Monday, December 22, 2014

Send Us Your Personal Story

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If you would like to contribute your story - and we hope that you will - please send us a Word (.doc) or simple text (.txt) document that is no longer than four type written pages in length including photograph(s) to the Gallery Administrator. Your story could include tales of victory, struggle, cutest quirks and/or advice to others. If you wish to attain a certain amount of anonymity, you are welcome to avoid using your (or your child’s) full name and town in the materials. Also, we ask that you not mention the names of specific doctors.
  

Personal Stories

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Adam with DolpinFor a number of years before learning there was such a thing as X or Y chromosome aneuploidy, I had been thinking about the differences between men and women, and how the fact that we live in a pervasive patriarchal discourse may limit mankind’s potential by constraining a male’s perception of reality as well as inhibiting a woman’s ability to usefully describe what she perceives in words.  Thus, when my wife, Leah, and I received a pre-natal diagnosis of 47,XXY for our first child in 1998, one of my first thoughts was that this diagnosis represents an extraordinary gift; and I today believe this more than ever.

Leah and I are blessed with an incredible 7-year old son, Adam, who is 47,XXY, who’s differences we celebrate and endeavor to find ways to help him appreciate and mature, and who’s challenges we face with open eyes and work diligently to minimize or avoid. 

      

Adam with SnakeFor these reasons, in addition to my earlier philosophical musings, I have a deep personal investment in helping to advance research and treatment for all persons affected by X and Y chromosome aneuploidies.  I have had an opportunity to meet a significant number of adults and children with these conditions, as well as their families and many of the top reseach scientists, clinicians and educators who work with them, and from these interactions have gained a richer appreciation for the challenges as well as the potential of boys, girls, men and women with these conditions. 

I continue to believe that there is reason to celebrate the unique qualities these individuals possess, and am convinced that an organization such as KS&A is essential to serving this population, to address support and education needs as well as to advance a research, treatment and legislative agenda that no individual can do on his or her own.




Paulette RothacherSubmitted by Paulette Rothacher, Program Coordinator

I live in Missouri with my husband and our three children.

In speaking with many other families I find our Klinefelter syndrome story is all too familiar. Like many others, since my pregnancy was not high-risk, an amniocentesis was not preformed. We had no idea our child would have a chromosomal variation. We also assumed the PKU testing would show if there was an issue.  We assumed wrong and had no one to lead us in the right direction until much later.

In the fall of 2001, Joshua saw Dr. Sarah Kirk for some learning and emotional difficulties. She suggested genetic testing. About six months after her keen suggestion, Joshua was diagnosed 47,XXY, at age 11. We feel blessed that Joshua was diagnosed when he was. It was a relief to finally have an answer after searching for an explanation for the differences and delays we’d long observed him as having. It was good to be able to treat the problem rather than just the symptoms.  For Joshua, it was a sort of a vindication. He had told us for years that he was different, and that his mind did not work the same way ours did.  And he was right!

In Joshua’s case, we had been to see specialists in many fields, including neurology, speech, auditory, psychology and psychiatry just to name a few.  Yet none of these professionals gave us a correct diagnosis – at one extreme, many of the physicians said that Joshua had High Functioning Autism or Asperger Syndrome; and at the other, some doctors insinuated the whole thing was simply my imagination.  Clearly neither of these ended up as being accurate.

With the results of a karotype test, after nine years of frustration and searching, we were finally relieved to learn the condition that was affecting him.  To me, it’s pretty obvious that nine years is far too long a time to arrive at a correct diagnosis – particularly for a condition that affects 1 out of 500.  Based on this experience, clearly one of my goals is to find ways to make it faster and easier for others to get properly diagnosed in the future. 

But my goals don’t stop there. The same day that the genetics office called us with the results of Joshua’s karotype, I began researching the condition on the Internet. Little did I know at the time that my own knowledge would quickly exceed that of most of the doctors with whom we later came into contact. While surfing the net, I came across the KS&A web site. This site provided us with a lot of good information and also announced a conference in Seattle. That October, Mike and I made the trek to Washington State in order to attend.

The conference was wonderful. The speakers were very informative and it was nice to meet some of the adult 47,XXY population. However for us, meeting the other families was the best part of all.  We were so impressed by the conference, and how important it was both to us and everyone else who attended, that I started asking about possibly holding a conference in Kansas City. This ambition was realized when I served as the 2004 Conference Chairperson, July 16-18, 2004, one of the largest in the organization’s history.

