Jacks Journey

27/12/2025

I realised we haven’t posted in Jack’s page for a while.

The last two months have been wild, but thankfully in a positive way!

Jack is doing amazing - since we started the Keto diet in June, our last emergency hospital trip was in July, which is a far cry from our fortnightly admissions over the first ten months since his diagnosis. We haven’t required any rescue medications at home since October.

Developmentally - we are still where we were since our last update. Jack can sit for brief periods but still needs someone with him as his strength can vary.

We still manage regular seizures and we have had a few breakthroughs with his Infantile Spasms which can be disheartening and raises our anxiety levels - but on the whole we have seen a marked improvement.

And some more news..

As most of you know we have spent the last two years living in a construction site. We started building an extension on our home before we even knew we were having Jack - our property had the potential and we wanted more space for our (then) three children to grow up in.

After Jack arrived and we had his diagnosis - the extra space we wanted, then became an urgent need, his equipment is getting bigger as he grows, and we had one tiny living room for 6 of us.

Jack has a huge P Pod to rest in, a seated support chair, and a standing frame.

We get 800 medicine syringes delivered each month, 120 feeding sets plus so many other bits we need to keep our boy safe and help him thrive.

We didn’t have space for even a small dining table so we all had to eat on the sofas.

As you can imagine, life became really overwhelming and my mental health plummeted - I genuinely felt like I was suffocating in a tiny space and the mum guilt of not having room to ensure Jack’s physio needs were met was such an awful feeling.

Unfortunately, due to Jack’s care needs I had to make the decision to give up work - we suddenly only had one income and the building works were at a standstill.

Even after remortgaging our home we still couldn’t finalise the house as we were limited on funds.

From the middle of December everything changed - and very fast!

Our wonderful friends and family rallied around to raise money to help towards the building works with a charity car wash. An event was also held at a local pub where more money was raised, and a wonderful small local charity purchased Jack’s P POD and surprised our older children with new bikes.

I decided on a whim to send the poster for the car wash to our local councillor, asking if he would be so kind as to share this within his community.

This is where it all completely spiralled. Within three days, with the help of a local businessman who, bless him, doesn’t wish to be named, a huge team of contractors came into our home and completely transformed it.

They completed our boys new bedrooms, which means we now have space for Jack to have his own room.

They built a beautiful new bathroom - total luxury after having only a shower room for two years - we are loving having a bath back!

They transformed our driveway, moving over 4 tonnes of whatever rubbish we have built up over the last two years, and brought tonnes of stone to drop and level off to make getting Jack to the car much safer and easier.

We have had electricians in completing everything we needed, putting in extra sockets for Jacks electrical equipments, lighting outside for safety etc.

We now have a fully functioning living/dining area which also fits Jacks seating equipment and we no longer trip over it!

We even got gifted a real Christmas tree which looks beautiful in our new room.

Christmas morning we woke up and all sat around opening presents, last year it was impossible to move with all the toys and wrapping paper, it was so different this time.

We usually have to go out for Christmas dinner - at a ridiculous cost and the added stress of getting four kids dressed and out by a certain time.

This year, we stayed home in our pyjamas and had our own home cooked Christmas dinner around our dining table.

The gentleman who arranged all of this, said he wanted us to have a lovely Christmas, but what he did has stretched far beyond that, it has genuinely changed our lives for the better.

We have been fortunate enough also to have friends and family taking the time out of their busy festive schedules to come to the house, help with cleaning, organising, building furniture and generally just supporting us and helping to get everything finalised.

The contractors who have been in our home have gifted us their time and labour out of the kindness of their hearts to ensure we have a home that is comfortable and practical, for not only Jack’s needs, but ours as a family too.

I am writing this feeling lighter, blessed and so thankful that there is such kindness within our community 💙

27/10/2025

They said he wouldn’t, but he did.

Something incredible happened today, Jack sat unaided for the first time!

What a clever boy 👏 we are always so proud of you little man 💙

15/10/2025

This one had us worried yesterday.

He was up through the night vomiting, which for any child is risky due to the risk of dehydration.

He wasn’t able to keep any of his medication down, or his milk. His milk is all he has for nutrition but it’s also vital for keeping his body in ketosis - if his ketones drop too low then his risk of life threatening seizures increases. Because he also couldn’t keep his medication down that made the risk much greater.

