KENT COUNTY, Mich — Having a rare condition or a genetic disease can sometimes make the dream of building a family feel impossible.
Dr. Mili Thakur is helping couples in West Michigan and across the country make their dreams a reality with her telehealth reproductive genetics consultation practice, Genome Ally.
The practice aims to be an "ally", helping couples navigate their family-planning choices.
"Many of us will have children who are typical, and we think the world is that way, but for individuals who are navigating that risk, you know, it's a huge thing to have a child who's not affected by the disease that affected them or generations before them," explained Dr. Thakur. "Whether they are carriers of a certain kind of genetic disease, or if they have a personal or family history of that disease, or if they have an affected child with a genetic disease. We take expert information and then we break it down into smaller portions for them so they can make decision making for their family."
Chris Newton and Jessica Matthews credit Genome Ally and Dr. Thakur for their two healthy boys, Liam and Carter.
Newton, who was diagnosed with cystic fibrosis as a baby, grew up knowing he'd face challenges to start a family.
"A doctor had told me that I probably was not fertile, so I knew in high school that would be the case,” he said. "It's definitely something I never thought would happen if I'm being honest."
Newton and Matthews found the help they needed at The Fertility Center in Dr. Thakur.
"She helped teach us about the Genome Ally and that whole process," Matthews told FOX 17 News. "She helped walk us through that, which was great."
Through Genome Ally, couples are counseled and referred to local labs or providers to undergo genetic testing.
The first step is pre-conception carrier screening, using a blood or saliva test, to screen for various conditions.
"You can find out if you or your partner are carriers of a recessive condition when one in four children could be affected. Or it's also a service where individuals who've been affected by pregnancy loss or have an affected child with a genetic condition can then take control of their life," Dr. Thakur told FOX 17 News. "Conditions that cause blindness, genetic blindness, you know, conditions that cause a lot of metabolic diseases... and diseases like cystic fibrosis, sickle cell anemia, spinal muscular atrophy, cancer-related genes, like if you had a genetic mutation for BRCA one or BRCA two, you know, those kind of things."
The results help determine whether to attempt natural conception or to explore advanced options like in-vitro fertilization (IVF) with pre-implantation genetic testing.
Regardless of the results, knowledge is power: Dr. Thakur said the information couples receive can prevent them from being blindsided during pregnancy or after birth; or help to prepare for a child that may have special needs.
"It usually takes four to eight years for a child with a genetic disease to be diagnosed, and then 30% of children would die during that diagnostic odyssey,” she warned.
Newton and Matthews knew they wanted kids, but did not want to pass on the condition.
After extensive genetic testing, Matthews learned that she was not a carrier of cystic fibrosis.
Both boys, although born healthy and unaffected, are carriers of cystic fibrosis.
"If they decide to have kids later, they will also need to do genetic testing before choosing to have kids,” Matthews explained.
Newton, who's now survived two double lung transplants, is grateful to have also beaten the odds to build a family.
"All of the science behind it is just mind-boggling," Matthews said. "It's just so crazy. We went from not knowing if he was going to survive to now having a family and two little kids. And it's pretty amazing."
Dr. Thakur points out that more insurance companies are beginning to cover the cost of pre-conception screening. She advises that without insurance, it typically costs around $300 for self-pay.
No referrals are needed for Genome Ally.
To learn more about Genome Ally and its services, click here.
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