necessarily because of the difficulties that accompany having a child with CF, she says, but rather because it's risky for children with cystic fibrosis to be near each other, as the risk of transmitting an infection is higher.
'Dameron is just very special,' she says. 'He almost died a couple of times as a baby, and I don't want to do anything to jeopardize his life or to take away from his quality of care.'
Stubbs, who lives in Houston, says that if it were up to her, she would not have any other children. But her partner would like a child and she doesn't want to take that desire away from him.
'My partner now really wants to have a child,' she says. 'But I don't want to pass on that carrier gene. And if he happens to also be a carrier of cystic fibrosis, that's just a hard no. We're not even going to try to have children then.'
But the potential decision to not have more than one child isn't something Stubbs takes lightly. In fact, she says that she knew that she wanted more than one child from a young age.
'I have several brothers and sisters, and I enjoyed that growing up. I wanted my son to have brothers and sisters, too. [But] the life of CF patients is really rough and painful. Knowing that I was carrying something that could put another child through this was very difficult. It was a hard thing to accept.'
'There are people who are against us [because they think] it's selfish. Anyone can have anything. We're just trying to live a normal life.'
Grifo says people who are carriers for certain genetic diseases often struggle when it comes to deciding whether they'd like to have children and if so, what path they will take.
People often feel guilty, responsible, and ashamed — as though they did something wrong — despite the fact that this feeling is misguided, he says.
'There is a lot of guilt associated with genetic disease — that if you're a parent and you have a baby with it, that it's your fault,' Grifo says. 'Which is not a good way to think about it, but that's the way people feel about it… It really takes a lot of counseling to help these patients feel better about their circumstances and give them the outcome that they want.'
Parents also have to deal with the judgement of others
Chelsie Legree, 27, tested positive for the Huntington's disease gene when she was 18. At the time, she wanted a big family. But testing positive has changed her mind.
Now, she and her fiancé have decided they'd like to have one child who they know doesn't have the Huntington's disease gene. Legree, who lives in Ottawa, Ontario, Canada, says they're still deciding which method they'll use in order to have a baby born without Huntington's disease.
Legree, whose father has Huntington's disease, says one struggle for her has been the criticism she has received from family members and acquaintances alike.
She says her stepmother, for example, views her decision to have a child as selfish, as she anticipates Legree would show symptoms by midlife and would therefore be leaving her kids without a mom.
Anybody who criticizes these things really needs to take a step back, think like the patient, and understand what it feels like to be them and have their family be ravaged by a genetic disease.
'There are people who are against us [because they think] it's selfish,' Legree says. 'Anyone can have anything. We're just trying to live a normal life.'
Grifo says that, unfortunately, this sort of criticism isn't uncommon. Many people who wish to have children without the genetic conditions they're carriers for deal with significant criticism. Some say they're creating designer babies by involving science, for example.
'I don't care who you are,' he says. '[You don't know until you're there] how you're going to handle that situation. You really don't. Anybody who criticizes these things really needs to take a step back, think like the patient, and understand what it feels like to be them and have their family be ravaged by a genetic disease.'
It's important to find moments of spontaneity and positivity in the journey
Yet while the experiences these families have had haven't been especially easy, there are still bright moments for some of the couples.
While Andrew says the manner in which they conceived could be seen as clinical or scientific, the two still managed to find small ways to glean spontaneity from the situation.
For example, they didn't find out the gender of Eamon until he was born.
'With that aspect of it, we were able to keep it spontaneous — keep it a surprise,' Andrew says. 'It was really fun for us to do that part of it.'
They also remain open minded about the outcome of their most recent round of IVF. The couple came away with three embryos and admit that they're hopeful that they'll be able to give Eamon a sibling with one of the embryos.
'Hopefully one of them will work out. But if not, we have a son, and we couldn't be happier.'
Jamie Friedlander is a freelance writer and editor based in Chicago. She primarily focuses on health-related content, with an emphasis on mental health in particular. Her work has appeared in The Cut, VICE, Business Insider, Inc., and the Chicago Tribune, among other publications. When she's not busy writing, she can usually be found drinking matcha tea into excess, traveling somewhere new with her husband, or surfing Etsy late into the night.