Genetic Testing and PGD for ALD

PGD erased a devastating genetic disorder from this family’s gene pool

Sarah Chesworth - Genetic Testing and PGD for ALD
Image by Mama’s Love Photography

Tyler and Sarah Chesworth knew they would have obstacles to overcome before having children. Fortunately, an advanced reproductive technology called preimplantation genetic diagnosis (PGD) would give them peace of mind and the ability to protect their babies – and their family’s future generations – from a devastating, inheritable disease. Brian Barnett, M.D., and the team at our Dallas fertility center guided them through the first of two phases of PGD treatment.

This is their story

In 1961, Sarah’s dad was born and his mother unknowingly passed along an X-linked disease called Adrenoleukodystrophy (ALD). This was the same disease that was passed on to Sarah’s grandmother, and likely Sarah’s grandmother’s brother, who died before the age of eight. But, of course, no one knew any of this at the time.

In 1991, her dad unknowingly passed ALD on to Sarah.

Later he would be diagnosed with Adrenomyeloneuropathy (AMN), the adult onset of ALD. Over the course of her childhood, she watched her dad lose his ability to walk, his ability to reason and eventually his life in 2009.

“It was a really heartbreaking thing to witness,” Sarah said. “In high school I learned that I, too, was a carrier of this disease. I spent a lot of time thinking and worrying about how this would affect me and if I would be able to have the family I dreamed of one day.”

Meeting a genetic counselor about PGD for ALD

Sarah Chesworth - Genetic Testing and PGD for ALDIn 2014, Sarah married her high school sweetheart, Tyler, and shortly after they met with a genetic counselor to complete genetic testing to confirm what they already knew: Sarah was a carrier for ALD.

  • Like most X-linked diseases, females are carriers of this disease, but can still have symptoms, while males are affected by the disease.
  • There would be a 50/50 chance that their children would have the disease (males), or carry the disease (females).

“Although no human life is free from suffering, we decided to embrace the technology available to us and end this heartbreaking cycle that has haunted my family for generations,” Sarah said.

Creating a customized probe for PGD for ALD

In 2016, the couple worked with genetic testing company Natera to set up a probe that would be used to test their future embryos for the disease.

“Tyler and I completed blood work and my mom actually had to send in a spit sample,” she said with a laugh.

After the probe was completed, they could begin IVF when they felt ready.

“At the time, we were using another IVF clinic and things just didn’t feel quite right, so I wasn’t ready to start the IVF process,” she added.

As a teacher, it’s ideal to start IVF at the end of the school year

In 2017, Tyler and Sarah knew they were ready to get serious, and found Dr. Barnett at Dallas IVF.

“Although Tyler and I knew that we would love, adore, care for and praise the Lord for any child given to us, we are given so much peace and comfort knowing that we won’t have to watch our children suffer the same fatal disease that so many others in my family have.” Sarah Chesworth, a carrier of Adrenoleukodystrophy (ALD)

“I had that warm-fuzzy feeling from the second we stepped inside the Dallas fertility center,” she said. “After meeting him, I knew he was the right fit for us!”

As a first grade teacher, Sarah decided it would be easier to complete IVF during the summer when she could take it easy. In June, the couple began their first round of IVF egg retrieval and fertilization.

“It was a very emotional process, but I found that keeping a prayer journal along the way really helped me to see all of the good God was doing, and work through all of the different feelings I was having,” Sarah said.

The faithful parents-to-be remained positive, but they knew that statistically half of the embryos would have or carry the disease.

“We anxiously awaited our results before the embryologist called and let us know that we had healthy embryos! It was some of the happiest news I have ever received in my life,” Sarah recalls.

Faith through the storms

Sarah Chesworth - Genetic Testing and PGD for ALD
Image by Mama’s Love Photography

Although Tyler and Sarah know how many healthy embryos they have and their gender, they have chosen to keep it a secret. They have been extremely open about the IVF process and have enjoyed sharing their story, but also want to have some “normal” parts of a pregnancy, too, like a gender reveal and seeing the look on people’s faces when they share the news.

The Chesworths look forward to returning to our Dallas fertility center soon to transfer embryos. They, of course, hope to have a normal, healthy pregnancy.

“Although Tyler and I knew that we would love, adore, care for and praise the Lord for any child given to us, we are given so much peace and comfort knowing that we won’t have to watch our children suffer the same fatal disease that so many others in my family have,” said Sarah. “We are so grateful to Dallas IVF for helping us get one step closer to our dream of having a healthy family, free from ALD.”

To learn more about PGD for inheritable genetic disorders like ALD, CF, sickle cell disease and Tay Sachs, contact our Dallas fertility center for a consultation. Because some people are symptomless carriers for inheritable diseases, we encourage everyone, fertile or infertile, to ask about preconception carrier screening prior to starting a family.