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
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.
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.
From Information and Entertainment to Actionable Medical TestsIf 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
I’ll never forget the day I sat across the table from a mom and her two adult daughters, one of the daughters herself a new mom of a baby boy. That day, I was able to give the three women some very good news: neither the two daughters, their children or future children were at risk for a life-threa