At the time our son was diagnosed with Trisomy 5Q, there was only one other child documented with a similar duplication. Thus, it goes without saying that this condition is extremely rare. And yet, Tony’s symptoms are very different. Here’s part of why:
“Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved…” Common symptoms can include intellectual disability, developmental delays, and behavioral challenges, but there can be so much more.
You can read the full quote (it’s short) from the Genetic and Rare Diseases Information Center Here:
https://rarediseases.info.nih.gov/diseases/5351/chromosome-5q-duplication
For Tony, his duplication also passed through part of his NSD1 gene, disrupting the functioning and leading to Sotos Syndrome. Because of that and his other diagnoses, it is difficult to tell exactly which of his symptoms are being caused by his q arm duplication. I have often wondered over the past couple of years who that other child was, and what her family was going through. Because the sheet given to our family by the lab included symptoms for the other child (but no other information), I knew there had to be many challenges.
My daughter recently was hunting on-line for a report in her class she was writing about her brother’s diagnoses and found posts from themighty.com written by the mom of the other kiddo who has this condition. Because this was posted publicly, I am including first names here. Daniella wrote that whenever she searched for someone else with her daughter’s diagnosis, all she found was their story.
No longer. Tony’s story is very different, in part because the length of his duplication is different and he has other conditions as well, but he too has this diagnosis. I have read some of Naylah’s story, and I am in awe.
I have copied a link to part of her story here so that you can read about their journey.
https://themighty.com/2016/02/my-child-has-trisomy-5q-this-is-what-it-means-to-be-rare/
Update 10/5/2019: I was contacted just this week by a family from another country whose kiddo was recently diagnosed with Trisomy 5Q. She let me know that since I put this page up originally, a Trisomy 5Q facebook group with a handful of other parents has formed. I am not on facebook, but if your kiddo has recently been diagnosed and you are, here’s the link: