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28/Apr/2017

 

A rare kind of normal

Gemma Laragy-Hully

Imogen is our second child. Our beautiful, much-longed-for daughter to complete our family. She came into the world on 26 September 2016 a week early and weighing in at just 6lb 5.5oz.

Her size, along with a surprise addition of an extra digit on each hand and foot, a list of minor problems at her newborn examination and the fact she refused to open her eyes for close to a week following her birth all added up to a sense of unease.

In all likelihood, they said, they were all coincidental problems that were minor and fixable. A genetic test was organised that was meant to reassure us, and we took our baby home and tried to celebrate her arrival as best we could.

The news was not good. Imogen was missing part of a chromosome. It would mean she would meet all her milestones late and have moderate-to-severe learning difficulties.

She would also be small in stature, have slow growth, have possible heart and kidney problems (luckily, she has neither) and a one-in-three chance of epilepsy, which confirmed the jerks we had been witnessing as seizures.

It also explained her eyes not opening well, her extra digits and her sacral dimple. It’s a rare condition, with only 50 cases documented in the past 30 years.

I asked the paediatrician if her condition had a name. His reply: “Yes, well, it has numbers and letters – 3p25 deletion syndrome.”

He finished the appointment telling us she was still our daughter and she was beautiful, and we left with the only information he could give us - a printout on 3p25 deletion from a wonderful charity called Unique.

I looked at our sleeping, two-week-old daughter who now felt like a stranger. I saw a scary diagnosis for a life that was not meant for us, not our family.

Her deletion is a big one, and the 10.7mb of chromosome she is missing take with them 99 genes. We came home and cried some more.

I’m sad to say I didn’t handle it well. I wish I could say I took it in my stride, but I didn’t. I broke down.

I stopped eating, couldn’t see my friends and started having panic attacks on waking every morning. I didn’t see how life would ever be OK again.

But, five months on, I can definitely say it’s getting better. It’s still tough, it still hurts more than anything I’ve ever felt before and, if I had the chance, I’d give anything to take away the difficulties Imogen will face in life.

In her short life so far, she has been through two hospital admissions, two tests for epilepsy, one MRI scan, two plastic surgery operations, ultrasounds of every major organ, spine and hips, undergone lots of blood tests and seen more paediatricians than I care to count.

But she is so much more than that. She has learnt to smile, to laugh, to track objects with her eyes and reach for things. She can lift up her head during tummy time and grab her feet during nappy changes.

Imogen has a pretty big fan club for such a little girl. We’re determined to help her learn to do everything that comes so naturally to other children, but things we’ll never take for granted again. It will just be in Imogen’s own time as our family adapts to this new kind of normal.

You can follow Imogen’s progress at https://ararekindofnormal.wordpress.com/ You can also get additional support and information from the Northern Ireland Rare Disease Partnership. Visit http://www.nirdp.org.uk/

Are you having, or have you had, to cope with a sudden, life-changing medical condition?

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Charlie Lynn 28 Apr 2017 19:16

What a battle for Gemma, I will pray for her and her child each day I live on this earth.