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Information for Prenatally diagnosed X and Y variants

This section is for parents who found out via amniocentesis or some other way that their son or daughter will be born with an extra X and/or Y chromosome and have a rare genetic condition.

I can only imagine what you feel when you discover this news during pregnancy.  It is hard enough to find out at age 25 in February 1996 about my diagnosis, much less in your situation.  Regardless, you are very lucky to find out this news now.  You have the diagnosis, can learn about the condition, and do everything possible to help your son succeed.  You can meet others and connect with those who have dealt directly with this genetic condition.  There are many Facebook and other social media groups to connect you with people to discuss your concerns. They would be glad to help and answer any questions you may have. 

Though you may not have heard of these disorders before receiving your prenatal diagnosis, I was in that same place when my diagnosis occurred.  I have learned a lot and give back daily, helping others better understand their problems.

Over the past 25 years, I have spoken with and counseled hundreds of families in your situation since my diagnosis.  I speak from being there, having many symptoms but not knowing until after puberty and into my mid-20s.  I speak the truth and have seen many others go through similar decisions. I am well equipped to speak with you, your spouse, and your family and would be happy to do so.  There is currently no cure for this condition, but medication, specifically testosterone therapy, at least for XXY’s, makes a difference and thoroughly helps with quality of life.  Plus, this condition is manageable. The earlier you know, the better.  You can do so much so that your son or daughter can have a successful and fulfilling life.  

We need to be able to seek validation from others who have been there before.  This section is dedicated to those just finding out their child will be born with an X and/or Y genetic condition. 

If you have any questions or would like to schedule a time to speak with me, please e-mail Stefan.

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