With Fabry disease, we're (genetic counselors) perfectly suited to be the one who helps people understand how Fabry disease runs in families and the impact Fabry disease has on family members and understand the impact of who might be at risk that have Fabry disease symptoms.
Fabry disease is such a sneaky condition and the symptoms are not things you can measure easily, like burning pain in the hands and feet that can't be measured on a nerve conduction test or gastrointestinal issues with diarrhea and constipation.
So when we talk about Fabry disease and genetic counselors, they're great for going out and educating about what Fabry disease is and how Fabry disease can impact someone's life.
Genetic counselors do a great job managing care for patients with Fabry disease. Genetic counselors can help patients understand what monitoring tests are important on a regular basis and why you do them.
Why we are doing a cardiac MRI when you just had an echocardiogram? This is the type of question that patients might ask.
The other piece is that when you find 1 patient with Fabry disease, on average there are 5 additional family members and that's just an x-linked inheritance. Genetic counselors can draw a pedigree and indicate each person who might be at increased risk and then tell them how to get tested in a very specific way that means they won't be confused.
I think genetic counselors are most important in figuring out next steps – what do you do next to improve your life to get on treatment, what you need to do for your family members. This is important because Fabry disease is a whole family disease, it's not just one person. Usually it's a son, a mom, a grandpa, an aunt, a cousin and a genetic counselor can help navigate that maze.
At Emory University, we have a lysosomal storage disease center where we focus on the coordination of care for Fabry patients. We have a patient centered model where we try to coordinate all of their assessments, all of their monitoring, all of their treatment in one place and then refer out where appropriate. So we've already identified nephrologist neurologists cardiologists, etc. All the specialist they're going to help optimize the monitoring and treatment of Fabry patients. For geneticists, they are the primary contact because we understand the quirks that are going to occur for treating patients with Fabry disease, the autonomic dysfunction, the reason that you don't really want to use beta blockers, etc. These are different things that really a medical geneticist can help the other team members, and the external team members, understand.
Genetic counselors play a large role at Emory. Each genetic counselor focuses on a particular disease in the center and we have 3 counselors for Fabry disease – 1 exclusively (that’s me) and 2 others who can assist the team in a manner that is patient focused and hopefully provides the best possible outcomes.