Baby G and XXXXY Syndrome: The Diagnosis

Posted August 2, 2015 by Niagara Mommy in Baby G and XXXXY Syndrome / 0 Comments

How she found out about her son's chromosomal abnormality, known as 49, XXXXY Syndrome.

The last thing any mother expects when she’s pregnant is finding out there’s something wrong with her baby. Even less than that, does she expect something as rare as 49,XXXXY Syndrome. My son has a total of four X chromosomes and one Y, and this is my story.

How she found out about her son's chromosomal abnormality, known as 49, XXXXY Syndrome.

Thirteen weeks into my pregnancy, like a lot of women, I got screened for any fetal abnormalities. My alpha fetal protein (AFP) level came back extremely high. My midwife said it could very well be nothing, but sent me to a university hospital to make sure.

After an hour and a half long ultrasound, the obstetrician didn’t really see anything physical that would push the AFP level so high. I was a bit of a mystery at first, especially since my levels went back to normal a few weeks later. Speaking to a few high-risk obstetricians, we concluded that the raised AFP was a fluke, and that the spinal issues that would normally be seen, just weren’t there. “It’s a gorgeous spine.”, they said. I consented to an amino anyway, in preparation for any other issues he might have. Low and behold, he had three extra X chromosomes, for a total of four, and one Y.

Wow. How will having so many extra chromosomes affect Baby G?

Here’s the low-down. 49, XXXXY Syndrome is very rare, with varying degrees of issues occurring because of it, some physical, some mental. After receiving the news, I spoke to a genetic pediatrician, who was fantastic at listening to my questions and only telling me what I really wanted to know. At the time, I just wanted to have a baby. I’d had three ultrasounds, an MRI and an amino. I really only cared about what I could expect to see in the first year, as a result of these extra chromosomes. They told me I would see delays in milestones like crawling, walking, talking, etc. but not much else in the first year.

The doctors also told me that long-term, he may need help with learning in school, puberty would be a challenge for him, low sex drive (not a bad thing for a teen in my book), and worst case, he might be infertile. Overall, I left the conversation feeling very positive about the pregnancy and about what we could expect to see in Baby G.

After he was born, I went back to the genetic pediatrician for an assessment. She looked at him and said, “He looks totally normal”, not having most of the characteristics typical of the syndrome, other than low birth weight. She actually sent us for a blood test to confirm that his sex chromosomes were in fact XXXXY, which kinda made me smile. But yes, the blood test confirmed it.

So as I watch him grow over this year, I look forward to sharing what I’m seeing in his development. In the meantime, Baby G is happy, healthy and growing strong. He’s sitting up on his own, eating better, babbling, smiling, giggling and loving baby life!img_8575

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