Jacks Journey

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 🤣💙

19/08/2025

Jack is almost 14 months old, and due his vision impairment, developmental delay and exhaustion from meds and seizures, he’s never been able to properly play with toys.

He had a few seizures this afternoon so slept a lot but now he seems to have found some energy and he spent a good five minutes messing around with this sensory book from Nanny and Grandad.

We take so much for granted when we have healthy, neurotypical children, that I never thought I would ever feel this way over something that, to anyone else, may feel very minor.

But for us it’s another achievement, another milestone, another celebration.

I’m not ashamed to admit that I cried 🤣

18/08/2025

We are now three months into the keto diet.

Since Jack’s diagnosis of Infantile Spasms in January, our boy lost his sparkle. The aggressive treatment and countless daily seizures were too much for him. It was getting harder and harder to get him to smile and it broke our hearts watching him become a different baby.

We have noticed over the last few days that he’s smiling a lot more, usually it was only tickles that would get him giggling but we are now back to just chatting or singing and he gives the most beautiful smiles again!

This is such a huge milestone for us, and today we have been completely free of seizures and spasms - what an amazing achievement!

I am so proud of our little warrior, he hasn’t had the easiest start to life but he is smashing it. Myself and Nick are learning Jack’s little ways every day, and falling into the routine of a different kind of ‘normal’ - it certainly is a rollercoaster, and I’m not naive to the fact that things can change in minutes.

But for now, I am celebrating, because it feels like our lives are constantly full of stress, worry and exhaustion - I want to embrace those small wins while they are here 💙