The 2004 conference is an example of my other major goal.  Beyond fostering a situation where there will be earlier correct diagnoses, I am interested in creating and disseminating sound information and displacing the “bad” research and blank stares I received with up-to-date information and useful recommendations.

In this regard, some of the goals I have are to educate the medical community to earlier recognize and develop a protocol to treat 47,XXY kids; to get information to the schools to make sure these kids are getting the services they need and not falling through the cracks; to get enough funding to help others who do not have the resources to attend conferences; to get new literature out there for everyone; to promote better public awareness and to provide continued support for our families.

We have extra special kids. While there may be difficult circumstances all around us, we need to focus on their bright future. This reminds me of the story of Peter, who was able to walk on water while focusing on Jesus (bright future) but who began to sink when he took his eyes off of Him and focused instead on the storm (difficult circumstances).

I have found that it is easy to focus on the difficult circumstances, but like Peter, I find that focusing instead on the bright future makes it possible to attain miracles. Yet keeping the right focus can be harder than it sounds, which is why I feel so strongly that we need each other. We can be the one to offer the hand to help out a family member in need, or a person with the condition.

Being a volunteer for this position is where my heart is.  It is what I am called to do.  Please let me know if I can be of any help in any way. You can email me at any time or call KS&A’s offices toll-free at (888)XXY-WHAT and I will return your call.



David Drexler

I'm a 56 year old XXY person. I was diagnosed at age 19 following delayed puberty. My childhood was tumultuous. I was full of anger and rebelliousness and I had ongoing scholastic failure despite an IQ of 128. Fortunately my mother was willing to spend hours every night using flash cards to drill me into learning what I had to. I was constantly getting in fights with my siblings and bullied at school.

At age 17 I went to France for an entire summer and had the opportunity to do my senior year at the American high school in Paris. Until KS reared its ugly head.

At age 18 when puberty didn't seem to be happening, my father took me to see an endocrinologist who put me on a huge dose of testosterone. Nobody warned me what this would do. It made me insanely libidinous, like a hunger that couldn't be satisfied. I had no one to talk to about what I was going through.

About this time I began to develop breasts. Typically 60% of XXY persons have significant gynecomastia, which can only be treated with mastectomy. I had that surgery over Christmas break my senior year of high school. It was a depressing time. My body was going haywire, my trip to France was cancelled, and there wasn't anybody to talk to.

My father was in a trade union which carried our health insurance. They refused to pay for the mastectomy on the grounds it was cosmetic surgery. The plastic surgeon sent the before and after photographs to the union hall with a note that my breasts would have looked good on a Playboy Bunny. Some guys at the union hall had it in for my father so they posted those photos on the bulletin board for everybody to see. But they paid up. For years I fantasized doing something awful to that surgeon.

The endocrinologist said he'd never seen a case like mine and advised my father to take me to the Lahey Clinic in Boston. The following summer we made a road trip out of it.

At the clinic they made me lie naked on a gurney while an instructor brought in an entire class of medical students for show 'n' tell on my body. I might as well have been some exotic insect under a microscope.

Then they gave me the bad news. I had Klinefelter Syndrome which is caused by XXY. The doctor who told me was cold and impersonal. He said I'd be infertile and there was nothing more could be done about it. He also told me I didn't need to take testosterone anymore but I might need it again sometime in the future if I became impotent.

When I got back home I went to a college library and looked up Klinefelter Syndrome in a medical encyclopedia. There was very little information; it said we are retarded and prone to sex crimes. That didn't apply to me so I figured the best thing to do was take the doctor's advice and just forget about it. Don't try to discuss it with anyone; keep it a deep, dark secret.

I wanted to get more testosterone but the doctor at the clinic had told me I didn't need it, so I wrote them a letter claiming I had become impotent. That got me a 6 month script. During that 6 months I studied hard and worked out daily. I lost a lot of weight, put on some muscle, and got straight As in college for the first time in my life. Then the six months came to an end. Nobody told me I could get injections. It had made a huge difference in my quality of life and they said I couldn't have it anymore.

At that point I decided to try to forget about Klinefelter Syndrome. The doctor had said there was nothing that could be done. So pretty much that's what I did.

Some 20 years after that and the dawn of the Internet lead me to search on Klinefelter Syndrome one day. I discovered an active net community and dozens of people who could relate to what I'd been through. I resolved to learn as much about it as I could and do my best to keep anyone else from having to face similar experiences.

In the meantime I started a career without benefit of testosterone therapy.

