https://www.gofundme.com/f/sophiaroses-fight-against-mps-1-hurler-syndrome?qid=4998efe380afd57083a99504bb6e0108

Saving Sophia-Rose against MPS1 - Hurlers, Scunthorpe (2026)

18/10/2025

⭐️ Day +144 ⭐️

Sophia's mobility is coming on leaps and bounds since transplant. She has now learnt how to climb the stairs, before transplant we thought she'd never get to this point.

Her climbing the stairs feels like the mountain we've all climbed to get to today. We're unbelievably proud at how far shes come and what shes had to go through to get to this stage. She's not yet walking still but can now walk along the settee holding on.

Sophia currently has physiotherapy weekly to build up her muscles and will soon be starting speech and language therapy aswell.

Next month we're back in Manchester for 6 nights for the same assessments she had prior to the transplant so they can see what progression shes had since transplant with her being part of a world wide trial and hopefully no regression has happened. The week will be full of tests every day then on the last day she'll be put to sleep yet again for another bone marrow aspirate, lumbar puncture, auditory test and thankfully her central line will be removed.

We'll look forward to taking her swimming as she's not been able to go since she had put in in December last year.

14/10/2025

One year ago today our life’s changed forever. We received a phone call & was asked to attend ‘Sheffield children’s hospital’ to be told that our little girl has ‘MPS1’ & will need a life saving transplant in the coming weeks but we continue to wake up everyday and we keep going with a positive mindset. We are so proud of our girl & how far she has come 💜

10/09/2025

⭐️ Day +106 ⭐️
We travelled to Manchester yesterday evening and stopped at the Travelodge across from the hospital ready for Sophia’s clinic appointment after a 3 week break from Manchester. The community nurses have been coming weekly in the mean time which we are grateful for.

Professor Wynn was very happy with Sophia’s bloods today. Sophia however wasn’t too happy with the professionals prodding and poking her. Cried having her weight done, dressing change, flush & bloods via her line.
Chemo no bother but do not bloody weigh me 😅😅

‘Professor Wynn’ has said that he is keen on getting her central line out in the next few weeks due to the risks the line carries as she will not be needing bloods anywhere near as often. Her line is currently booked in as part of her ‘180 day appointment’ in November when she will be having numerous ‘baseline assessments’ with her being part of a trial & will also be put to sleep to have a lumbar puncture, another BMA,a hearing test & central line removal if it is not bought forward sooner.

On another positive note Sophia’s NG/tube was taken out last week as no medicines are no longer required so we was more than happy with this 🫶🙂 One less stress to worry about and one less foreign body inside her 🥰🥰
We are finally seeing light at the end of the tunnel 💜

28/08/2025

⭐️ Day +93 ⭐️

Big day 90 appointment completed ✅️
On this appointment there was a physical assessment to see if anything had changed, loads of blood tests and we mean loads, not sure how shes got any more blood left! This meant we had to stop in Manchester for 2 days this time round.

Since our last update Sophias neutrophils had dropped to around 1 but theyve now come up to 4.8 and at the moment stabilised around 4 which is great news. Weekly blood tests are still required to keep a close eye on her to look out for any changes and if she requires any transfusions.

Bone Marrow aspirate results also came back from Milan which shows that her modified gene is still within the marrow 😁. An enzyme test also confirmed that her enzyme levels are brilliant and way above normal 🥰 Prior to transplant they were '0' due to her bodies inability to create it.

Sophia definetly keeps us on our feet and whenever we think we're 1 step forward we always end 2 steps back so we're praying for more positive news in the coming weeks as always

**The swing on the picture was all properly cleaned down first in case of any bacteria. Not that we have to justify ourselves but it's these little things most parents take for granted where as these moments are massive to us as she has not been able to do anything like this for several months. We just cannot wait for her to be with all her friends again & back with her child minder ‘Vicky’ having lots of fun 🥰🥰**

09/08/2025

⭐️ Day +74 ⭐️

Since our last update we were that sick with worry that we emailed the consultants prior to the Wednesday appointment to see if they had received the enzyme result. One of them emailed us back to say they had just got the results and her enzyme level had gone up from her last test 🙂🙏

The transplanted modified gene is what creates the enzyme (protein) in her blood and more specifically within the neutrophils, with this new gene therapy trial they are aiming for 10x more enzyme to be in the body than normal.

Following this appointment she was still on the new immuno suppressant drug (Sirolimus) and steroids incase it was her body causing her neutrophils to be low.

The following week they decided to stop the extra drugs because they didnt believe there was enough evidence in Sophias case that these would help and they wanted see how Sophias body reacts, and where her blood levels drop and even out to. You can only imagine how much of an anxious time this is.

Whilst on the extra drugs along with the GCSF her Neutrophil level got to 2.28, she was then tested a week later after coming off everything and her amazing body had produced the white blood cells all by itself and the Neutrophil level was at 5.3! (Normal level 1.5 - 8) 😎 😁

However, this is only a single result and we need to see that her body continues to produce the correct levels along with the high enzymes. We are still waiting for the results from the BMA from Milan. We was told this would be a 3 week wait. This result will show us the VCN (Vector copy number). This will show how much of the transplanted gene is still inside Sophia, if this has dropped then it shows that her body is slowly rejecting it. We pray that this isnt the case 🙏,

In the meantime, we are allowed home until Wednesdays blood test where we will hopefully see great Neutrophils again.

