About us (& Eloise)

This is us. Mallory the mum, Eloise the main star, and Brian the saintly husband.

eloisethetinyfighter @ gmail.com

Mallory (and Brian)

Brian and I are two Americans who moved to a tiny country called Estonia following a vision in 2012. We hoped for a baby for our 13 years of marriage and went through infertility treatments for 4 of those years. After 7 failed IVF transfers, and losing 2 babies in the 2nd trimester (including Eloise’s twin brother), Eloise became our tiny miracle in 2020.

About Eloise

Our little Eloise was born on January 29, 2021. We thought she was perfect, but doctors immediately suspected something was wrong. Within a month, genetics testing revealed our precious little girl was missing 19 million pairs of DNA. As most parents would be, we were devastated. At first.

For first-time visitors

Every week, on Sundays or Mondays, I usually write up a summary of what’s been going on with Eloise and our world. I write them to help me see how far we’ve come (because boy does it help). But, if you’re new, these blogs will be confusing and boring.

So if, instead, you’re into reading posts full of struggles, triumphs, and the raw feelings we’re working through as new parents to a special needs baby, you’re better off diving into all the non weekly update posts.

Like these:

Eloise’s syndrome

Eloise’s chromosome deletion is so rare there’s no name to it, but if you want to call it something, it’s 2q24.3. Or, specifically, Eloise has 2q24.3q32.1 deletion syndrome, which isn’t actually a “thing” in medical literature– and, no, neither Brian nor I are carriers, Eloise just won the genetic lottery. I was once told by another 2q24.3 mum that she heard that babies missing 5 million lines of DNA or more don’t make it past the first trimester. So the fact that Eloise not only made it to birth missing 19 million lines, but was the only one of 26 embryos of ours that actually survived to birth really does make her a miracle.

But back to her deletion. All of us have 2 sets of chromosomes, one from our mum, and one from our dad — XX for the ladies and XY for the dudes. Eloise has one set of completely normal chromosomes, and one set where she’s missing that chunk from the long arm (q) of chromosome 2. Specifically, her deletion points are from 166015395-185131531 which span 3 sections — 2q24.3, 2q31, up to 2q32.1. Most other kids “like” Eloise are missing portions from 1 or 2 of those sections, but almost never are they missing DNA from all 3 at the same time.

As I write this, I know of 4 other kids missing DNA from all 3 parts just like Eloise. Miraculously, these 4 kids are some of the highest functioning of any of the others in the 2q24.3 deletion family, in large part because, thankfully, their SCN1A gene is intact. This gene is in the 2q24.3 section, and, if yours is deleted, it will have a massive impact. Kids missing this gene almost always end up with medication-resistent epilepsy that starts in the first few months after birth. The effects of these seizures can, often, be really really severe.

However, for Eloise, she is actually missing most of this SCN1A, which is likely why her seizures started at 9 months. And likely why, as I write at 13 months, we haven’t been able to stop them.

What will happen with Eloise? Will her life be devastated, too, because only a part of this important gene is missing?

We don’t know. Kids whose deletions start before Eloise almost all end up very severely affected. Kids whose deletions start after Eloise almost all end up “high functioning” for the deletion (meaning they function, at best, at the level of a 12 month old). But Eloise is right in the middle. So we just don’t know.

Regardless, we are positive Eloise will need fulltime care for the rest of her life. If we look at the other kids like her, Eloise

  • will be non-verbal (although there’s a small chance she could have a few words, and we’re hoping to introduce an alternative communication device in hopes that it might help her “talk” to us)
  • will never be able to read or write (although she might be able to scratch out her name)
  • will likely need diapers into adulthood (although we’re already proactively working to change that)
  • will eventually be able to walk by age 4 or 5 if seizures don’t drastically reduce her gross motor development (although it could be as early as 2 or 3 if we’re lucky)
  • will be profoundly mentally disabled (there are no “mild” cases of this deletion)
  • will have a high likelyhood of behavioral issues, lifelong reflux, sleep problems, and a compromised immune system

But — with a little luck and a lot of love — we hope we will all share a lifetime of joy together despite all the complications that will most definitely come.

Her current struggles

To catch you up to speed, her life has been full of many battles to date which is normal for 2q24.3 kids — though Eloise has been spared quite a few problems so far.

Mostly, it’s been very painful reflux, extreme food allergies/intolerances (which meant my own diet was really limited for awhile), feeding difficulties, weight gain struggles (although she tripled her birthweight right before her first birthday), very delayed gross motor development, eyes that don’t quite move together, no consonant sounds, seizures that really started at 9 months (part 1, part 2, part 3, and part 4), and an immune system that seems to already be struggling.

But, if you’re curious, you can read more on the long laundry list of earlier issues we’ve had to face here.

Thankfully, as I update this at the age of 13 months, she’s doing pretty well considering her circumstances. She’s only had 2 hospital stays, she hasn’t needed a feeding tube, she hasn’t had craniosyntosis nor a cleft palate nor heart issues nor any surgeries, and she’s only on one prescription medication.

But there’s still a pretty good chance she might end up with a severe illness that sends her into a major seizure and we lose her — either mentally, or in real life. That’s scary, but we’re learning how to live with that realization.

Regardless, we are grateful for this kid.

Hugs from us.

Mallory, Brian, and little Eloise

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