Apr 5, 2021, 2:24 PM

My name is Elenna Kathleen McKinstry. I am nearly two years old (end of May). I have an older brother named Alaric; he will be four in October.

I was born only slightly small, at 6 lb 5 oz, but doctors were worried because they don't like it when a mother has gestational diabetes and a small baby. I spent my first week in the Special Care Baby Unit at Hutt Hospital with Mum staying with me and Grandma and Dad looking after Alaric. I didn't grow very fast, and had some feeding issues, with "failure to thrive" being written in my Plunket book. At eight months old, I was given an NG tube which pumped supplemental formula into my tummy. That took me from below the 0.001 centile of weight up to the 0.1 centile line. As soon as I turned one year old I started drinking Pediasure and then Fortini - it was such a relief to get that tube out of my nose! Now I am nearly two and while I eat a range of solid foods, I don't eat much, less than half a cup of food a day. Unless we're talking yoghurt... or Mum's dessert, ha ha. I drink two 200ml bottles of Fortini every day instead.

Doctors did a lot of tests on me to find out why I was small and not growing well; sometimes my heels were quite sore from all the blood tests. In February 2020 my paediatrician ordered a DNA microarray analysis test and the results came back the week before lockdown. One of my 15th chromosomes is missing a bit near the end, from 15q26.2 to 15q26.3. Apparently, there are about 23 genes gone, and the one that most people are concerned about is called IGF1R. This stands for “insulin-like growth factor 1 receptor” and it primarily concerns growth. There are just over a hundred people in the world with this syndrome - which is rare enough that it doesn't have a name. I am the only one diagnosed in New Zealand.

Others with this syndrome have a large range of problems. Most have some degree of developmental delay, and speech delay or even non-verbal communication is common. Physical issues include: problems with the heart, kidneys, diaphragm, palate; eye problems and/or hearing problems; lax joints or movement problems. Even epilepsy or seizures. Babies are typically small and have trouble feeding, and lack of appetite may persist. We are proportionately small; that is, head size and length and weight are all smaller than normal. Most children show at least modest catch-up growth when given growth hormone.

I have very mild symptoms for this syndrome - I've made it up to just under the 3rd centile for both height and weight. I do have some of the recognised facial features (small 'pixie' jaw, and delayed teeth, for example). My heart and other organs seem to be fine. I also have some speech delay - I say only four words: Up, Beep (on my nose), Cat, and Mama. I understand a lot more than I can say and can follow two-step instructions.

My Mum is above average height and my Dad is very tall. My older brother is very tall for his age - at 3 1/2 he is taller than most of the nearly five-year-old boys about to leave Playcentre. My parents feel that without growth hormone, I may be too short to do some important things, like driving a car without pedal modifications. Forget "you must be as tall as this sign to enter" carnival rides. I'd always be carded at bars too! My parents feel that to grow to my target height, I need growth hormone from an early age.

This is where my story depends on the revision of New Zealand's healthcare system. Because I'm at 3rd centile now, I don't meet the main criteria for getting growth hormone. There isn't a provision for "or another diagnosed growth-related chromosome problem" in the growth hormone application forms. It's -3 SD and <25% height velocity, Turners syndrome, or renal insufficiency. There isn't a lot of leeway anywhere on the form. So, my family and friends all signed the petition to make our healthcare system Fair for Rare. I think I got about 60-80 signatures, Mum was proud.

Let's see what a difference we can make, together!

Elenna McKinstry
(Written by Mum, Rhiannon McKinstry)

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