We're overwhelmed with the amount of people rooting for Sophia, if we havent put an update for some time people are asking about her which we find unbelievable. It means so much to us. It's been the hardest journey of our lives and sometimes takes a while to process what we're told before writing about it on social media, I hope you can all understand.

The picture of Sophia is whilst enjoying a relaxing walk with her favourite ice cream back home today ❤️💜

29/07/2025

⭐️ Day +63 ⭐️

Sophia being put to sleep for her ‘BMA’ on Friday became the least of our worries. Following her procedure ‘Professor Wynn’ came in to tell us some devastating news that her immune system is attacking her white blood cells which has the enzyme that her body needs within them. This is something they have never seen happen in gene therapy before. We are heartbroken 😢💔
What’s happening with Sophia is called ‘Agranulocytosis’
This explains why Sophia’s Neutrohphils were always low and why she took longer than the norm to graft.

They’ve put her on 2 new medications to suppress her immune system. One which they had to put an emergency SOS out on Friday due to a shortage in the UK and luckily it came on Friday night from Nottingham. She’s also been on daily GCSF at the Hosptial.
Her ‘white blood count’ has since come up so we now have to hope that her new cells/protein has been saved and that she still has the transplanted gene there otherwise it means another transplant but it would be a Donor transplant & we would be removed from the trial. They are already searching for a donor in case the worse happens.

The consultant said that we should know more by the end of the week. They retested her enzyme levels yesterday & she will be having more bloods again at the Hosptial tomorrow. You can only imagine how we are feeling right now.

Thanks for all the love we have received. We appreciate every single one ❤️

22/07/2025

⭐️ Day +56 ⭐️

So we received a phone call from the research nurse yesterday to go to clinic today for Sophia’s day 60 appointment earlier than expected as this was originally planned for next week. This is a big appointment as day 30, day 60 and day 90 post transplant, they check that her enzyme levels are where they should be along with height and weight and a urine test to make sure her ‘GAGS’ are also at the right levels.

The transplant team & trial team had a big worldwide meeting yesterday morning regarding the whole gene therapy transplants and the complications seen with 3 other patients on the trial out of the 20.

One of those patients who have recently had confirmation that they have failed their transplant is however our friend’s beautiful boy Tommy. We were on this journey together and are beyond heartbroken for them 💔
I (Sophia’s mummy) have been struggling mentally to deal with this as Tommy has to go through another transplant all over again in 3 weeks time whilst they wait for their donor match from Germany to do his health assessments etc.

What they’re seeing is an immune rejection to the new transplanted gene protein in some patients, where the body is getting rid of the protein whilst it’s still in its early stages so as you can imagine we have been worried sick in case Sophia’s not taken to her cells.

So to be on the safe side with her, they’re starting her on a course of steroids which will suppress the immune system so if it is trying to reject the new transplanted cells then it will hopefully halt that.

This friday they’re also going to put our girl under general anaesthetic all over again and do a ‘bone marrow aspirate’ on her to look at the newly transplanted cells and see how many there are compared to what they transplanted. If they’re still the same then that shows the body isnt starting to reject them.

They dont think there is however anything going on with Sophia but they want to take a deeper look into the bone marrow on friday to be cautious to see if there is any signs of rejection happening with Sophia’s new transplanted cells.
If there is anything going on they can hopefully give her medication to make sure the body doesn't reject them.

Sophia has started the steroid medication today for a weeks treatment and as mentioned she will be having a ‘BMA’ on Friday under General Anaesthetic so another stay at Manchester Hosptial this Thursday evening for Sophia and Mummy 😢

We are then at Clinic next Wednesday for review and if Sophia’s tests are ok then we should hopefully be discharged as we just want to go home. We have been here with Sophia for 10.5 weeks now minus the one weekend that we were allowed home.

04/07/2025

⭐️ Day +38 ⭐️

Today has been an emotional day as we finally got to ring the bell after over 6 weeks on the ‘Stem cell ward 79’ 😭
Sophia was however a little overwhelmed by the crowd but such a lovely moment to celebrate our brave little girl making it this far 🔔❤️🫶
Nothing ever prepares any parent for a journey like this. What a journey it has been. Each day has been a complete blur & we truly want to thank each and every one of you who have checked in on us or supported us in anyway. We also cannot thank Sophia’s consultants, The trial team and Sophia’s Nurses enough on ‘BMT’ for everything they have done for us.

Sophia’s Neutrophils are now at 0.71 as of today so we are praying they now continue to rise.

We will be staying in Manchester over the next few weeks for regular monitoring of her bloods or if we need to go to the hospital for any other reason. Although Sophia’s journey doesn’t end here as she will always have ‘Hurler syndrome’ as this is a Treatement, not a cure. There are also still many more follow up appointments over the next year between ‘Manchester’ & ‘Sheffield’ Children’s Hospital. She also needs around 15 medications a day through her tube which Mummy and Daddy have now had their NG-tube training following discharge

We will be making a donation to the ‘Stem cell Transplant ward’ as promised once we figure out how much more money we will need for Sophia’s follow up appointments.

Saving Sophia-Rose against MPS1 - Hurlers

18/10/2025

14/10/2025

10/09/2025

28/08/2025

09/08/2025

29/07/2025

22/07/2025

04/07/2025

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