March is trisomy awareness month, and although many of us never shut up about how amazing our kids are, this month is particularly helpful for highlighting just how far our children and attitudes have come, and still need to go.
A chromosomal trisomy is when you have three copies of a specific chromosome instead of two, so think Down Syndrome (21), Edwards Syndrome (18), Patau Syndrome (13) etc. The extra genetic material can lead to a whole variety of disabilities and too often is fatal. Mosaic trisomy is when only some of the cells are affected, partial trisomy is when only part of the chromosome is duplicated a third time and partial is when only part is duplicateda third time in some of the cells…
In Xavier’s case, he has an extra copy of chromosomes 12 and 18 in around 1/3 of his cells, so he has 48 chromosomes in those cells and 46 in the rest. If Edwards Syndrome is rare (1 in 6000 live births) , mosaic is even rarer (just 5% of those cases) and with the trisomy in the 12th chromosome too, the odds are incalculable. He’s a very very rare jewel. And a very lucky boy.
He’s lucky because whilst for Xavier this caused his Congenital Diaphragmatic Hernia which nearly cost him his life (leading to ongoing Chronic Lung Disease for which he’s on constant o2) and congenital defects in his heart and circulatory system, he’s still here. Although all his hospitalisations and operations are secondary impacts of his wonky chromosomes, he’s growing and thriving. Regardless of the expectation for him due to the chromosomes and his prolonged ventilation, he’s smart and funny and knows what he wants (and how to get it) even though he cannot (yet!) speak a word.
When everyone told us the worst, I never thought I’d get chance to do play groups and cuddle my 21 month old to sleep. I thought we would be picking out a coffin and memorialising his short life. I have thought the end was here more times than I can remember and that fear doesn’t go. We have been told that nothing Xavier has its life limiting and that’s amazing news and not something we will ever take for granted, but the fear? Tha is real and ever present. We have come too close to the door to ignore its existence, just there down the darkened passageway.
Xavier is also lucky that nothing was picked up on any of the (many) ultrasounds. We’d have been steered towards prenatal generic testing. We’d have been counselled to have an abortion. We’d have had to fight for them to offer him the same medical help as any “normal, healthy” baby born struggling. I might not have found the information that I have now to fight for him, we might have been handed a baby to watch his slip from us in minutes.
That might seem like an over dramatisation but neither trisomy 13 or 18 babies are routinely offered the medical intervention at birth and beyond that Xavier needed. There are amazing people who have fought for changes both individually with their own child and to affect change across the board but internationally this is still a huge battle. There are finally doctors who are seeing these babies become children and young adults and they are slowly changing their minds. But it is still standard to offer palliative care, rather that the tooth and nail fight they put up for Xavier.
No child should be denied help based on the number of chromosomes they have.
So yes, Xavier’journey is complicated and it’s been hard but we have him and he’s doing so much better than they ever could have predicted. He’ll always be medically complex, issues like bronchiolitis carry a higher risk for Xavier than most children, surgery will always be more complex, there will be things he simply can’t do but everything he can do, he will. Every battle, we’ll be there to back him up; every right will be fought for the win, and he will continue to make us proud.
We know we’re lucky and always I think of those I know whose children have died as a result of their trisomy. They live on in our hearts.