Why Genetic Counseling?

It is the obligatory question. It  comes after "Where do you go to school?", "What are you studying?", "What do you want to be?", and "Ooh, is that when parents go in and ask for a blue eyed baby girl and you make it?" Followed by face-palm.

Genetic counseling involves many things, but here's a summary. A genetic counselor is someone who works as a patient advocate on a health care team.They serve as a resource for health care professionals as well as the general public. They see a variety of clients, but many specialize in one of the various categories such as prenatal, postnatal, or adult onset diseases (such as Huntington's Disease). They generally work in hospitals though some have their own private practice. They are concerned with the emotional well-being of their clients, processing the complicated and convoluted issue of genetic disease and dealing with the tangled web of emotions that comes with it. They are educators. They are advocates. They are a support system.

They are not:
- Genetic Engineers
- Gene Therapists
- Cloners
- Doctors (and by doctor I mean physician, as some genetic counselors do hold doctorates and would therefore be considered doctors)

Now why on earth would I want to participate in this profession? Aside from it's obvious awesome-ness, I can count at least five compelling, personal motivations off the top of my head. I will leach them out slowly in future blog posts, but what follows this paragraph was my first indication that I could do this profession, and even be passionate about it. I wear a bracelet on my wrist every day as a reminder of my goal.

My cousin is a pretty cool kid. He loves sports and he will turn anything into a competition. And even though at times he's too cool for hugs and kisses from his older cousins, I still love the little guy. He's turning eight soon, which is hard to believe. He has a genetic disorder by the name of Alpha-1 Antitrypsin Deficiency. My mom and my sister are carriers. My cousin's family have done their homework and they know a lot about the situation; they're also active in fundraisers and awareness projects. I gave a link to a lengthy explanation of the disorder, but in brief, the disease is characterized by lung disease (usually emphysema) and sometimes liver disease. Onset is usually around age 40, though of course there is a range; some people live normal lives completely unaware of their condition. Those with the most severe deficiency may die in infancy.

So when my family was discovering all this stuff for the first time there was a lot of uncertainty. There were a lot of questions raised over the years. I answered a lot of them for my own immediate family because I was the only one who knew how to make a Punnett square. I remember specifically showing my mom the inheritance pattern for my cousin. When I became really interested in genetics (about sophomore year of high school) I made presentations for a Public Speaking class as well as a Child Development class about the pros and cons of genetic testing, using my cousin as an example. I made a video that was gossiped about quite a bit in school because it made a few of the girls in my class tear up.

I remember going in to be tested for Alpha-1. I remember what wondering feels like. I remember my sister's reaction when she found out she was a carrier. I've lived (at least part) of the client's experience on one side of the desk. And I want to see the other.