Trisomy Awareness Month

March is Trisomy Awareness Month. It doesn’t garner the same attention as Autism Awareness Month or scream “join the cause” like Cancer Awareness Month (both equally important causes). Maybe it’s because of the infant mortality rates associated with many of the trisomies; maybe because it doesn’t have a celebrity spokesperson. Who knows. But I certainly knew little to nothing about trisomies before having children. Sure, I knew of Trisomy 21 (Down syndrome) and had briefly skimmed the page in my pregnancy book about Trisomy 18, mostly ignoring it because a chromosomal abnormality in one of my pregnancies seemed next to impossible.

 

Trisomy 18 (also known as Edwards syndrome for the geneticist who discovered it in the 1960s) happens when there are three copies of chromosome 18 rather than the typical two. There are variations of the syndrome: mosaicism (not present in every cell), translocations (a rearrangement of parts between chromosomes), deletions (part of a chromosome is missing), and full (where all cells contain an extra copy). How was that for a genetics lesson in a nutshell? Of course, it is much more involved than that and there are even greater variations or combinations of trisomies present in some individuals.

 

Zane has full Trisomy 18. Every cell in his body contains an extra copy of chromosome 18. The implications of this are great and the statistics are grim. It is not rare as it is second only to Down syndrome and occurs in 1:7000 births according to SOFT. Approximately 50% die in utero. Of those babies actually born, 50% more die within the first month of so of their lives. Less than 10% celebrate their first birthdays. For those who survive (like Zane) there are over 130 possible anomalies, some of which are hugely serious: heart issues, renal problems, central apnea (we know that one from personal experience), and ongoing medical interventions throughout the life of the individual.

 

So why is Trisomy Awareness Month important? Because there are many families affected by trisomy—not just 21 or 18. Many have lost children before, during, or after birth. Those children were family members—as important as any other person in their household. There are numerous families (like ours) raising children with trisomies. And it is not easy. There are many rewards for caregivers and families, but also great hardships and the constant need to advocate. And more often than not, there is very little support for families who have become intimately familiar with a trisomy. Many feel isolated and alone.

 

So I simply ask for your awareness. You may be surprised by the number of people who have been touched by trisomy, but silently carry this around with them. Talk about missing loved ones with parents, acknowledge their children as the beautiful babies or kids they were, or simply hug a caregiver. We are a strong bunch. I know this from all the amazing moms (and some dads) I’ve met during our journey. But we’re not invincible.