Yesterday was spent regularly checking his blood levels to make sure his glucose stayed stable, we slowed down his feeds so all milk was given over two hours at a time - it felt like he was constantly hooked up to his pump.

We had dioralyte on standby if he continued to bring up his milk, and his dietitian advised that if he couldn’t keep that down then it was a hospital admission.

He had more seizures and infantile spasms than normal but he absolutely bossed it, eventually managed to keep his feeds and meds down, and his glucose stayed at the correct level.

His ketones are still on the lower side but they’ll come back up eventually.

I’m thankful we have so far managed to avoid a hospital trip - it feels so strange not spending every other week on a ward, Jack is the most resilient little man and I’m so proud of him 💙

10/10/2025

Please read and share! My amazing family are climbing Pen Y Fan to help raise funds for my boys sensory room 😍😍

Raising funds to support Jack and his family through his rare and life-limiting conditio… Jodie Hopkin needs your support for Climbing Pen Y Fan for Baby Jack

26/09/2025

What a day it’s been!

Up at 5am to get prepped for a busy day of appointments.

I had to prep two feeds for Jack, pack one of them with ice so it didn’t spoil before he had it, get him up, dressed, medicated and bloods tested.

Sorted the other three kids ready for the day, managed to get myself showered and even brushed my hair 🤣

Out of the door by 7.45, quick pit stop for fuel and to collect mum.

Jack had an appointment with Orthotics at Rookwood Hospital - he’s been given some lovely shoes to give more ankle support to see if we can get him confident weight bearing on his feet.

Then we had a phone appointment at 10.30 from a support worker specialising in blind children - I did not expect to almost break down in tears during that call but hey ho.

Then straight to the Heath for Jack to have blood tests. Every three months his liver and kidney function needs to be checked as the Keto diet may pose a risk to those organs.

It was awful watching him get so upset (he does not like to share his blood) - I am so grateful to my mum for always coming with us to the hospital for support - I wouldn’t be able to do it by myself and Nick works long days so it’s difficult for him to join us.

So the stress of Jack having his bloods taken then triggered a seizure as we were leaving the hospital. He had rescue medication but was quite unresponsive after - I was concerned about giving a second dose if needed as it can affect his breathing even further, so we were about to make our way over to A&E but thankfully he woke up and was more responsive.

Before his appointments he was having a few small seizures and an episode of spasms, alongside the rescue medication this little boy is absolutely wiped out and enjoying a nap.

Mummy needs a nap too but can’t take eyes off him at the moment.

This is quite often how our days can look - I can’t always reply to messages or make arrangements to visit people - this is literally what life is like for us.

Its hard.

It’s exhausting.

It’s filled with constant stress and worry.

But we keep going, keep getting him the best care possible and keep loving him with all our hearts 💕

22/09/2025

The press have been reporting on Jack recently, helping us get our story out there.

As expected, we have had a few very unpleasant comments.

I won’t retaliate to these with emotion, or anger, as it just isn’t worth the very little energy I have. The people who think it’s okay to say awful things about my beautiful little boy, clearly are lacking in any kind of love in their lives.

Jack is surrounded by so much love, and although his life looks a little different, he is much happier and luckier than these people 💙

He may only have a year to live 💔

16/09/2025

My wonderful and amazing friend Amy has raised an incredible £170 so far for my beautiful boy.

If anyone can share or spare a few pounds we would be so grateful 🙏

Jacks specialist buggy has been incredible for him, but unfortunately the NHS dont provide a sunshade and rain cover, or basket for the chair. These items cost £300 so any help towards this would be greatly appreciated! Xx

I'm hosting a coffee morning on Wednesday 17 September to support Jack Thomas, a 1 year … Amy Williams needs your support for Baby Jack on his PPFIBP1 journey

15/09/2025

Worked out the statistics and found that my boy is one in 500 MILLION!

So rare and unique 💙💙

08/09/2025

This boy of ours 😢
We’ve had a rocky week with increased seizures and spasms. The spasms became more intense and he started “Jack-knifing” - basically it looked like he was doing sit-ups. We have been advised by the neuro team to increase his Vigabatrin from tonight.

This evening I noticed he was very sleepy, and in between an episode of spasms he was shivering. To be on the safe side I re checked his blood levels (which I have to do twice a day) and found that his ketones had gone way too high, and his glucose levels were slightly low.

