Paulette cares to serve as a Program Coordinator because …

In KS&A’s Spring 2004 Newsletter, The Even Exchange, Paulette provided an explanation for her interest in X and Y chromosome variations and why she cares to serve as KS&A’s Program Coordinator for the pediatric and adolescent XXY populations.  In this article, Paulette stated:

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 karyotype 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 karyotype, 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 at or call KS&A’s offices toll-free at (888)XXY-WHAT and I will return your call.

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