tolerate it

I wake and watch you breathing with your eyes closed
I sit and watch you
I notice everything you do or don’t do

dessner, a. swift, t. (2020). tolerate it. on evermore.

Authors Note: Because of course I reference Taylor Swift whenever I can.

In this post, I reflect on how my mother and I have tolerated my diagnosis of achondroplasia for the past 29 years. When I hear, “I wake and watch you breathing with your eyes closed. I sit and watch you. I notice everything you do or don’t do.” I can’t help but imagine that’s what it’s like when a parent, specifically a mother of a child born with a rare genetic condition feels. And they just feel helpless that there’s nothing out there to help their child and in the middle of the night, all they can do is wake up from a nightmare of the fear of the unknown and just watch their child breathe in and breathe out and hope that there will never be a time that their child needs assistance breathing or worse, stops breathing.

---

On my birthday this year, I turned 29 – the age my mom was when she had me. I couldn’t imagine being a mom today. Someday in the future, I hope to be one, but not today. The difference between when my mother had me and whenever I have children someday is that as soon as I see a positive (+) sign on a pregnancy test, I’ll know. I’ll know there’s a 50% chance. A 50% chance that my child(ren) will be at 50 times greater risk of sudden infant death during their first 5 years of life than their future cousins, neighbors, and classmates. The day I see that plus sign, I’ll know…and knowing this puts a pit in my stomach today.

The day my mom found out she was pregnant with me, she didn’t know – she didn’t know that she was now part of this “80%.” During the nine months she carried me, she didn’t know that on the day I was born I would be whisked away to have multiple measurements and tests run on me only to be put in her arms, for the very first time, and told, “there’s something wrong.” I was her third child. This was supposed to be the “third time’s the charm” birth. It wasn’t. My birthday has never and will never be just my birthday. It’s also my diagnosis day. The day I was diagnosed with the most common form of dwarfism, achondroplasia. 29 years ago, no one even knew the cause of it until almost a year later when it was discovered that it was caused by a mutation in the fibroblast growth factor receptor three gene.

Every year when we celebrate my birthday, we tolerate that it’s also the day my mom was robbed of taking home healthy baby number three. Although I’ve had many, many wonderful birthdays throughout my life with cakes, parties, and presents that I’ll always remember — cakes, Mary-Kate and Ashley dolls, a sweet 16, and even limb lengthening(s). In the midst of all those years are a dozen war tubes, MRIs, and trips to various specialists, However, none of these birthdays can top my birthday last year. Last year, was the first time ever on my birthday that I was given the gift of knowing that every birthday from there on out would not be known as my diagnosis day anymore.

Last year, unbeknownst to you, the U.S. Food & Drug Administration gave me and my mom (and dad) the greatest birthday present I could’ve ever hoped for and did for many, many years. On my 28th birthday – November 19, 2021, you, the FDA, approved VOXZOGO (vosoritide) for injection in children with achondroplasia aged 5 and up. You gave what I have called for the past almost 365 days which is HOPE for achondroplasia and now, I’m asking you directly to grant me my birthday wish this year — hope for newborns with achondroplasia. Hope for babies with achondroplasia. Hope for those under 5 — hope for those who are at 50 times greater risk of sudden death than their siblings, cousins, classmates, and neighbors. Hope they won’t have trouble breathing in the middle of the night. Hope that they won’t miss out on friends’ birthday parties because their arms and legs are too small for the rock climbing wall and their spines too delicate for the trampoline park. Hope for their mothers who want nothing more for their children to not struggle with health and simple everyday things.

November 19, 1993, I was born and diagnosed with achondroplasia.
November 19, 2000, I was gifted Mary-Kate and Ashley dolls.
November 19, 2009, I turned sweet 16.
November 19, 2010, I gained new and longer legs – legs I may have had if VOXZOGO was available for my mom to give me at such a young age.
November 19, 2021, BioMarin received FDA approval for VOXZOGO injection for children with achondroplasia 5 and over.
November 19, 2022, I turn 29. The age my mom was when she had me. The age I hope I am when VOXZOGO is approved for children with achondroplasia 5 and under so I will not have to continue carrying the pit in my stomach today.