Kleinfelter’s… what is that?
The Doctors Office
The Doctors Office
I took my youngest
son in for a scout physical. His regular pediatrician couldn’t see him so we
had another great Dr. at the clinic see him. Towards the end of Austin’s
physical the Dr. asked if he could talk to me outside for just a minute. I had
never had that happen before at the Dr.’s. It was a peculiar feeling. In the
hallway just outside the examination room the Dr. started to tell me that my
son had small testicles for his age and that could mean he possibly had a
genetic disorder by the name of Klinefelter’s. My mind was hearing what he said
but it was in a whirlwind immediately with a gazillion questions. He proceeded
to tell me that excess height, small testicles, and sparse facial hair were all
signs of Klinefelter’s, all of which my son had. I asked him if it was I and my
husband’s fault. He said no, it was a genetic fluke that he lucked out with. Yea,
I had a small sigh of relief that we as parents were not to blame. He proceeded
to tell me that one main thing that was associated with the disorder was that
he wouldn’t be able to have any children. My heart sank. Why I asked? The
doctor continued to explain to me that Klinefelter’s is a genetic disorder
where the male has two x genes and one y instead of one x and one y (XXY vs.
XY). I must’ve had a look of bewilderment because he paused and put his hand on
my shoulder, then said he would let Dr. Cannon (our regular pediatrician) know
and that he probably would have my son get some genetic testing done, to
confirm whether it is in fact Klinefelter’s. We then went back into the
examination room where my son was quietly sitting. I couldn’t bear the thought
of telling him that he wouldn’t be able to biologically have children. The
doctor was so great, he told my son what he had found and that he would
probably need some additional testing.
My son was fine with that. He acted like the doctor found out he had
strep throat or an earache not a major genetic disorder. He was oblivious to
how his whole life would change. I on the other hand, was heartbroken for him,
because I knew that he was not ever going to be able to experience the birth of
his own child. On the way home we talked as though nothing had happened, but I
knew the discussion would need to take place at some other time.
The Reaction
I went into my room and just cried. My heart ached so much for him but he had no clue of how things would be different. I later called him in to my room and we sat on my bed and talked. I had looked up a lot of information on the internet so I could give him an idea of what was ahead as well as for my own piece of mind. He sat quietly and listened, while I proceeded to tell him that he probably had a genetic disorder and that it was a fluke or a random action that he ended up with it but it wasn’t anybody’s fault. We discussed a few of the symptoms, and that his probability of having children was very low if nonexistent. I did tell him he could adopt. I said, at least now we had a diagnosis for him. We knew he had issues growing up with anxiety, not being able to focus (ADHD), learning disabilities and not being able to discern things in a social situation, As well as being very shy or withdrawn. Now it all made sense! We were relieved to know there was a name for what he had and that we could find information to help us deal with the situation. His reaction, well he was very satisfied and relieved to know there was a name for what his condition was, we didn’t have to guess anymore whether had had Asperger’s or something else. He was kind of excited to find out more information.
The Reaction
I went into my room and just cried. My heart ached so much for him but he had no clue of how things would be different. I later called him in to my room and we sat on my bed and talked. I had looked up a lot of information on the internet so I could give him an idea of what was ahead as well as for my own piece of mind. He sat quietly and listened, while I proceeded to tell him that he probably had a genetic disorder and that it was a fluke or a random action that he ended up with it but it wasn’t anybody’s fault. We discussed a few of the symptoms, and that his probability of having children was very low if nonexistent. I did tell him he could adopt. I said, at least now we had a diagnosis for him. We knew he had issues growing up with anxiety, not being able to focus (ADHD), learning disabilities and not being able to discern things in a social situation, As well as being very shy or withdrawn. Now it all made sense! We were relieved to know there was a name for what he had and that we could find information to help us deal with the situation. His reaction, well he was very satisfied and relieved to know there was a name for what his condition was, we didn’t have to guess anymore whether had had Asperger’s or something else. He was kind of excited to find out more information.
