by Josh Forman, Head of Science, Education & Outreach
I’ve been asked many times, “Why should I bother with recessive genetic screening if I’m in a same-sex relationship? We’re not exactly having children in the heteronormative way.”
It’s a fair and important question. After all, much of what we do at Jnetics focuses on biological children. At first glance, recessive screening might seem less relevant for families who don’t fit the heteronormative mould.
But recently I was reminded why this thinking misses the real complexity and power of genetic screening, through the story of Krystie Anna Karl-Steiger.
Krystie was a beautiful baby girl born to Bruce Steiger and Rick Karl, a gay couple who welcomed her via surrogacy in California back in 2006. Tragically, Krystie passed away in 2015 at just nine years old from Tay-Sachs disease, which was diagnosed the day before her first birthday. Since then, her dads have become passionate advocates for genetic screening and research into Tay-Sachs treatments.
Bruce and Rick’s journey to becoming parents was far from easy. They chose gestational surrogacy, where a surrogate carries a baby that is genetically unrelated to her. The couple faced eight surrogacy attempts over three years, including three heartbreaking miscarriages, all while investing their entire life savings. Eventually, their perseverance was rewarded with Krystie’s birth.
Their family’s story also highlights a crucial point: Krystie’s conception involved IVF using a donor egg and mixed sperm from Bruce and Rick (so the biological father is unknown). None of the three were Jewish, so none were initially screened for Tay-Sachs, a condition often linked to Ashkenazi Jewish heritage, as well as French-Canadians and to a lesser extent, Irish-Americans. But it turned out Rick is a carrier of the French-Canadian founder mutation. As Krystie was born with Tay-Sachs Disease, the donated egg also contained a gene fault. Therefore, the assumption is that Rick is the father and passed the mutation on to Krystie. Their fertility clinic routinely screens Jewish couples for Tay-Sachs, but never suggested screening for Bruce and Rick.
The implication here is that routine screening could have prevented Krystie being born with Tay-Sachs. A simple, cheap test would have prevented all the subsequent heartache and suffering.
Despite all of this, Bruce and Rick were devoted parents. They travelled extensively with Krystie, moved to a new state to access specialist care, connected with Tay-Sachs communities, and even rigged up a bike with supports so Krystie could participate in the St Paul Classic bike tour three times.
When Krystie was just 1 year old, in 2007, Rick and Bruce helped found the US-based ‘Cure Tay-Sachs Foundation’, through which they advocate for genetic screening and fund research into developing a cure for Tay-Sachs Disease.
Clinically, their situation might not have screamed “screen for Tay-Sachs.” But their experience shows how genetics goes beyond traditional assumptions — and why screening is important no matter your family’s shape or origins.
At Jnetics, inclusivity isn’t just a buzzword, it’s normal. While the NHS Jewish BRCA Testing Programme rightly applies to everyone of Jewish ancestry, the relevance of recessive screening to non-traditional families can sometimes be less obvious.
So, here’s my heartfelt plea: If you’re thinking about starting a family — however that looks for you — please consider genetic screening. The insights you gain could shape your journey in profound ways. Will you choose a specific sperm or egg for IVF? Will you need embryo genetic testing? These decisions matter.
Please don’t ever think, “This won’t affect me.”
Because, as Krystie’s story powerfully reminds us, genetics doesn’t care about traditional boundaries — but it can deeply impact every family.
Learn more:
LA Times Feature
Center for Health Journalism
Seattle Times
Star Tribune Article
