Dear Parents:

I am writing this letter to parents who have received a prenatal diagnosis of sex chromosome aneuploidy, meaning that your child has one or more extra X and/or Y chromosomes. First, I want to tell you that I have been in your shoes, having learned at 18 weeks pregnancy that I was carrying a boy with an extra X chromosome, a condition known as Klinefelter syndrome, or 47,XXY.

I also know that this diagnosis is an indescribable shock, and that it causes great apprehension for your child’s future. You may even have been told that you need to make a decision, quickly, about whether or not to continue with this pregnancy. So let me tell you a little bit of my story.

My son is now 25. He lives independently in an apartment, he drives, he can work, and he has also had girlfriends and hopes to get married in the future. I can tell you, however, that he had substantial delay in developing speech as a young child, along with low muscle tone and poor coordination, which is fairly typical of many children with X and Y chromosome variations. He responded well to early intervention, and largely caught up with his peers. Although he has an IQ in the normal range, he has significant learning disabilities and received special education services during school. He did, however, play violin and received a number of musical awards.

He is also kind, and compassionate, and has a great sense of humor. He plays golf and badminton, and although he dropped out of college in his second year because of his learning difficulties, he has determined that he now has the maturity to return, obtain the extra help that he needs, and complete a degree.

If I were to characterize John’s functioning on the “spectrum” of sex chromosome aneuploidy (SCA), I would say that he is squarely in the middle of the bell curve. There is enormous variation in how these children and adults present. In perhaps one­-third of kids, there are no learning disabilities and few other complications or signs of the syndrome. In the other two-thirds, there can be mild to moderate learning disabilities, but intellectual disability is rare.

Most adults with SCA establish themselves in careers and live independently. Many have satisfying relationships and become parents. Most adults will tell you that while it took them a bit longer to become independent than their peers, they have had good lives, even though they may have had some struggles in childhood and adolescence.

I can’t tell you specifically what to expect. I can tell you that parenthood is always both a joy and a challenge and that the mild or moderate disabilities that may be present in children with X and Y chromosome variations are manageable. These conditions are not devastating, either to the child or to his or her family.

When you know about the condition before birth, you have a great advantage. Without prenatal diagnosis, these conditions often cause such subtle symptoms that diagnosis and the therapies that can minimize developmental difficulties are delayed, sometimes by years. Children with SCA often are remarkably responsive to early intervention therapies, and to special education programs that target their difficulties with reading and with verbal and written expression.

When you are aware of the specific deficits that SCA may cause, you can more quickly qualify your child to receive the services that he or she needs. When parents are committed to learning about SCA and address developmental and learning difficulties promptly with effective therapies, potential problems can be minimized.

More good news: AXYS is committed to assisting families in helping their children live successfully with X and Y chromosome variations. The organization also provides substantial and ongoing support and education for adults with SCA. This website features a number of resources that summarize some of the childhood manifestations of SCA, and provide you with a listing of resources so you can learn as much as possible about X and Y chromosome variations.

Finally, I want to emphasize that these conditions are surprisingly common, affecting 1 in 500 children. You do not need to feel that you are coping with this news alone; our community is there for you to provide support and education that will help you promote your child’s development and well­-being.

Yours sincerely,

Virginia Isaacs, MSW
Author: Living with Klinefelter Syndrome, Trisomy X and 47,XYY: A Guide for Families and Individuals Affected by X and Y Chromosome Variation

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.