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Home Menkes Stories Miles' Story

Miles' Story

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Miles’ entry into the world was dramatic and unusual, much like his little life has been since. He was born on the 25th of May 2009 two weeks earlier than his due date. He was a little guy, weighing in at 3155 grams.

Immediately after Miles was born we noticed that he had very unusual hair not unlike clumps of steel wool. Everyone, including the nurses and doctors, commented on it’s appearance, but did not investigate it further. Besides some noisy breathing that was put down to his traumatic birth he appeared completely healthy and we were assured that in a few days his breathing would be normal.

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However, this was not to be the case and Miles continued to sound like a steam train whenever he took a breath. He didn’t appear to be struggling to breath, it was just very noisy. He was also born with very sticky eyes that did not resolve themselves during his first few months. We tried breastmilk, eye ointments and antibiotics with no improvement. Eventually at four months old Miles had an operation to clear his blocked tear ducts.

Concern from the surgeon regarding the shape of Miles’ skull led to a lengthy journey through many specialists until we were referred to a geneticist around 2 months later.

Our appointment came on December 1st 2009 (expedited as I was then pregnant with our 4th child) and although the geneticist agreed that there could be a genetic issue with Miles she could not immediately work out what it was. The initial blood tests came back normal so the geneticist requested some tests for some more unusual genetic diseases.

On December 23rd we received a call from the geneticist. The results were all back and most were normal, except for his copper levels. From a quick Wikipedia search we matched up the Miles’ symptoms with Menkes disease and the diagnosis was confirmed by Prof John Christodoulou when he examined Miles on the 28th December.

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The first year of Miles’ life was a blur of medical appointments, doctors visits and tests. It was also filled with a lot of love, joy and great experiences for our whole family. We made a decision early on that we were in this together. We started Miles on the copper histidine therapy. We told our young children the truth about Miles and his condition, even that it is a terminal illness. Jeremy reduced his hours at work to 2 days per week which he works from home and we took the children out of school and home school them. Every day that we have together as a family is a true blessing and we value and treasure all the memories and experiences that we share together.

As Miles has grown he has had his share of tough times but all through it he has laughed and smiled and been the greatest gift we have ever received. On his first birthday he became a big brother to our darling baby girl Elspeth who arrived 5 weeks early just to share this special day with him.

He continues to do new and wonderful things that show us what an amazing and strong little boy he is. Most recently he has started waving to us when we say hello to him.

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Having Miles as my son is both the scariest and most precious thing we have ever been privileged to do. He lights up the room with his smile, his laugh has stopped people in their tracks in a church service, he has the ability to bring together people and has given us some of the most special and wonderful friends in the form of other Menkes parents.

I recently read a quote from Christopher Reeve, an amazing man who was able to see the positive when

others would be unable to;

“When you choose hope, anything’s possible.”

Nothing rings more true when your child has a rare disease like Menkes Disease.

We hope that by sharing Miles’ story that you will be able to see the little boys behind Menkes Disease, rather than just the disease itself, and what true blessing they are to all those who are privileged to know and love them.

 

Last Updated on Friday, 04 February 2011 03:51