Medical Advances Help Those with Klinefelter Syndrome
TWC News – 7/9/14
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Includes Video

Freddie is part of a picture-perfect family, but it’s what you can’t see that sent mom and dad scrambling for answers. Freddie was born with Klinefelter syndrome.

“He wasn’t walking until he was about 16 months, which was not overly late, but he couldn’t get from a sitting to a standing position until he was 2 years old,” Karsten Blok, Freddie’s father, said.

Klinefelter means Freddie was born with an extra chromosome.

“So it’ll be 47 XXY, and that can have some clinical effects,” Dr. Parviz Kavoussi, a reproductive urologist, said.

Some of those effects are hard to spot at Freddie’s age. Doctors may not be looking for Klinefelter or even know about it. Freddie himself was initially misdiagnosed.

“This neurologist, he didn’t know about it either,” Blok said. “He told us everything that wasn’t wrong with Freddie.”

The diagnosis finally came with a muscle tissue test. In older men, Klinefelter is easier to spot because of a major side effect.

“They will almost universally have a sperm count of zero. Some men will find very low sperm counts,” Kavoussi said.

So that means Freddie’s chances of a father were slim to none. Now, the odds are changing thanks to better knowledge and technology.

“About 70 percent of the time, we can find small pockets of sperm that we can retrieve and use that in combination with in vitro fertilization,” Kavoussi said.

It’ll be a while before Freddie is ready for fatherhood. In the meantime, his mom and dad are armed with the knowledge they need to make sure the rest of us know about Klinefelter.

Freddie’s dad has started an online support group for Klinefelter syndrome. For more information, check out klinefelters.org.

Karsten Blok has served on the AXYS board of directors.  He is an admin in the AXYS XXY Klinefelter Global Support Group on Facebook, and he conducts both virtual and in-person support group meeting for XXY.

PLEASE HELP SPREAD THE WORD…contact your local media to get news coverage for X and Y chromosome variations.