The 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, 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.
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.”
The 35-year-old continued: “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 the A&E department.
“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.”
Amanda added: “It causes drug-resistant seizures and microcephaly – a condition where a person’s head is smaller than expected. There are also other brain and heart abnormalities.
“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.”
Jack has suffered many health episodes since August 2024. Some of his seizures have been prolonged and his rescue medications don’t always work.
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.
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 is consultant-led, taking hospital-standard treatments to the patient and if required, transferring them directly to the most appropriate hospital for their illness or injury.
It is delivered via a unique third sector and public sector partnership. 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.
As a pan-Wales service, its dedicated crews, regardless of where they are based, will travel the length and breadth of the country to deliver emergency lifesaving care.
Jack’s family have vowed to raise as much as they can for Wales Air Ambulance.
Amanda said: “We are just so grateful for everything the service has done for us over the past few months. It’s important for us to give back as much as we can.”
She continued: “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 and decide if they needed to task their team.”
She added: “It amazed me how they could watch him in real-time and decide there and there.”
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/
Amanda said: “The road ambulance arrived first and helped Jack. Then the clinicians came by rapid response vehicle.
“They assessed him to see if he needed critical care. Thankfully he didn’t. That enabled him to travel by road ambulance to hospital.”
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 in aid of the Charity.
Amanda said: “We are immensely grateful to the Wales Air Ambulance team for their support in helping our little boy.
“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 was wonderful to have the opportunity to meet the Thomas family after their incredible Coffee and Cake event in aid of our lifesaving service.
“It is very moving when we get to meet our patients, especially when they are so young and have needed us on a few occasions due to serious health issues.
“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.
“Without our fundraisers, we couldn’t continue to do what we do, every pound raised makes such a huge difference and saves lives.”
