THE St Athan family of a little boy with a rare genetic disorder have raised almost a thousand pounds for the Wales Air Ambulance after holding a coffee and cake event to mark its 24th anniversary.
Jack Thomas, who had his first birthday last week, has a rare mutation of the PPFIPP1 gene, which leads to drug-resistant seizures, developmental delays, and blindness. The condition is so rare that it does not have a name. Jack is the only known patient with this disorder in the UK, and there are only 15 other children with the condition worldwide.
Jack has a sister and two brothers, Eliana, Charlie and Oscar.
His mum, Amanda, said: “Jack is so special. He has overcome so many odds since his birth, and we are so grateful for each day we have with him. When you have a child with a serious health condition, it is such a worry and reassuring to know that Wales Air Ambulance is there if needed.”
Amanda, 35, said: “As a mum of four, you know your children, and you know when things are not right. From around nine weeks old, my husband Nick and I noticed little things.
“Jack was not giving us eye contact. One day, he was particularly lethargic, not eating and floppy. One of his eyes kept turning outwards. A friend was with me at the time, so we took him to A&E.
“Whilst there, he suffered an awful seizure and he had to be resuscitated, that was the first time Jack was admitted to intensive care.”
Twelve days later, Amanda and Nick were asked to attend a meeting with Jack’s neurologist and genetic specialists.
She said: “They explained how we all have two copies of every gene, and there is a particular gene called the PPFIPP1 gene, and I am a carrier of a faulty copy and Nick is too.
“This has meant that both copies of Jack’s gene have a mutation or variation which has caused his neurodevelopmental disorder, which is a life-limiting condition.
“We have been told it is unlikely that Jack will ever learn to walk or talk and last December he was registered as severely sight-impaired.”
The Welsh Ambulance Service has attended Jack on eight occasions since September last year. Wales Air Ambulance clinicians provided support to ambulance crews on three of those occasions to assess whether Jack needed additional critical care at the scene. Fortunately, he didn’t.
at Cardiff Heliport.
Amanda said: “We call them our angels! I don’t know what we would do without them. They are just bundles of light, they calm you down and know exactly what to do.
“We are beside ourselves with worry when Jack is sick. It is so reassuring to have the support of the road ambulance and Wales Air Ambulance when he deteriorates.”
The Wales Air Ambulance charity relies on public donations to raise the £11.2 million required every year to keep the helicopters in the air and rapid response vehicles on the road.
The Emergency Medical Retrieval and Transfer Service (EMRTS) supplies highly skilled NHS consultants and critical care practitioners who work on board the charity’s vehicles. This advanced critical care includes the ability to administer anaesthesia, deliver blood transfusions and conduct minor operations, all at the scene of an incident.
Amanda said: “The first time we encountered Wales Air Ambulance was after Jack had a seizure. The rescue medication hadn’t worked and it lasted over an hour.
“We rang -999 and were told that the air ambulance team were listening in, and that they were going to send a link by text message.
“We were asked if we were happy to share a video livestream of him, to enable the clinicians to look at him. It amazed me how they could watch him in real-time and decide there and there.”
and Jack in the pram.
The GoodSam video streaming app enables emergency clinicians to instantly locate the caller and open their smartphone camera. The clinician is able to view the patient and decide whether critical care teams are needed at the scene. (https://emrts.nhs.wales/about-us/video/)
Jack has spent over 60 nights in hospital since his birth and needs care 24/7. Amanda, who used to work in social services, has given up her role to be his full-time carer.
Back in March, to mark Wales Air Ambulance’s 24th anniversary, Nick and Amanda organised a coffee and cake event.
Amanda said: “Our brilliant family and friends all pitched in. They were baking, making cups of tea and coffee, and helping on the day.
“We managed to raise almost a thousand pounds, which is a fantastic amount.
“The best bit was going to Cardiff Heliport with Jack to hand over the cheque. We got to chat with the clinicians, and it was lovely to spend time with them.”
Gail Windley, regional fundraising manager for Wales Air Ambulance, said: “Jack has melted our hearts. It is very moving when we get to meet our patients, especially when they are so young. We are hugely grateful to Amanda and Nick for raising funds for us during what has been an incredibly difficult year for the whole family.”
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