More Personal Stories

/More Personal Stories
More Personal Stories2018-10-12T10:38:39+00:00

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 info@genetic.org. 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!

47,XXY

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.

Molly and Matthew G. • Matthew’s Story

Matthew smiles for the cameraMy son Matthew is 26 years old and was diagnosed with Klinefelter syndrome when he was 14 years old.  I credit his pediatrician who thought that his enlarged breast tissue was something more than just puberty.  He sent us off to CHOP (Children’s Hospital of Philadelphia) where we received his diagnosis.  At the time, there was very little information out there and the Internet, as we know it today, did not exist.  So, I researched as best I could, and explained what I had learned to Matthew, so that he understood what he had wasn’t anything bad.

Matthew started testerone therapy immediately.  Finding the right medium was challenging though.  He tried patches, cream and then finally injections.  Matthew continues taking the injections to this day.

Matthew was always bullied and made fun of at school.  It broke my heart.  At the age of 16, I took Matthew to see a doctor at a Comprehensive Breast Care facility and the decision was collectively made to perform a double mastectomy on Matthew.  It didn’t change everything, but it sure did change a lot for Matthew.  Matthew returned to school with a new found confidence.  Matthew tried college, but without special accommodations, he left after two semesters.  Matthew has been working for FedEx for the last 6 years.  He has good pay, excellent benefits and the opportunity for advancement.

At a Fall Mid Atlantic Support Group meeting, held at Nemours A. I. duPont Hospital for Children in Delaware, we were told about Ryan Bregante and his positive messages on social media about Living with XXY.  Upon returning home, Matthew looked him up on Instagram and has been inspired by him.  We went back to the Spring Support Group meeting so that Matthew could meet Ryan in person.  The two have quickly become friends and stay in contact with one another.

Matthew takes a selfie

In Matthew’s own words, “ I’d like to tell you about my life’s two greatest accomplishments.  First is flying and traveling alone.  I had planned it for a while but never had the courage to do it before, but with the support from my mom and Ryan, I did it!  I went to Nashville, TN for a long weekend.  Once I got to my hotel room I had anxiety and felt home sick but with the support and encouragement from my mom and Ryan, I left my room and went on the most amazing adventure!  I got to see and do everything I had wanted to do.

My second accomplishment is my weight loss journey.  It’s been a hard struggle for me to loose weight, but I am now down over 20 pounds.  I cut out a lot of sugar and eat less carbs.  It helps having support from family and friends as well as an awesome trainer who pushes me to go beyond what I think I can do.  I feel better about myself when I work out and I plan on keeping up with it.  I also plan on taking another trip back to Nashville to see even more things there, now that I know I can do it.  I hope that my story inspires anyone else with anxiety to know that anything we set our minds too is possible.”

Gary G. • A Challenging Road, a Life Saved
Michael-Glissman-Foto
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.

Kent Fletcher • My Life as 47,XXY

I was born 72 years ago in August 1946. Dr. Klinefelter had only made his “discovery” 4 years prior, so, nothing was significantly known about the anomaly at that time.

I had a “normal” childhood as a child of the 50s and 60s. I ran, I jumped, I took normal boyish chances like anyone else in my peer group.

True to form, I wasn’t a fighter either. I stayed out of the military for as long as I could. The draft in 1969 ended that. I joined the Navy. I was the oldest in my company in boot camp, 23 yoa. It was a struggle, but I succeeded.

I was sent to a Class “A” school in Norfolk, VA. I was having fun, learning “the Navy way”. However, at the final for the class, I literally “drew a blank”. I was set back two weeks. A major blow to my psyche. After missing one question on the final test, the second go round, I was ordered to Navy Flag Plot in the Pentagon.

I survived four years at the Pentagon. I moved back home in 1974, for there were no jobs available for much of anything. I reenlisted in November 1975, and got married in December 1975. I was stationed in Pueblo, Colorado. Divorced on my birthday in 1987.

In August 1976 while at a 2-week Navy school in New Orleans, LA, my breasts suddenly swelled, the nipples being very, very tender. Having to wear a uniform every school day was mean, even putting on a T-shirt hurt. I returned to Colorado late August, went to see my family doctor. The normal questions, have you changed your diet, are you on illicit drugs, what legal drugs are you on. Noticing my testicles were very small, a sperm test was ordered. Nothing. Nada. Zilch. Not even any dead floaters.