I flunked my way through grade school. Though I was tested with a sub-genius IQ, I had terrible self-esteem, I was rebellious, unmotivated. I wouldn't do homework even if I was interested in a subject. I flunked one of my final exams and would have missed graduating from high school had not the math teacher taken pity on me and added just 1 point to my exam score: he gave me a 65 (absolute minimum score to pass).

I went to college because it was the easy way out. I got my expense paid for and didn't have to work. But I didn't do any better there. I drifted through a couple years of booze, drugs, and partying until I flunked out. Then I worked a series of menial labor jobs: factory work, clerk at a fast food restaurant, even selling dope.

Finally, working an outdoor job cutting down trees and clearing brush, well, it gets cold in Upstate NY in autumn and I decided I'd had enough. I always knew I was smarter than other people, so why was I busting my butt for no money? One of the classes I had flunked out of was Introduction to Computer Programming. I went to the state's employment office, told them I had a university degree in programming. They started sending me out on job interviews.

The third one liked me. In retrospect, they just wanted someone who could do the job and work below scale. But they buttered me up and I went for it. I was to come back in 2 weeks and write a demo program for their programmer who was leaving, to evaluate my skills.

Two weeks was just long enough to learn it. I got two textbooks from a book store and read them both cover to cover. Two weeks later I went back and wrote the program. It worked right, no errors, did just what they asked. I got hired. Then they had me work in a different language than the one they'd hired me to do. Since I hadn't claimed to know that one, it was easy On the Job Training. I learned that one in a matter of weeks also, and was soon being productive.

I worked there for a year. When I left, I wrote myself a letter of recommendation for the boss to sign. I was proud of how I had started off and wrote about it. My boss refused to believe it. He said I was just making it up. No one could do that, he said.

That was in 1978. Since then I've done all kinds of jobs in Information Technology. I've programmed in various different languages doing various different applications. I taught myself internet from engineering textbooks and started the first ISP in my city (1995). I've been a rave promoter (5,000 people at the biggest one). These days I call myself a consultant. I'm expected to be able to figure out if I don't already know it. Everybody who works in this industry does the same. And I know a lot of us are XXY.

David Drexler
August 2011

Submitted by Diane “Diana” McNamara, Program Coordinator

Diane’s Story:

At 40 years old I was pregnant with my third child. It was 1991 and at eighteen weeks gestation I was advised to have an amniocenteses. Although I had forgone this test with my youngest daughter who had been born less that a year before, I felt pressured to go ahead with the test this time. What if the results were of something unknown?  I had my amniocenteses at one of the best and most prestigious teaching and research hospitals in Los Angeles. At twenty-one weeks gestation I received “the” call from my obstetrician that my unborn baby was a girl but with an extra chromosome in some of her cells. He told he did not know much about it except that it was a “mild” condition. Genetic counseling then followed. I was told that the prognosis for my unborn child was dismal and encouraged immediately terminate the pregnancy. I followed up with other geneticists in the field and received contradictory information. 

I then conducted my own research and found this genetic abnormality was part of “The Denver Study’  previously done by Dr. Arthur Robinson.  It was then I called Dr. Robinson in desperation and we spoke for an hour where he shared his experiences of his Trisomy X patients.  Dr. Robinson gave me hope and I continued the pregnancy with the support of my husband, obstetrician and family. My daughter was born healthy and happy.  I put the diagnosis of Trisomy X aside, as my daughter was perfectly normal and I was convinced that having three x chromosomes was not and would never be an issue. I now call this my denial phase.

My daughter did well until she approached high school; as her education became more complex, she began to develop learning difficulties. I sought assistance from the school district and multiple tests were administered; I was told that my daughter had no learning disabilities, she was simply unmotivated and needed to try harder. She did try harder but still encountered the same educational challenges and her self esteem plummeted along with her grades. Looking for some answers, I joined the list serves on Trisomy X to connect with other parents and to further educate myself on Trisomy X and learning difficulties.

I learned via a support group that a research study was being conducted at the University of California Davis on triple x syndrome. We decided to participate in the study and Dr. Nicole Tartaglia, a paediatrician at UC Davis, evaluated my daughter. Dr. Tartaglia educated me on Trisomy X and the known effects on learning and function encouraging me to obtain further specific testing and educational assistance. Dr. Tartaglia then introduced me to KS&A and an upcoming conference scheduled at UC Davis and I became a volunteer with the organization.

