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You've probably never heard of my son's rare disease, but I'm determined to change that.

My son George was born in December 2008. I was a newlywed with a honeymoon baby ready for the most exciting time of my life.

But three days after George was born, my husband and I knew something was wrong. Neither of us had had any sleep, and George was in constant pain and vomiting green bile. His stomach was like a football and distended.

The look on our paediatrician’s face after examining George was alarming. What he was about to tell us would change all of our lives forever.

He looked up at my husband and I said: “I think George has Hirschsprung disease. He is very sick and needs to transported to Sydney Children’s Hospital immediately.”

We cried the whole way and then the nightmare began.

George would go on to have test after test, daily irrigations to empty his bowels manually (something he couldn’t do himself), and then we found out he had enterocolitis – an infection in the bowel common with children who have Hirschsprung disease (HD) that can be fatal.

We were now fighting to keep our firstborn alive.

Hirschsprung disease
"We were now fighting to keep our firstborn alive." Image: Supplied
Hirschsprung disease
Gina with son George. Image Supplied
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We saw countless specialists and doctors and eventually it was confirmed that 30% of George's bowel was completely dead and would need to be removed. He would need life-saving surgery.

His surgery was the longest five-and-a-half hours of my life.

Afterwards, George was on multiple medications, had weekly visits to several specialists and would require many daily medical procedures to keep him healthy. I became a first-time mum and a nurse overnight.

I lived with severe anxiety, had postnatal depression and was in constant fear that George would catch enterocolitis again (which he did several times) or could die. The financial strain took its toll and we had to move in with family.

We were then told George would require genetic testing, as some children with HD carry what's called an RET gene, and if so he could have cancerous growths on his adrenal glands and thyroid. Thankfully he doesn't have the gene, but we were told this is a genetic disease and the chances of our future children having HD were very high.

Hirschsprung disease
"We were then told George would require genetic testing." Image: Supplied

George is now almost eleven. Over the past three years, he has had five procedures.

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Navigating this disease has always made us feel isolated, alone and fearful. We never had any support. Three years ago, I founded the charity Help for Hirschsprung Disease to share my story and connect with other families and find comfort, something I will treasure forever.

Hirschsprung disease mainly affects the large bowel, where cells are not formed in the bowel. In severe cases it can also affect the small bowel and digestive tract. If not detected in the early stages and treated, it can be fatal. It is a very unpredictable disease and every case can be different.

Earlier this year we would go on to discover that George also has an incomplete digestive tract. He has no sphincter at the end of his oesophagus, which has caused a lot of problems, pain and discomfort for him. He has a very loose stomach.

It's caused acid to burn his insides, erode his teeth and even affect his voice. In his doctor's words, “It’s like putting your hand in hydrochloric acid.” That’s what George’s insides feel like. Because of his burning he hasn’t slept a night through until early on this year.

He now sleeps on a hospital-style bed where he is elevated to physically keep the bile down.

He has missed out on many days of school and years of being a normal child. We are still seeing specialists and doctors regularly, something he will have to do for the rest of his life.

Hirschsprung disease
"We are still seeing specialists and doctors regularly, something he will have to do for the rest of his life." Image: Supplied

Two years ago George had a procedure called an appendicostomy, which enables George to empty his bowel every night. I insert a catheter straight into his large bowel from his abdomen and connect him to a feed bag like a drip, with medication that I mix together to help him empty his bowels manually.

This is something he cannot do on his own. This procedure can take up to an hour each night, and is something we never thought we would have to do for our son to have somewhat of a normal life.

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Help for Hirschsprung Disease has been running for three years - a huge achievement for anyone, and for me especially, because I've achieved this in-between caring for my son as well as my husband who had some major health battles last year.

We have managed to provide hope and support to families, donating stoma bears across all states in Australia (bears I was once making myself), toiletry kits, medical alert cards (that were designed with the Bowel Clinic at the Sydney Children’s Hospital in Randwick), toys, goodie bags, essentials for families in hospital and visiting families in need.

Hirschsprung disease
George with stoma bears the family donate to those in need. Image: Supplied

We have also hosted an amazing annual Christmas party at the Sydney Children’s Hospital in Randwick.

These past three years have been full of sacrifice and hard work, constantly raising awareness and finding new ways to support our bowel kids and our children’s hospitals. My main focus has always been to provide the support I never had, for our bowel families.

Every spare moment I have has been dedicated to this charity. Working from the hospital, putting my children to bed at all hours of the day, and all unpaid. Our bowel kids need this charity, because I know exactly how it feels to have no support and be alone.

Help for Hirschsprung Disease was chosen as a beneficiary of the 2019 Sydney Markets Cherry Auction, which was held on Wednesday 13th November. Since its inception 38 years ago, the Cherry Auction has raised over $1 million for a number of worthy Australian charities. You can find out more about the organisation here.

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