Conference of genetics counselors

This past weekend was exhausting, but I think it was very productive for HPS outreach. I attended the meeting of the National Society of Genetics Counselors. To be honest, I had a very limited understanding of what genetics counselors did going into the meeting. My own contact with a genetics counselor was limited to a single encounter at the NIH when I was first “officially” diagnosed with HPS. It was a positive experience, but I had the general idea that the role of a genetics counselor was pretty much limited to explaining the genetics of a particular disorder, and how it could be passed on through a family tree.

I’m sure that somewhere there’s a very well thought out definition of what genetics counselors do, but anecdotally I can tell you that the people I met this weekend do much more than draw those little four-square charts on a piece of scrap paper like the ones you might remember from your ninth grade biology class.

The people I met this weekend were extremely well informed about a vast array of genetic disorders that the average doctor would probably be hard-pressed to explain. They help set up genetics testing for people who want to know if they, or their children, are at risk for a particular genetic disorder. They explain the results of genetics testing. They explain the possible implications of genetic conditions. They may also help patients get connected with appropriate treatment when possible. Often different types of cancer are inherited, so they might counsel someone about their risk and response options. Or there might be a family with a child that’s recently been diagnosed with a genetic condition. There are also families that seek pre-natal testing for certain genetic disorders and genetics counselors will work with these families to know what can be tested for in the womb, and what the response options are if the tests are positive.

As you might imagine, these topics bring up all sorts of ethical questions which made for some very interesting sessions as well as casual conversations that sometimes pushed my comfort zone and stirred up my own personal feelings on some of these ethical questions.

But, however I might feel about these issues, the fact remains that many families that have children with albinism are referred to genetics counselors and thus they are in a position to help us get kids with HPS diagnosed early, maybe even as infants. It gives families a chance to stay on top of HPS-related health concerns. That was my mission, and so I remained focused on the mission.

I spoke on a panel for Project DOCC. Project DOCC is another one of Donna’s projects. It’s a program, designed for medical schools, to help medical students better understand what it’s like to live with a child with special medical needs. How does the medical care impact the rest of the family etc? They’re now expanding some of their reach to include adult medicine issues and what it’s like to live with a chronic health condition as an adult.

The opportunity, of course, gave me a chance to talk about albinism, and specifically, about HPS. I was very mindful that this was a group that would encounter people from cross the albinism spectrum, so I tried to differentiate a bit.

Some of the sessions were extremely interesting, even though they didn’t necessarily relate to HPS. There was one about lyposomal storage disorders. One of the presentations was about developments in new technologies and new drugs to treat these disorders. I found the way the drugs worked, the way they “did their thing” sort of speak, fascinating.

There was another session on pre-natal hospice that was very good, but it was very hard to sit through without blubbering everywhere.

Essentially, the talk was about how to help a family that knows their yet-to-be born baby is going to die at, or shortly after, birth yet decides to carry the baby anyway. After all, it’s a bit cruel to send a family in this situation to birthing classes with a bunch of other couples whose biggest worry is the interior design of their nurseries. The session talked about how to help these families prepare for the birth, and the death, of their babies.

One of the presenters was a genetics counselor who specializes in this area. She told the story of one couple who decided to carry their baby, even though it wouldn’t live. They had named their baby girl Hope. The father was a musician, and he’d put together a CD of songs that meant a lot to him through this process.

I lost it. There I was, sitting next to the counselor I’d been paired with for the meeting, trying to hide the tears running down my face and trying very hard to not just start balling very loudly.

The women who read this blog will probably understand that we women are notorious planners. We walk around our bedrooms as little girls with pillow cases on our heads dreaming of our wedding one day. And I don’t know many women who don’t have a few names picked out for future children. I had always wanted to name a daughter, if I ever had one, Hope.

The likelihood that I won’t have kids has been a very, very hard thing for me.

That, coupled with the fact that the lyrics of one of the songs they played reminded me of Victor – and well, it was all over. It was a little more than I could take.

The demographics of the meeting were also very interesting. The attendees were overwhelmingly women, and young women at that – many fresh out of grad school. They were all very friendly and welcoming, which made networking actually pleasant as opposed to awkward. I went to lunch and dinner with several groups, and it was fun.

I was very pleased that the group seemed so open and anxious for patient advocate involvement. After all, if there’s any group of people in the world who should have some non-clinical interaction with people that have genetic disorders, it’s this group of people. GRIN!