Alone No More
By Virginia Cover
In 1987, well before the Internet gave easy access to genetic information, my husband and I received a prenatal diagnosis of 47,XXY, or Klinefelter syndrome. We had excellent genetic counseling, and decided that if there were any issues, such as learning disability or speech delay, we could address it satisfactorily.
But there were challenges. Few medical or educational professionals were prepared to provide expert guidance to us, especially when our son was also diagnosed with an autism spectrum disorder. They all asked me if I knew of any link between 47,XXY and PDD-NOS (pervasive developmental disorder, not otherwise specified), which is a mild form of autism. Of course, I did not.
The few articles we had read mentioned nothing about autism. We added ASD to the challenges he had and that we dealt with on a daily basis. I have to say that we felt really alone at the time.
Our own families were very supportive of us but they also were puzzled by the lack of information about this surprisingly common genetic condition. If 1 in 600 boys and men were affected, why did we not know anyone else with an extra sex chromosome, and why did the professionals tell us that they really were not familiar with these genetic conditions?
Then one day my mother sent me a copy of a letter sent to Dear Abby. I wrote its author, Melissa Aylstock, and discovered Klinefelter Syndrome and Associates (which she had founded, later becoming AXYS). A year later, I attended my first conference, where I discovered other families with similar challenges. I especially enjoyed hearing from adults about how they had established themselves in careers despite contending with learning disabilities.
Our family also began attending New York area support groups. We discovered that our son John wasn’t alone in having a diagnosis of mild autism in addition to Klinefelter syndrome. Families traded names of doctors who had some specialized knowledge of Klinefelter’s and its impact on adolescents. We also exchanged information through the KSA listserve. Through the conferences and the newsletter, we learned about a brain imaging study at the National Institutes of Health. John participated in this study for eight years, and each time we went to Washington, we met additional families with whom to network.
Through the years, we found various professionals who took special interest in X and Y chromosome variations. They were able to help John progress through puberty fairly typically. He had teachers and psychologists who helped him graduate from high school with a Regents Diploma. But most of our emotional support came through the local support group and by attending family conferences.
I am glad that AXYS has become a valuable web-based resource for those affected by X and Y chromosome variations. The clinic consortium would have been so valuable to us during childhood and adolescence. Although it came into being after John was no longer a child and he already had a group of medical providers, I am glad it is there for all those who are newly diagnosed.
We now look forward to attending the family conferences every other year. My husband and I always go home with new knowledge and fresh perspectives. John is just happy to spend three days hanging around with other young adults who understand exactly what he has experienced in life. AXYS is the most important charity that we support annually.
John has progressed slowly but steadily as an adult. He had one false start in college but is now a sophomore, taking classes on a part-time basis. He has been able to work part time and is currently taking a vocational training program in computer maintenance and repair. John lives independently in a condo and has some support through New York State services for adults with developmental disabilities. We are grateful to all that AXYS and its community has helped us through over the years.