Category: Baby G and XXXXY Syndrome

Baby G and XXXXY Syndrome: Some Research

Posted August 21, 2015 by Niagara Mommy in Baby G and XXXXY Syndrome / 0 Comments

I mentioned here that I would write more on Baby G and 49, XXXXY syndrome, and now that I have a minute to myself, I can finally delve in a little deeper.

So, as I explained, Baby G has three extra X chromosomes.  Essentially, according to the information I have here, it can lead to a variety of issues, but here are some of the characteristics that I’ve observed so far in Baby G:

  • Low birth weight, he was 5lb 2oz
  • low muscle tone, causing floppiness, not a lot, but some low tone
  • unusual features of the hands and feet, club foot, overriding toes and small hands and feet.  Baby G has an overriding toe on his right foot…I am told that his great grandmother had that as well…?
  • alpha fetal protein screen was high, while the ultrasound looked normal
  • pinky finger curves inwards…so does mine, actually.
  • moving to solid foods delayed…Baby G took his sweet time getting the hang of solids, only finally picking it up at 7 1/2 months.  However, it was also at this time he was prescribed glasses for farsightedness, and could then actually see what I was shoving in his mouth, so…?
  • verbal skills delayed…Baby G doesn’t babble as much as as B did, and he did not cry at birth. He will let us know when there’s something wrong, hungry, tired, etc. but in between not a whole lot.  He’s always been extremely alert, alluding to the strong visual skills characteristic.  He’s extremely observant, especially when it comes to his big sister. Again, knowing now that he’s far sighted and has wee baby glasses to help him see things close up, I’ve noticed a marked difference in babbling, movement and eating.  He also started sitting up on his own at that time, so any delays I thought might have been delays, may not have been.
  • Speech is most likely to be affected, signing used to communicate. This one I am anticipating, as I said he doesn’t babble as much as I would hope, and his giggles aren’t really full-on baby giggles either; they sound more like “cough-laughs”. But we used basic “please” and “thank you” signs with B, as well as “all done”, so sign language will be in full swing in the coming months I think.
  • Delays in sitting, crawling, rolling, walking…sitting up took him awhile. Even now when he sits, most of the time his legs are straight out in front of him.  He doesn’t do a lot of leaning forward yet either.  Tummy time was difficult at first, but is now not really an issue.  His once stiff straight legs are now loosening and learning to bend freely without help. He’s rolling over to reach toys now and can grab different objects with different textures.  I anticipate crawling within the next two weeks.

It’s interesting to read the research I have on 49,XXXXY, and to see how each family has been affected.  Some boys have severe respiratory infections, most beginning in the second half of the first year and persisting through mid-childhood.  Some boys have minor heart issues, some only speech and behavioral difficulties.

I’m nervous, and a little excited to see exactly where Baby G will fall in among his peers. The research I’m referencing here actually comes from a nurse who had been told that a baby had been born with the same condition as her son.  And there she was with real websites, information and her home phone number if we had any questions.  I’ll forever be grateful to her, and to the universe for connecting us so fatefully.

Here are is a link to the Unique website that she provided me, for anyone out there who might be interested:

Rare Chromosome Disorder Support Group

www.rarechromo.org

I’ll post more links and updates on his progress in the coming weeks😊


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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Hugs,
Vickie