It’s near bedtime for Brock Harold Rosen-Kurzmann when we meet his parents, Katie and Matt, in their home at the end of another long workday in December. Brock – a healthy, beautiful baby boy in every way – sits contentedly wrapped in his mother’s arms as we discuss the “miracle” of his birth in June 2019.
For couples of Ashkenazi Jewish decent, genetic screening is well understood to be a simple precaution – a risk assessment for diseases like Tay-Sachs, Gaugher and cystic fibrosis – all known to have a high prevalence in the Jewish community. For Katie Rosen and Matt Kurzmann, the test couldn’t have been easier with JScreen, a non-profit research, education and genetic screening program developed at Emory University in Atlanta.
“We specifically chose JScreen for the convenience of home-screening,” Katie explained. “All you do is request a kit online and they contact your doctor’s office for an order. JScreen then sends you the test, you spit into a cup and send it back.”
“JScreen is a mission-driven Jewish organization,” Matt emphasized. “With the goal to promote the health and wellness of young Jewish couples across the country, they take out the barriers that keep people from getting genetic testing – making it as easy, inexpensive and as accessible as possible. That’s why they provide their screening kits through the mail, and that’s why it’s subsidized by different private donor sources, including the Atlanta Federation.”
And beyond easy, JScreen is research-based and aggressive in their search for new genetic mutations to identify and test for. A typical screening at a private doctor’s office might use a panel of 20 commonly found diseases. JScreen’s 226-disease screening panel is as comprehensive as you will find. . . and still expanding.
What were the odds?
Married on New Year’s Eve, 2017, Katie, 33, and Matt, 30, would appear to most to lead a charmed life. A beautiful Jewish match: both grew up in Jewish Detroit with close ties to family; both graduated from Frankel Jewish Academy; both have chosen Detroit to establish themselves as young professionals and active volunteers in the community. Katie is a urologist in practice with the Michigan Institute of Urology; Matt, named in 2019 among The Well & The Jewish News’ 36 under 36, is National Director at Affordable Housing Advisors (AHA) and a First Vice President Investments at Marcus & Millichap
As newlyweds planning to start their family the summer after their marriage, Katie and Matt knew that genetic testing was something they had to do, but had little reason for concern about about the outcome. “Matt and I both come from huge families,” said Katie. “We’re both one of four kids. My mom is one of four, and both of Matt’s parents are one of four children. We had no issues or misgivings when we ordered our screen kits in April, then dragged our feet to send them in,” Katie shares. “And we dragged our feet about answering their call to give us the results, figuring the call would be routine and nothing could go wrong.”
Did you know? 80% of babies with genetic diseases are born to parents with no known family history of that disease.
-JScreen
So, when Katie and Matt finally made the appointment for what they thought would be a routine follow-up call with JScreen, they planned a casual evening out for dinner with Katie’s parents. As it turned out, Katie’s parents cancelled the dinner and Katie and Matt took the call from home. Nothing prepared them for what they were about to hear, starting with the question, “Are you guys sitting down in a quiet place?”
“We laughed, only because we happened to be sitting down,” said Katie, recalling the conversation nearly verbatim with the genetic counselor from JScreen. “She then proceeded to ask whether anyone else in our family had kids and was there any chance that we were related. Yes, Matt’s brother has kids and no, we are not related. We know that for sure, because my brother is very into genealogy. The counselor then told us she had some very unusual news for us.”
What Katie and Matt learned was that they were a rare match indeed. Both carried not one, but two genetic mutations they were at risk of passing along to a child: a hearing loss disorder as well as serious genetic disorder called RASPSYN, which can be fatal.
“The best-case scenario with RASPYN is that it can leave a child who is born with the condition with respiratory and muscular disorders,” said Katie. “The condition could be undiagnosed in utero and women might have miscarriages or fetal demise without knowing why. Or babies are born and die soon after because their lungs don’t function properly.”
RAPSYN? Never heard of it.
RAPSYN is one of the newest diseases added to JScreen’s 226-disease screening panel. Half of those are common in people with Jewish ancestry, and the majority aren’t tested at a doctor’s office. JScreen “came together out of need,” said Hillary Kener Regelman, JScreen’s Director of National Outreach. “It was developed six years ago after Emory University, where it’s based, commissioned a national study of Jews of childbearing age and found that only 24% had been screened or were aware of the need for genetic carrier testing.“
Beyond shock
While Katie was more attuned to the medical details, Matt certainly understood the ramifications. Their chances of having a child with one or both of the genetic diseases was 50%. “Because of genetic testing, you learn if there’s a small chance of something happening, and a window of opportunity opens,” Matt said. “When you do the math, with two genetic diseases for which we both happened to be carriers on the JScreen panel – then add any of the other genetic mutations that anyone can have a 25% chance of passing along, we essentially had a 75% chance of an unborn child having any genetic condition. We were advised and agreed not to take that risk.”
Armed with that information, the conversation quickly turned to two options: first, to get pregnant and get amniocentesis testing to determine whether the fetus was affected (still a risk) or to go through in vitro fertilization (IVF) with pre-implantation genetic testing – a complex, multi-stage procedure to identify viable embryos safe and suitable for implanting (or freezing for future use).
“Having that information ahead of time lets couples plan ahead,” said Karen Arnovitz Grinzaid, Executive Director at JScreen and Assistant Professor at Emory University School of Medicine. “And that’s really our goal, to give people information that they can use for family planning.”
Beyond random, beyond lucky
And here’s where Katie and Matt’s story gets really interesting. “For the record, I’m pro-choice,” says Katie, “But there are choices I would never want to have to make. IVF with pre-implantation genetic testing was the one option we felt we had in order to carry a health child from conception to birth.”
Katie was 30, in good health and hopeful that she and Matt would produce viable embryos through the first arduous cycle or two of daily injections, bloodwork, ultrasound, “harvesting” and testing. And they did.
By September 2018, there were eight viable embryos; six tested positive for one or both of the rare diseases; and one tested positive for another common chromosomal abnormality. That left one chance – a risky chance to take with a first pregnancy, where it’s common even for natural fertilization not to take place. Boldly, Katie and Matt took the chance with the one embryo. By Thanksgiving of that year, they had good news to share with their families that they were pregnant, against all the odds.
Rocking a sleepy baby in her arms, Katie eyes begin to well. “I can’t believe this is our situation. I never thought we’d have to do IVF — not straight out of the gate as we did. (We didn’t even get to the fun part.) When I think of all the women I’ve met in doctors’ offices, on their eighth or ninth cycle, with no positive results, I know we have been blessed. I’m beyond thankful that we found JScreen, thankful that we got pregnant at the very first try, and thankful that we have the health and finances to even consider repeat the process for a brother or sister for Brock. My dad still cannot wrap his head around the medical science. Every day he says he can’t believe genetic testing and intervention is even a thing, and will probably never stop telling us how lucky we were to find JScreen.”
“What most people don’t realize is how taxing IVF can be,” says Matt. “It’s taxing on the body and the mind, it’s taxing on a marriage, and it’s taxing on any day-to-day work/life balance. And not one single thing about IVF is covered by our medical insurance (though this may vary by plan and state). For most young people, the choice is prohibitively expensive at the average cost of $12,000 to $15,000 per cycle. And that’s the lower range per round.”
Katie and Matt openly share the intimate details, trials and tribulations of their first journey into parenthood for one reason. “We’re here to help spread the word that genetic screening is not only essential for family planning, it’s easy and comprehensive with JScreen,” says Matt. “We drew the wild card, but we’re here to say that knowledge is power. And even if you were tested a couple of years ago, get retested – because, as we know today, our body of knowledge is always changing.”
