Ava’s story

Just a couple of weeks shy of reaching six months old, Ava’s parents were told their previously healthy and happy little girl had only weeks to live. Their local hospital in Ireland couldn’t do anything for her other than make her last weeks as comfortable as possible. Here, Ava’s mum Aoife, and dad David, explain the devastating news…

David: “Ava had been a cheerful normal little girl and had shown no signs of being ill in any way until she had almost reached six months old. Aoife and I started to notice Ava wasn’t acting herself and that her stomach seemed to be swollen, so we took her to our local medical centre where she was treated for constipation. We visited the doctors numerous times with no conclusive answers but it wasn’t until Ava’s condition started to drastically deteriorate that everyone realised something was very seriously wrong. We were then sent to Crumlin Hospital, Dublin where we finally found out exactly what it was.

“We were told that Ava had an extremely rare metabolic disease, which meant she was missing an enzyme.  Aoife and I had never heard of missing enzymes before, so we told the doctors we would be happy to donate ours but it wasn’t as easy as that. It was at this point they told us her fate.

“Children born with this condition have a life expectancy of just six months and Ava was about to turn that age. Our local hospital told us there was no treatment  available in Ireland so there was nothing they could do to help other than make our daughter as comfortable as possible – she had just a few weeks to live. We couldn’t understand how it had come to this with no warning, with no real signs, and when our beautiful Ava had been her smiling self just weeks before – our life, her life, was being taken away, right in front of us.

“But then there was hope. There was a clinical trial taking place at Royal Manchester Children’s Hospital that could potentially help Ava – there was no guarantee but there was no decision for Aoife and I to make – we had to give Ava this chance.”

Aoife: “We needed to get Ava from Ireland to Manchester as quickly as possible because her condition was deteriorating at an unbelievable rate – I could see her losing the life within her. We were provided with a private jet by the clinical trials drug company in order to get Ava to Manchester in the fastest possible time and Crumlin Hospital sorted out all the documents and applications.

“I sat on the jet with Ava in my arms – I was losing my baby and I could see her slipping away from me. I looked out of the window and I didn’t think we would see Ireland together again.”

David: “We arrived at Royal Manchester Children’s Hospital on 18th March and I will never forget the amount of care and attention we received from all the staff. Ava received her first enzyme replacement three days later and  the moment she did we could see our little girl coming back to life.

“Ava was born on 26th September 2012 but we will always say she was given her second life on 21st March 2013 in Manchester.

“Since then, Ava has received weekly infusions of the enzyme replacement and we have travelled from Ireland every week to receive them. The moment she started on the clinical trial we saw a miraculous turnaround in her condition and she has become a very healthy, happy little girl.

“Ava recently celebrated her first birthday on the unit, where we all celebrated together – the staff became like a second family to us and they were as delighted as we were to see Ava make, what was to us, a miracle recovery. Just a week following her birthday saw Ava’s last weekly infusion taking place in Manchester as Temple Street Children’s Hospital in Dublin had become equipped to provide it to her.

“We are now settling into fulltime family life at home in Ireland but we and Ava will be visiting Royal Manchester Children’s Hospital every three months for check-ups. Previously to all this, we had never been to Manchester but now the city holds such a special place in our hearts and will be a part of Ava’s life from here on.”

Aoife: “Looking back over the months where it all began seems like an out of body experience that happened to someone else. When you look at Ava now you would never know she had been so ill and apart from receiving her weekly treatment neither would we.

“The trial provided by the clinical research facility* at Royal Manchester Children’s Hospital gave us our daughter back and we can now only hope that her case will go towards helping the drug being fully licensed. We’ve always known Ava was a very special little girl but this condition makes her more so, being the only child in Ireland to have it and one of just two in Great Britain, so to find a drug that totally counteracts it is more than we could have ever imagined when the news was broke to us. We cannot even begin to put in words how we feel about ours and Ava’s new life or our gratitude towards all the staff at Royal Manchester Children’s Hospital. But what we can do now is support the facility and Charity Team in helping to raise awareness and funds to support an extended research programme and facility to hopefully help save other children in similar positions to Ava.”

Watch Ava’s video:

Royal Manchester Children’s Hospital Charity is currently raising money to help fund research and the expansion of the Manchester children’s clinical research facility*, where Ava received treatment, at Royal Manchester Children’s Hospital.  Learn more about the charity and how you can make a donation.

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*Ava’s trial took place at the National Institute for Health Research / Wellcome Trust Children’s Clinical Research Facility at Royal Manchester Children’s Hospital, which is part of Central Manchester University Hospitals NHS Foundation Trust.