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.
Read Story
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 disorder, so we were understandably anxious about further testing and what it might mean for our extended family.
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 can play in helping people navigate their healthcare.
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
In the spring of 2013, I met with my new OB/GYN for a routine exam, and we discussed my family health history. I’d never really thought about my genetic risk for breast cancer. I knew my maternal grandmother had had breast cancer but hers was the only case in the family.
Take matters into your own hands is a phrase we frequently hear in everyday society. Whether it’s health, work, family or an unexpected situation, many people are tested daily to take control of their own lives. Sometimes people may not know where to begin to get help from others.
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 can play in helping people navigate their healthcare.
Editor’s note: The following article is a part of the National Society of Genetic Counselors’ new 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 can play in helping people navigate their healthcare
Our Angel. My name is Brooke Johns, and I was a patient of Anna Victorine in November 2014. I had learned that I was pregnant just before Halloween. I was already a mother of three, my youngest being 7 years old
Going the Distance. Twenty-four years, hundreds of doctors, and countless genetic tests later, and I finally, with the help of my dedicated and patient genetic counselor, Allison, found an answer. A diagnosis! No longer am I a patient with an “undiagnosed genetic condition,”