If it wasn’t for my son being diagnosed with Trisomy 13, I would have never known that March was the month for Trisomy Awareness. It is amazing what you wouldn’t know or even still don’t know because you haven’t came across an event that lead you to it.
I mean, how many people know what Trisomy is let alone Trisomy 13. I didn’t. Another name for Trisomy 13 is Patau Syndrome and yet, still I had never heard of that name. There are different Trisomys of course. In fact, Trisomy 21 is actually another name for Down Syndrome.
A great website to learn more and I think even to get involved would be Trisomy.org. I remember in my search to learn more about what my son was diagnosed with, I came across many websites and that site was one of them.
Trisomy 13 is a chromosome defect that occurs in 1 in 10,000 live born infants. Imagine the number for the babies that do not even make it to birth… high. Trisomy refers to three copies of one chromosome instead of the normal of two and for Trisomy 13 it is, as probably guessed, chromosome 13.
There are many defects that can occur with a baby that has this chromosome defect such as a heart defect. For us, we found out about his heart defect (Truncus Arteriosus) first… well we found out something was wrong with his heart first then found out what the heart defect was exactly after… but I guess that’s a given. Finding out about the heart defect first, and what it was gave us hope because it could be dealt with. It would’ve required many surgeries for many years but it was doable regardless of prices. Our baby boy could live. Then we found out about Trisomy 13.
It’s funny… well I guess not funny but interesting that we had two doctor appointments that day, the first was with the heart specialist and the second was with the chromosome specialist. I remember when the heart specialist told us about the defect. I remember leaving relieved because it was doable. Then we got to the other doctors office and recieved the worst news. Our son had Trisomy 13. Trisomy 13 babies usually don’t make it to birth and even if they did, they soon die afterwards.
As a mother of one already, I knew I had to be strong for Neveah but it still was devastating. I wasn’t sure how to process that information. My son was more than like not going to live and even if he was born he still wouldn’t live long. How do you even react to something like that, especially after receiving some hope before that… then have that hope whisked away. Even the chromosome specialist seemed to expect my child not even to live to be born. She asked us if we wanted an abortion. I was 27 weeks when we found out about the chromosome defect. An abortion was certainly not an option then and it would never have been one before then.
So there’s some of my story as a mommy with a son who had Trisomy 13.
I hope if anyone is reading this that they help spread awareness for Trisomy. Awareness for any defect or disease or sickness, etc. so people know.