DENVER — DNA screening for genetic abnormalities has received a lot of buzz over the years, but for many, it’s something that’s been out of reach financially, until now. Counsyl is one such company that’s offering affordable genetic testing, something that one couple says has given them a life-changing opportunity.
Tessa Quittner said, “When Adam and I met, we knew that we both wanted kids right away.” But, life had other plans for Tessa and Adam, which led them from their ranch in Nebraska to Conceptions in Lone Tree.
“I`m here because I have Polycystic Ovarian Syndrome.” Tessa said after months and months of trying to conceive, she and Adam had resigned to the fact they’d have to go through in vitro fertilization in order to have the family they always dreamed of.
“Going through infertility is not an easy journey, it`s been devastating at times,” Tessa said. But, they never expected what they heard next. “He said to me, something has come up on your genetic profile.”
Part of the process offered at Conceptions is DNA screening to look for healthy, viable eggs. That’s when Tessa was confronted with a shocking reality. “It said Fragile X Syndrome in big bold black letters across the front of the page,” she explained. “My gut reaction was, that`s not possible, I don`t have a family history of anything.”
Turns out, that’s not uncommon when it comes to genetic abnormalities. Dr. Rayn Riggs, an infertility specialist at Conceptions said, “80% of patients don`t have a family history that have an affected child.” Dr. Riggs said most of the time, both parents need to carry the abnormal gene in order to pass it on. But, in Tessa’s case, Fragile X Syndrome is an exception. “It is the leading cause of intellectual disability and autism in the United States,” he said.
Still determined to have a healthy family, the Quittners are going through another round of IVF to retrieve more viable eggs because Tessa said knowledge is power. “It`s given us an opportunity to make a choice and that our choice is going to most likely be to not pass this pre-mutation on,” said Tessa.
It’s something made possible by Counsyl and Dr. Riggs said the future looks bright for the Quittners and others just like them. “I truly believe that the scope and the magnitude of what we can accomplish with this growing and evolving technology is really unbelievable and I think it will play a significant role in eliminating inherited diseases over time.”
Counsyl’s DNA test is simple and often times covered by insurance for as little as $100, pre-pregnancy or as early as ten weeks in.