Due to the keto diet, his ketones need to be kept within a normal range, if they go too high and his glucose goes too low, he is at risk of going into ketoacidosis, which can be life threatening.

I stayed as calm as I could and treated him with Polycal - a specially formulated carbohydrate mix to help bring his levels back to normal. Thankfully this worked, so after the adrenaline wore off and I was able to switch out of medical mode I had a little cry and now we are cuddling on the sofa.

His symptoms have eased and he’s having a lovely little sleep - he seems perfectly fine now. Mummy however, is not 🤣💙

07/09/2025

Exactly one year ago today, on the 7th September I took Jack to the hospital after noticing a turn in his eye. He had been quite lethargic and off his feeds all day, myself and Nick both had a feeling something wasn’t right.

After being brushed off by the A&E doctor we returned home, only to end up back there later that night - our instincts were screaming that Jack was unwell and we needed to get help for him.

In the early hours of the following morning, I found myself in the middle of situation I had only ever seen on TV.

Jack had a massive seizure.

The sounds of the crash alarms are still very clear in my head, seeing so many people rushing to his side, resuscitating our tiny 9 week old baby boy.

Jack was rushed to Intensive Care and had an array of tests, but it was a few weeks before we had an answer.

Our boy was diagnosed with a rare mutation of the PPFIBP1 gene - he is the only person in the UK with this condition and one of only 16 worldwide.

Sadly this is a life limiting disorder, so our time is precious. He has very complex needs - he is unable to sit unaided, is registered blind and tube fed. He has multiple seizures every day.

Despite all of this, he is the happiest little boy, and becoming very naughty and stubborn. He will growl at us if we don’t do what he wants, grab anything that comes near him; even if he can’t see things, he knows they are there and he wants them!

He loves cuddles and listening to music, rattling his noisy toys and getting kisses off his brothers and sister. Jack faces so many challenges but he’s such a fighter.

Our Jack - a year ago, we didn’t know if we would be able to bring you home with us, but here you are, with your beautiful blue eyes, mop of dark hair and the cheekiest grin, you light up our world - we are so proud of everything you have achieved 💙

02/09/2025

My cousin is very kindly running the Cardiff Half to raise funds for Noah’s Ark Children’s Hospital, the ones who saved my precious boys life and continue to support us as a family. We would be so grateful if you could share or donate! Xx

I am fundraising for my baby cousin Jack who is only one of 16 people with the variation of the particular gene PPFIBP1 and is the only known person in the UK. I hope to raise some awareness of the co

01/09/2025

It’s been a huge mix of emotions today!

Our eldest boy Oscar turned a whole 11 years old!

Dad had the day off work so he tookOscar and Charlie bowling and for hair cuts, while Eliana went with her friend for the day.

Jack had a review with the Opthalmology team to discuss the results of his ElectroRetinogram that he had back in May.

They basically confirmed what we suspected all along - Jacks eyes and all of the wiring is working perfectly fine, and sending signals correctly to the brain.

This means that unfortunately his brain cannot process the signals, causing him to be registered blind (severely sight impaired)

We will probably never know how much Jack can see, but we do know he responds briefly to lights, and he’s amazing at finding his own way through touch and sound.

A massive milestone has also been had - we made it through the entire month of August without an emergency hospital admission! This is huge for us, since his diagnosis in September he has had at least one admission (sometime 2 or 3) every month. I think we have the Keto diet to thank - although it hasn’t completely stopped the seizures we have noticed a reduction in frequency and intensity.

This afternoon was quite stressful - as I was in the hospital car park ready to go home Jack had a prolonged seizure and needed his rescue meds. The car park was extremely busy and there was a queue of about ten cars behind the lady who was waiting for my space. Thankfully she was very understanding and offered to help while I waited for him to stabilise enough for us to set off.

The rescue meds then caused a bowel explosion (thankfully over my friend and not me this time) followed by some Infantile Spasms and lots of agitation. He’s absolutely exhausted now but we got through it.

Then we came home to a letter about a pre op assessment for G Tube surgery - whilst this will make our lives so much easier we are really anxious about Jack going under general anaesthetic, however we know he is one tough cookie and we will get him through it!

I’m currently calming myself with a cup of tea, followed by some birthday cake later, and dreaming of tomorrow morning when I pack the kids off to school 🤣💙