KS&A gave us an opportunity to understand that we were not alone and the conference turned our lives around. I obtained KNOWLEDGE, SUPPORT and education which allowed me to take ACTION on obtaining much-needed services for my daughter. She went on to be successful in high school and has just completed her first year of college.  I have continued to volunteer with KS&A and am forever grateful for the positive changes that have resulted.

Submitted by Lesley Petruk, KS&A Board Member Since 2008
Program Coordinator - XYY Population

Leslie Petruk and BrandonThe journey that my XYY son would lead me on when he entered the world was one I never expected. In an effort to emphasize my heartfelt passion and dedication to improving the lives of those persons and families who are affected by an extra Y chromosome, perhaps the best place to begin is by relating a few details about my own journey. 

When Brandon was 6 months old, due to a number of problems he was having, it was suggested that we take him for a neurological evaluation. Blood tests and some basic chromosomal tests were run, and sent off to a geneticist for evaluation.  A few weeks later, we were informed that Brandon was 47,XYY. We were handed a printout on XYY that the geneticist had downloaded from the Internet and were told: “Of all the genetic disorders to have, this is a pretty good one so you should be thankful.” 

Since neither the geneticist nor any of the medical professionals we saw could give us more than a half-educated guess or a blank stare, I committed myself to trying to locate and read everything that had ever been written about XYY and trying to seek out more knowledgeable professionals. I did this by staying up until 3 a.m. almost every night searching for information on the Internet and contacting specialists who might actually know something about the condition.

Fortunately, this research has provided us with a wonderful network for Brandon and has saved us from misinformation along the way. Such as the time when a physician’s assistant told us that since our son was XYY, he would probably have to be institutionalized as an adolescent. When I asked about her source for this advice, she condescendingly told me that I might want to do some reading on XYY. However, it was clear as our conversation proceeded, that I knew more about the condition than she did. 

At one point we were told that Brandon had a heart defect and would need open heart surgery. A week later, we learned that his heart was fine. On another occasion, following a neurological exam, doctors speculated that he had hydrocephaly and could require a shunt. This too turned out to be a false alarm. 

In November 2002, we took Brandon to have his 2-year MRI. The day before we were to leave for Christmas vacation, I received a phone call from my pediatrician who informed me that the radiology report stated that Brandon’s brain was demylinating, and that he could very well have a fatal disease. More tests ensued; and a week and a half later, the day after Christmas, we received word that the radiological report was incorrect. There were no signs of demylenation.

This was a pivotal moment. What a life changing experience it was to hear that I might lose my child and live with that possibility for almost two weeks. 

This resulted in a significant shift in my worldview. The experience made having a child with a chromosomal variation seem like a good thing in comparison, and something I should indeed be thankful for! 

Although there are still occasional days that I feel sorry for Brandon, or myself, I just think about Christmas 2002, and remember what a blessing he is. And as I watch him making such tremendous progress, I am reassured that the payoff is worth the effort.

It was through my 3 a.m. searches that I learned of an organization called KS&A, and made contact with some of the XYY parents on the “2Y” list serve. This eventually led to my introduction to Robert Shelton, KS&A’s chairman, who shared his vision for the future of the organization and the potential to better the lives of children and adults with chromosomal variations like Brandon’s. Robert informed me of KS&A’s interest in expanding their support network for all of the major X and Y chromosome variations, and recruited me as the program coordinator for the XYY population. 

I was easily sold on joining forces with a group of other people who are as passionate and dedicated as I am, and who have such similar goals. As a child and family therapist by trade, it comes naturally to me to want to empower others and work with families and children facing challenges.  It is my greatest desire to give parents and children with the news of this diagnosis accurate information and support that I had searched for, but to no avail. The empowerment of connecting with other parents who have been down this road can’t be underestimated. I am honored and excited to be a part of KS&A.

I have only begun the journey with my son, but I cherish every day and live my days more fully and in the moment, knowing what a true gift he is. My thinking has evolved from questioning, “Why was I cursed with a disabled child…?” to feeling “How awesome that this little boy has been entrusted into my care, and what an honor it is that I was chosen to be his mother…”

It is my hope that I can play a small role in supporting other children and parents, and engender hope as they struggle with the news of this diagnosis. Being a small part in educating, supporting others and furthering research efforts in this area is both exciting and overwhelming. Nonetheless, I feel called to do what I can, and am hopeful you will join us in these efforts. 

I look forward to meeting and connecting with those of you whose lives have been touched by someone with an X and/or Y chromsome variation.

  
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