There is no better insight into the uniqueness of each child born with an extra X or Y chromosome than by seeing him or her through the eyes of a parent. While no two children or family situations are alike, we trust you will find much to relate to in these reflections from those who have been down the road of parenting these truly exceptional children.
If you would like to submit your story for consideration on this page, send an email to the Gallery Administrator. The stories below represent just the beginning of what we hope will become in the coming months a robust collection of stories encompassing the full range of X and Y variations.
Your story could include tales of victory, struggle, cutest quirks and/or advice to others. Selections can range from 100 to 400 words, and a good photo in focus with your camera set to the highest possible resolution will be much appreciated! If you wish to retain some degree of anonymity, you are welcome to avoid using your (or your child’s) full name. Also, we ask that you not mention the names of specific doctors. Thank you!
Virginia C. • Alone No More
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.
Alana M. • Celebrating Differences
My son was diagnosed at 18 months. He is now 8. We take him to a speech therapist once a fortnight and he has a tutor for school. Although he has a modified IEP (individual education plan), he is doing O.K. at school. His strengths seem to be with people. He makes friends easily and quickly. He really knows how to have fun and is known for having a good time.
He is small for his age and skinny. He loves me more than anything in the world. He still holds my hand on the way to school and gets so excited about the simplest of things. He loves sport, but isn’t that good at it. He has a very laid back attitude and is very compliant both at home and with others. He is not on the spectrum. He learns a bit slowly but learns well. After years of speech therapy he is fairly easily understood.
To be honest, my son is awesome. He is loving and gentle and kind. One day he may change a bit, with hormones etc., but we have had a pretty good ride so far. All Klinefelter syndrome boys are different, just like all babies are different. I fight every day, for all of my kids. I fight to make sure that they have everything they need to help them to be the best they can be. Whether that is the best speech therapist, or with my daughter, a great dance school, I think that is what makes the difference.
Brenda D. • A Highly Social Delight
The little human in red is my munchkin with XXY. He is four months old and absolutely amazing. So far he has no delays but I know they may still come. XXY is a spectrum “disorder” for lack of a better word. A baby cannot have Klinefelters; they can only have XXY. That is a misconception I am still learning about.
Klinefelters is defined by the physical characteristics that emerge (or don’t) at the onset of puberty. One thing I am rapidly learning is that there is much contradicting information in the medical community. Interestingly, my baby has no developmental delays yet but he has more physical characteristics then most of the babies I have seen on the AXYS website. Clenched fists, deformed ear lobes… slanted eyes…one drooped eyelid.. space between big toes and remaining toes..caved in chest area. But he has zero health problems and is a little ball of personality! Babbles all day…eats baby food like he has been training for it his whole life…great muscle tone…very social…
So again, it is such a spectrum. But one thing for certain is these little ones are a delight!
Candace T. • The Importance of Support
My little guy is 3 and has been a beautiful addition to our family. He has the sweetest most loving personality. He seems to be progressing well in all areas, with the exception of expressive speech, which is very delayed.
He does get occupational and physical therapy support as well but he is within in the lower end of normal range in these areas. He is starting preschool and I have lots of support in place to help him with his delayed speech. I think with the right therapies in place and a willingness to learn, parents need not fear an extra x or Y chromosome diagnosis. It’s all in what you make of it.
Tracey D. • Strong-Willed, With Definite Opinions
My son is 7. He’s my second son and a beautiful child. If I hadn’t had the screening when pregnant I wouldn’t know he has a genetic variation. His behavior can be inconsistent but he’s borderline hypoglycemic due to his lean frame and fast metabolism. We manage this through diet and lots of meals/snacks. He’s strong- willed and definitely has an opinion even at this early age. He’s just like his brother. He’s just my normal little boy and I love him (both of them) to bits.
Would you like to help other parents, families and individuals benefit from hearing your story about a child diagnosed with 47,XXY between the ages of 7-18? You do not have to be a professional writer to make an impact on others. We will offer editing help to make sure your story comes out as you want it to. Just write an email to the Gallery Administrator to get started.
Gary G. • A Challenging Road, a Life Saved
It is really difficult to express all that AXYS has done for my son, Michael, and our family. When we finally got Michael’s 47,XXY diagnosis in 2009, he was sitting in jail on a failed probation, and he was looking at 10 years or more in prison for a series of minor but compounding criminal charges. He was extremely depressed, abusing alcohol and prescription drugs to self-medicate, and he was talking about suicide. The health professionals had pretty much given up on him, and we were all beyond hope and filled with despair.
Thankfully, his psychiatrist recommended genetic testing, and Michael was confirmed as 47,XXY. His diagnosis was delivered without any real guidance or recommendations other than, “He should start on testosterone.” There were a few current research papers available but the local health professionals seemed to lack awareness of what it meant to face the behavioral challenges associated with XXY.
Then one day we discovered the AXYS website and, even more importantly, a network of individuals who seemed to be more knowledgeable and available to provide information on getting the right kind of help for our son. I cannot begin to describe what this meant to our family at the time. It literally provided answers and hope where there had been none.
We were able to recognize that lack of comprehensive or appropriate medical treatment was typical, and it gave us the motivation and strength we needed to press for more testing, more support and more recognition by the court so it could understand this kid didn’t need imprisonment—he needed another chance.
I can confidently say AXYS helped save Michael’s life.
It provided us the information we needed to successfully advocate for our son after the initial diagnosis and through all of the challenges he has faced since then. I am confident he would not be alive today, nor having the success he has enjoyed, without the support and availability of the AXYS network. We have learned so much from the skilled professionals, families and the adults with XXY who are associated with the organization. It has compelled us to continue to be actively involved with advocacy and volunteer activities so that we can “pay it forward.” It is a great organization, not least because it may be one of the few groups in the world that truly understands the complex nature of being XXY.
47,XXX (Trisomy X)
Please share your story of life with Trisomy X, either yours or your child’s, by emailing to the Gallery Administrator at AXYS. Editing help freely offered!
Please share your story of life with 47,XYY, either yours or your child’s, by emailing to the Gallery Administrator at AXYS. Editing help freely offered!