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
El siguiente artículo es parte de la serie de blogs de pacientes de la Sociedad Nacional de Asesores en Genética. Escrito por verdaderos pacientes, estas historias dan un vistazo al mundo a veces complicado de la genética y el papel que un asesor en genética puede jugar en ayudar a las personas a na
The following article is a part of the National Society of Genetic Counselors’ patient blog post series. Written by real patients, these stories share a glimpse into the sometimes-complicated world of genetics and the role a genetic counselor