[image-1]If you carried a gene that promised a painful, early death, would you want to know about it?
That’s one of the central themes of New York Times medical reporter Gina Kolata’s new book Mercies in Disguise, which she will discuss along with Mt. Pleasant resident, Amanda Baxley Kalinsky this Thurs. at Blue Bicycle Books at 5 p.m.
Kolata tells the true story of the Baxleys, a Hartsville, S.C. family stricken by a terrible inherited disease. Gerstmann-Sträussler-Scheinker Syndrome, or GSS, is a human prion disease that affects the way proteins fold in the brain. It is caused by an inherited genetic mutation that, if present, guarantees a person will one day die from it.
GSS starts with loss of memory, difficulty speaking, and unsteadiness. These symptoms progress until a patient is unable to walk, speak, and think clearly, followed by death. The disease typically strikes between 35 and 50 years of age.
There is no cure for GSS. There is no treatment that can slow progression of the disease. There is only a genetic test that can tell you if you have it. A family of many doctors, the Baxleys discovered their genetic scrounge after many years of research into their family tree. With the knowledge of the deadly gene they carry, some members of the family decided to have the test. Some decided not to.
Kolata said that through telling the Baxleys’ story, she learned you can’t predict how you would react to GSS until you end up in the situation.
“It is one thing to sit here healthy and with no known genetic disease in my family and speculate about what I would do,” Kolata says. “It is quite another thing to watch family members suffer and die and ask yourself, ‘Would you want to know?’”
Mt. Pleasant resident Amanda Baxley Kalinsky decided she wanted to know. The test results came back. Kalinsky has GSS. Amanda’s then-boyfriend, Bradley Kalinksy, proposed the next day.
“I wasn’t planning on doing this today,” Bradley said, according to Kolata in Mercies in Disguise. “So all I have is a loose diamond. But I want to be with you until the end. Will you marry me?”
The Kalinskys wanted children, but there was one problem: GSS is an inherited disease. It’s possible to test for GSS in utero, but abortion went against Kalinsky’s religious beliefs. However, there was another option. She could undergo IVF with preimplantation genetic diagnosis, or PGD. With PGD, eggs are fertilized normally through IVF. The embryos are then tested for the GSS mutation, and those with it are discarded. The remaining embryos without the mutation can be used to get pregnant.
PGD posed a great moral dilemma. Was ensuring her children would never develop GSS worth the cost of destroying embryos? Eventually, after months of deliberation, Kalinksy decided to undergo PGD. Her case marked the first time the technique was used on a prion disease.
“I think becoming more educated about the whole process made me feel more comfortable in going through with it,” Kalinsky says. “After going through this process, I now consider myself pro-choice. I believe it should be up to the woman to make the decision based on her individual situation and beliefs.”
Mercies in Disguise grew from Kolata’s 2014 New York Times article focusing on Kalinsky’s decision to undergo PGD. Kalinksy said she decided to share her story to raise awareness of prion diseases and provide hope to people in similar situations.
“Being faced with the diagnosis of a rare, terminal disease can leave one feeling hopeless,” Kalinsky says. “I wanted to show others that there is hope, even in the face of terrible illness.”
Creating a living memory for her children, 6-year-old twins Ava and Cole and 4-year-old Tatum, was also a major factor.
“When I am gone, I want them to be able to read this book and feel my love emanating from the pages,” Kalinsky said. “I want them to be able to know about it all. I want them to be able to know that I did everything in my power to keep them from this disease.”
In the end, Kalinsky is happy with her decisions. She would never return to not knowing.
“All the struggle, all the heartache, all the tears have been worth it,” Kalinsky says. “I have three beautiful, healthy children and GSS will no longer be a worry for future generations to come.”