This was originally shared on Eloise’s facebook group the day we got the news of her genetic deletion at 5.5 weeks old in March 2021.
Picture of a freshly-showered, hope-filled Mallory from earlier today. And a cute baby Eloise who had a wonderful, fairly calm and happy morning. Because we had no idea what was to come.
Maybe we were in denial, but we never expected this.
We went in to the geneticist’s appointment not even nervous. Today had been amazingly calm and wonderful and I thought maybe we were headed on a positive trajectory.
But that quickly changed.
Part of her chromosome 2 is missing. A big part. 19 million lines. The deletion she has? There are only around 100 known cases in the entire world. So the research and sample size is just… well, it’s hard to know.
But they had so many of her issues down to a t
- issues with hands and feet
- problems breastfeeding
- size so tiny not even on the charts
- reflux
- intolerance to cow’s milk, gluten, soy, egg, and nuts
And apparently seizures are in many of the kids’ future. So we need to mentally prepare for those.
But the one thing that seems certain in the little literature out there is that she will likely be severely cognitively and physically delayed. Most were walking by age 4. We can’t tell if communication will even be possible.
Oh. And those cysts? The geneticist said she’s never seen cysts that large on a newborn’s brain. We’ll go back next week to do another ultrasound to see if they have grown or gotten smaller.
At the moment we are just trying to wrap our brains and hearts around the idea that Eloise may be somewhat of a vegetable for the rest of her life. All the while juggling baby girl who has suddenly become fussy night baby when she was calm day baby today.
The reality is that it’s possible that studies have only been done on the most severe of cases because they were identified. Maybe there are many others out there with the same deletion but are pretty normal people but no one knows the deletion is there.
I want to hold on to the hope that she’ll be the latter, but it just feels like every time we hold on to hope, that we get more bad news. We seem to win the lottery of “this is highly unlikely.”
And just this morning I was thinking, “Wow. We can do this. I feel okay.”
Oh man. I know we will eventually be okay, but right now, I don’t think either of us.
And, not to worry, I don’t think there are any right words in this situation. It just sucks.
Adding links to 2 articles written about her gene deletion if you want to read them. (The book PDF with photos is a little wonky for reading. Just follow the page numbers at the bottom.)
Deletion of Chromosome 2q24-q31 Causes Characteristic Digital Anomalies: Case Report and Review
Eloise The Tiny Fighter 