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Freddy - diagnosed at (almost) 3 years old Our Story

When Freddy was born, in June of 2004, we had no idea he was different than any other child. He appeared to be a beautiful, healthy baby boy. It was actually my sister that noticed Freddy’s first delay. She delicately pointed out that Freddy should be sitting up on his own at 6 months, but he wasn’t.

He started walking at 16 months, but needed help getting from a sitting to a standing position until the age of 23 months. His trunk muscles were very weak.

My sister informed us of a group that could help called ECI (Early Childhood Intervention). It’s actually a government sponsored group that helps children with delays (motor and speech). Upon contacting them, Freddy began receiving occupational and speech therapy in our home from the age of 21 months. In June of 2006, we consulted with a neurologist about Freddy’s motor and speech delays. At 24 months, he was about 12 months delayed with is gross motor skills and speech. This was based on specific standardized testing performed by ECI.

Our neurologist ran extensive blood work, MRI etc. Our next step would be a muscle tissue biopsy, however there didn’t seem to be signs of anything debilitating, so we decided to hold off on that and work wit ECI on further therapy and revisit the muscle biopsy option later.

A few weeks shy of Freddy’s 3rd birthday we decided to go ahead with a muscle biopsy, as we needed closure and a final diagnosis. I took Freddy to the neurologist for a routine checkup, but upon arrival at the clinic, it was obvious that there was something wrong. The neurologist walked in and immediately sat down, put his head in his hands and said: “I know what’s wrong with Freddy - It was in the initial blood work, but I missed it…” At first we were outraged but realized that that wouldn't do anyone any good, so we forgave him and decided to keep him as our neurologist (after all; he was 100% honest and now we knew that we had his undivided attention and commitment to make it up to us). The diagnosis was: 47, XXY - Klinefelter’s Syndrome.

Sabrina (Mom)

Klinefelter Syndrome Global Support Group - www.klinefelters.org