Last weekend, I attended the Abilities Expo to administer my thesis survey. I wanted to get people from many different demographic groups, and I thought this would be an interesting community to include.
The Abilities expo is an expo for anyone with any type of disability. Most of the exhibitors were showing products for individuals using wheelchairs, but there were also services for those with intellectual disabilities and disability advocacy groups as well. I saw a few law firms and some groups that fight for disability rights in politics.
One young man came up to me and asked me what genetic counseling was. I could tell he had some intellectual disability, but I explained what we do as clearly as I could, and he thanked me and walked away. The second day of the expo, he came back with his father. The father was a loving, soft-spoken man who shared with me that he himself has a learning disability, and so does everyone in his family. He said that his son was diagnosed with autism and had cognitive delay. He then asked me what genes are and asked if there is a test that could help his family figure out why his son has autism. I did my shpiel on cells, genes, and DNA, and he seemed to understand a little. I gave him the NSGC website and told him to look up a counselor near him. I hope he does.
Another family came up with a child in a wheelchair with an obvious disability. They told me that they had gone to genetic counseling over 8 years ago and never went back. They said what their son had is very rare; “One of his chromosomes is stuck on another chromosome.”
I said, “A translocation?”
“YES! That’s it! You’ve heard of it? Our doctors don’t know what to do with him”
I explained that translocations actually aren’t that rare in the genetics community and asked if they knew what type of testing their son had. Turns out, he was diagnosed by karyotype, and that was the end of the genetic testing odyssey. I explained that 8 years ago we did not have the technology we have today and that if they wanted to find out more, they could see which genes were actually deleted with a what we call a microarray. They were so excited, I gave them the Genetic Alliance pamphlet and NSGC website to find a genetic counselor and they told me they were so happy I was there to tell them this.
A young man, about my age, in a wheelchair rolled up to the table and agreed to take the survey. He had hipster glasses and a unique mustache. I told him that it reminded me of the pink mustache logo from a very popular ride sharing company. He laughed and said that he works for that company and just moved to the San Francisco tech scene. We had some friends in common, so we chatted a bit about the area. He then told me that he has had a lot of genetic testing but currently has no diagnosis. He wants to have a whole exome test done to find out why he is slowly losing control of his muscles. He does not fit into any known type of muscular dystrophy but is a client of the MDA. He has not seen a geneticist to his knowledge. I offered to stay in touch in case he has any questions about genetic testing.
I had many people come up to me to tell me that they or their loved one has this syndrome or that mutation. I was able to see people with some of the syndromes I’ve studied in school that I hadn’t seen in one of my clinics yet. However, the most shocking experience was my conversation with a man who came by with his daughter in a wheelchair. She was very dysmorphic and small for a 10-year-old. I asked if he had ever heard of genetic counseling and his response,
I briefly explained genetics to him, and he told me that his daughter was never given a diagnosis and they think it was something that happened during the pregnancy. He asked if there could be something wrong with her genetics that made her that way. I gave him the genetic alliance pamphlet, and I really hope he can utilize it.
There were a few people on separate occasions who walked by and said something along the lines of, “Oh, genetic counseling? I have mixed feelings about that.”
With a smile I would say, “Really? I’m interested in what you mean by that.”
Everyone said the same thing:
They themselves may have been terminated had their parents received genetic counseling before they were born.
1) I absolutely understand this, and they are right, some of the conditions that these people have are detectable, and some parents do choose termination; however, not everyone does.
2) We would NEVER tell someone to terminate a pregnancy.
3) When that baby is born with a rare disorder or disability, we are the ones who help identify it, explain it, and find resources, support, services, treatment options, and research. We are the ones who make sure that child is getting the services he or she needs to thrive. We work with the family, not just the individual, and we act as a case manager, advocate, and educator. BUT, these people are only aware of the negative prenatal side and the stigma attached to it.
After all of these conversations and more, I started thinking—I really believe these types of events are an incredible opportunity for genetic counselors to raise awareness and better educate this specific community of individuals. If I worked in a clinic, I would have been able to refer so many potential patients, but just spreading awareness and informing potential patients of the benefits of genetic counseling and other genetic services felt very rewarding. This particular expo takes place every year in 6 major cities throughout the country, yet no one from medical genetics has ever reached out to them.
For the next expo, I’m going to make a list of the local genetics clinics and genetic counselors for each specialty so that I can actually give these people names and connect the right counselors/physicians to the right patients.
I want to thank the Genetic Alliance for providing me with some really great material to hand out. In combination with my own brochures and a genetic fact sheet, I really feel like I made a positive impact in this community!