The Testing
Since then, he had genetic testing done and it did confirm that in fact he had Klinefelter’s Syndrome. Some of the other tests they did were GH (growth hormone) and FSH (follicle stimulating hormone) levels to see where his testosterone levels were. We went to see a Pediatric Endocrinologist to have him explain what all the tests meant. Basically his testosterone levels were running high so the doctor didn’t think he needed any additional testosterone. It was like a furnace running all the time to just keep the house warm, but it was still working. Long term would it present problems he didn’t think so. As far as for not being able to have kids he told my son “just because you can’t have kids doesn’t mean you can have sex whenever you want”. Austin got a kick out of that. I’m sure it was the farthest thing from his mind. We just had to do a yearly check up with blood work to watch his levels, if things changed then we would address it then.We did learn you had to draw the blood for the testosterone levels in the morning.
Complications
Sometimes men can have breast tissue with Klinefelter’s, leaving them at risk for breast cancer. Other complications can be ADHD, varicose veins, learning disabilities, and osteoporosis. Most men don’t find out that they have Klinefelter’s until puberty or when they are trying to have children and find out that they are infertile. It is very common, 1 in 500 males are affected. Early intervention is important for these individuals because they can have learning or speech issues. Behavior issues such as shyness or anxieties or depression need to be addressed as well. Another important issue is that there needs to be a distinction on who should be diagnosed with Klinefelter’s or just XXY. Should Klinefelter’s or KS be only given to males or should it be called the XXY because females can have low testosterone and breast development also. We also need to become aware of those who have XXY and don’t identify as male so they aren’t considered weird. The other reason for awareness is so that those males with KS don’t have to struggle with beliefs of being inter sex, or half female.
Since then, he had genetic testing done and it did confirm that in fact he had Klinefelter’s Syndrome. Some of the other tests they did were GH (growth hormone) and FSH (follicle stimulating hormone) levels to see where his testosterone levels were. We went to see a Pediatric Endocrinologist to have him explain what all the tests meant. Basically his testosterone levels were running high so the doctor didn’t think he needed any additional testosterone. It was like a furnace running all the time to just keep the house warm, but it was still working. Long term would it present problems he didn’t think so. As far as for not being able to have kids he told my son “just because you can’t have kids doesn’t mean you can have sex whenever you want”. Austin got a kick out of that. I’m sure it was the farthest thing from his mind. We just had to do a yearly check up with blood work to watch his levels, if things changed then we would address it then.We did learn you had to draw the blood for the testosterone levels in the morning.
Complications
Sometimes men can have breast tissue with Klinefelter’s, leaving them at risk for breast cancer. Other complications can be ADHD, varicose veins, learning disabilities, and osteoporosis. Most men don’t find out that they have Klinefelter’s until puberty or when they are trying to have children and find out that they are infertile. It is very common, 1 in 500 males are affected. Early intervention is important for these individuals because they can have learning or speech issues. Behavior issues such as shyness or anxieties or depression need to be addressed as well. Another important issue is that there needs to be a distinction on who should be diagnosed with Klinefelter’s or just XXY. Should Klinefelter’s or KS be only given to males or should it be called the XXY because females can have low testosterone and breast development also. We also need to become aware of those who have XXY and don’t identify as male so they aren’t considered weird. The other reason for awareness is so that those males with KS don’t have to struggle with beliefs of being inter sex, or half female.
The Future
I have had some time now to digest all the information. At times I still don’t feel like I know enough to help my son but step by step we will get through this together. Having this boulder thrown in our path won’t stop us, bit by bit we will break this apart until we feel that we are confident to be at peace with the condition and to be in a position to be able to help and support others who are struggling on understanding Klinefelter’s Syndrome.
I have had some time now to digest all the information. At times I still don’t feel like I know enough to help my son but step by step we will get through this together. Having this boulder thrown in our path won’t stop us, bit by bit we will break this apart until we feel that we are confident to be at peace with the condition and to be in a position to be able to help and support others who are struggling on understanding Klinefelter’s Syndrome.
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