Feb 28, 2019, 9:36 AM

Our precious daughter Evie is four years old, and was born with several medical issues. It wasn’t until February last year that we got a diagnosis for her, and whilst we knew she was unique, we didn’t know just quite HOW unique! Evie was diagnosed with a recessive autosomal genetic condition named Infantile Hypotonia Psychomotor Retardation Facies Type 1 (IHPRF Type 1). Whilst we haven’t been told a lot about IHPRF, we have been told that Evie is one of approximately 12 people in the world, and the only person in New Zealand, to be diagnosed with this condition. So, she is literally one in a billion!

As the link between the condition and the mutation is relatively new, there is very little research available, so we are not sure what we can expect for Evie’s future. Evie has low muscle tone which makes her very floppy. She can't hold her head up by herself for too long, or do any of the physical things that typical three years old do. She is yet to crawl or walk, but can sit independently for a short time. Evie is non-verbal. She also has an oxygen requirement - she wears oxygen when she sleeps to keep her oxygen saturations up. We had hoped that this issue would resolve over time; however, this has not been the case. She has feeding issues too - she is 100% tube fed through a mic-key button in her tummy to make sure she gets the calories she needs. And finally, she has epilepsy - she has suffered seizures since birth and was seizing frequently until she was three months old. She's now on anti-seizure meds which are currently keeping her seizures under control.

The past four years have been nothing like we expected it to be, in fact, far from it. It's been extremely hard to adjust to our new life, which consists of lots of hospital admissions, therapy, medications and tubes. It is very daunting thinking about the future, so in our house, we take each day as it comes. But rather than focusing on all the negatives, we like to focus on what Evie can do, rather than what she can't. She's got such a cheeky personality, her smile makes everyone's day and she absolutely loves people. One of her biggest motivators is The Wiggles - needless to say our household knows all The Wiggles songs off by heart!

Whilst life isn’t what we expected it would be for Evie, we (and a lot of other people), love her just the way she is.


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