The joy that prenatal genetic testing has brought to gender reveal parties is undeniable: specialty cakes, powder-filled baseballs, a box full of pink or blue balloons. But that’s just one of several results you can get from prenatal testing. As a genetic counselor, I’ve also witnessed the anxiety t
I remember it all so vividly: Our conscientious and compassionate geneticists had given us an ultra-rare diagnosis: hereditary spastic paraplegia type 47 (SPG47). There were nine others diagnosed in the world that they knew of at that time, and no one was researching treatment.
Some might say our story is tragic, worrisome, and full of heartache and loss. But thanks be to God, who in His perfect timing placed in our lives a brilliant medical team and genetic counselor, Benjamin M. Helm. Because of Ben, we can say our story is one of life, miracles, love, and hope.
Our relationship with Melanie began after our son, Adam, and future daughter-in-law, Anne, went through genetic testing before their wedding. Based on their results, my husband and I were referred for testing as well. Adam had previously been diagnosed with myotonia congenita, a rare genetic
From Information and Entertainment to Actionable Medical Tests
If you were a fan of the Winter Olympics like I was, perhaps you saw the seemingly endless parade of TV commercials for AncestryDNA and 23andMe, two of the biggest direct-to-consumer (DTC) genetic testing companies. If you are not fami