This contribution is brought to you by Rachel Vandiver. Thank you for sharing your story.
In order to fully understand my personal experience as an Advocate Leader at the ACMG Conference for 2015 I feel it is necessary to give a brief history of my personal experience with genetics. For me, genetics was just something I briefly learned about in science courses during college. Something to learn for a test and then move on. That was the case until 2007.
I was pregnant with my second child and received a phone call from a nurse that one of the test I took indicated that there was a problem with my baby. I was immediately sent/referred to a high risk doctor and a genetic counselor. When I arrived I was told I must make a decision that no mother wants to ever hear or think about. I was told in very black and white terms that they were pretty positive my daughter had a fatal genetic condition and would not survive. My daughter ended up being stillborn about 2 months later. Testing at birth reveled that she did not have the fatal condition they had warned me of.
I became pregnant again during 2008 with a son. I had many problems with the pregnancy but due to my prior experience with genetics that just left so many unanswered questions and heartache I adamantly refused all genetic testing and even discussion of it. My son was born 5 weeks early and spent 6 weeks in the NICU. Traditional marker chromosomes were tested and normal but he suffered from many different symptoms and had many delays. Over the course of 5 years we visited multiple doctors and had very little information as to what was going on other than there was a small duplication on part of Chromosome 11.
During 2013 we moved from TX to Alaska and I became pregnant again. The pregnancy was again filled with complications that were unexplained and I refused genetic testing. I did see a genetic counselor but our discussions were pretty limited by willingness to communicate at that point. My daughter was born 7 weeks premature and spent that long in a local NICU. Because of the information I gave them on my above listed son’s duplication my daughter was referred to a geneticist that comes to Alaska monthly. He ordered high resolution testing and she was found to have the same duplication as my son. But this geneticist knew of 2 syndromes associated with that duplication and sent off for additional methylations testing. We finally had some answer as to what and why for not one but two of my children. He also referred me to an organization for my children’s syndrome that has been the greatest help in getting them appropriate care.
Around the time of my daughters first birthday I was presented with the opportunity to apply to come to the Advocate Leader Program. I came to this conference unsure of really what to expect. When I first read the session titles and descriptions I became worried that I was in over my head. As a mom, with a business degree a lot of what I saw was pretty intimidating and foreign and combined with my negative past experience I was unsure if I could personally benefit and share this knowledge with others in my home state. That all changed the morning I attended my first advocate leader breakfast. I was introduced to a group of parents from all over the US and shared a common bond with them immediately as we went around the room and introduced ourselves and told our stories that led us there. Most of the other parents in the group are already pretty heavily involved in advocating on a public scale. I am just starting my journey and have learned so much from each and every one of them. I learned that what I feel and have felt is normal and that I have the power to help not only my own children but others from the state of Alaska and across the country. I have learned that there are a network of people, including parents, doctors and other advocates all wanting to help individuals with genetic condition’s receive the best treatment and care possible. I was surprised at the deep emotional connection I made with the other advocates in the group. I am confident that I will stay in touch with many of these advocates for years to come.
In addition to the other parent advocates the genetic counseling students who attended with us made such a huge impression on me. These students who are all set to graduate very soon offered to me a unique up close perspective into the “other side” of the equation. I saw that they had very different goals and intentions than my previous experiences had led me to believe. They were all very willing to help explain complicated terms and we definitely bonded with them as they heard our stories. I do believe that they will be better genetic counselors with the unique perspectives that we could give them and that they will understand better the patients sitting across their desks for years to come. I also know that I will be a better patient to the genetic counselors I meet in the future with my children.
Our last lunch session we had the extreme pleasure of meeting Dr. Summar. I very much enjoyed getting a geneticist honest open opinions in a small group setting.
I was beyond amazed at the advances in technology available to the genetics professionals that I saw throughout the sessions and in particular throughout the exhibit hall. I do believe if some of the newer technologies had been available a few years ago my son would not have had to wait for 5 years for a diagnoses and treatment. I was also interested to learn of all the emerging preventative genetics coming available. I find it amazing that this information could be used to prolong and/or save the lives of individuals in the future. What an exciting development for us all. One thing that I really did struggle with in those same discussions was how and when the genetic professionals would share this information with a patient. There was some discussion in calculating to determine if a test was worth the cost to the individual during one of the sessions that I struggle with on a personal level as a patient advocate but can understand on a broader horizon based on the presentation.
I met several vendors in the exhibit hall that I personally am very excited about. I came home and shared the info I learned about some of the genetic resources out there with my local advocacy group because I am sure that they will be able to help guide other parents using these resources I brought back. I plan on further sharing these resources whenever possible.
I also was able to attend a poster session done specifically on my children’s rare disorder and was able to help that genetic counselor that prepared it with additional resources for the affected child’s parents.
For me the greatest take away from the event was knowledge, resources and the personal connections I made. I would never have had these without this program and the chance to attend this conference. I can’t wait to share these with anyone and everyone I can.