I was sent to my first endocrinologist, Dr Robert Alsever, in Pueblo. Based on a base buccal smear, and some x-rays of the pituitary gland, he made the initial diagnoses of Klinefelter Syndrome. Same day was the first of many, many deep IM injections of 350mg testosterone in the gluteal muscles.

After trying all the venues of testosterone since 1976, including deep IM injections, sublingual pills, patches, gels, I finally found a local doctor who administered the subcutaneous pellets. $500 every six months, which the VA or Medicare or TFL will cover, I’ll beg, borrow from my life savings to stay with that method. Such a great feeling to be consistent for 5-6 months.

I’ve suffered two heart caths, no problems, other than a very slight build-up of plaque, somewhere along the route from my groin to the top. I did suffer a DVT in my right one leg 2 years ago come January. Scary, ended up in a hospital overnight. Two clot-buster shots in my belly. On a blood thinner for the foreseeable future. Neither cardiologists I’ve had since I’ve been in Texas (38 years) have indicated any serious concern.

I’ve developed arthritis in my feet. Some days I have “crinkly toes”, some days very noticeable, others not so much. I’ve also developed arthritis in my fingers, for which I began taking Turmeric every other day.

Oops, forgot something. My military endocrinologist was at Fitzsimmons Army Medical Center in Denver, from 76 to 79, when I got out. He was rather concerned about the possibility of my getting testicular cancer. At that time there were no known studies on the long-term effects of massive testosterone injections. I asked him about taking the testes out, he sent me to surgeon. I saw the surgery summation, small, about the size of an English pea, no mass. So I was surgically castrated and had two prostheses implanted. Two years ago, summer of 16, I had the right prosthesis replaced. Something was amiss with the tendon connection, very sore all the time.

My breasts started paining me about a month ago. My doc ordered up another round of blood drawing. The testo is aromatizing to estrogen. Now on an estrogen blocker, once a week for four weeks. Anastrozole/Arimidex 1mg. At least most of the pain is gone now, but the swelling is still noticeable by me.

Let’s see, what else? Oh, yeah. Toward the end of September, I developed a shaking in my hands that I just could not control, along with a shaking of my head. I had been to my doc for the breast swelling just a week before, and he told me he had noticed the head shaking then, but thought nothing of it. The hand shaking got to the point I couldn’t keyboard at all. On a medical form, I couldn’t print the letters and numbers that corresponded to me in the tiny little blocks without extreme difficulty. Doc said it isn’t palsy or Parkinson’s, but likely something is amiss in my neck or shoulder bones/spine. Anyway, he put me on Propranolol/Inderal 2-10mg, 3 times daily. There is hardly any shakin’ goin’ on. If the pills don’t completely clear it out, he’ll refer me to a neurologist.

I was diagnosed with dysthymia in 81-82. Have been on antidepressants since that time. I was taking Nortryptaline 100mg at night. Shrink at Shepherd Air Force Base in Wichita Falls, TX, upped the dosage to 150mg. About a week later, my breasts swelled with tender nipples again. I called my endo at Brook Army Medical Center in San Antonio. By the time I got in to see him a week later, I’d already figured out the culprit: 150mg Nortryptaline. Immediately changed over to Sertraline, Zoloft to be exact, 100mg daily. I switched to Lexapro 10mg a few years ago. Got my doc to up the dosage to 20mg a couple of weeks back, feeling much better on a daily basis. Just need to find my last shrink, see if she’s still practicing. I also take another anti-depressant, Trazadone 50mg at night to sleep. If I don’t take it, I don’t sleep.

So, you see, my life as 47,XXY is really not bad. I’m smart, educated, a Navy Vet, on Social Security, and Medicare, and Tricare For Life. My body isn’t the “typical” 47,XXY, no broad hips, narrow shoulders. I have all the medical needs a 46,XY would have at my age, 72.

47,XXX (Trisomy X)

Please share your story of life with Trisomy X, either yours or your child’s, by emailing it to info@genetic.org at AXYS. Editing help freely offered!

47,XYY

Please share your story of life with 47,XYY, either yours or your child’s, by emailing it to info@genetic.org at AXYS. Editing help freely offered!

48,XXYY

Please share your story of life with 48,XXYY, either yours or your child’s, by emailing it to info@genetic.org at AXYS. Editing help freely offered!