Saving Sophia-Rose against MPS1 - Hurlers

Saving Sophia-Rose against MPS1 - Hurlers Diagnosed at 14 months 💜
Transplanted via Gene Therapy at 21 months in May 2025 as part of a worldwide trial 💉
UK Based 🇬🇧
1 in 100,000

On Friday we had to travel all the way to Manchester hospital and back for an ‘ENT’ appointment. This is obviously a lon...
13/09/2026

On Friday we had to travel all the way to Manchester hospital and back for an ‘ENT’ appointment. This is obviously a long day for us but we was advised it’s best to stay under Manchester for ‘ENT’ in case Sophia needs any surgeries as Manchester is our nearest hospital that specialise in MPS 💜 After being seen we are so glad we went to Manchester for her check up as after being assessed by Sophia’s amazing consultant, she said based on her ear examination she has a different type of structure to her ear drum compared to other children 👂🥺 She also advises she gets Grommets and that she has her adenoids removed at the same time. She has had glue ear since birth so this will immediately relieve conductive hearing loss, help speech & language development and general awareness. This type of procedure comes with higher risks for children with MPS compared to a child without MPS

The consultant cannot understand why she wasn’t seen much sooner as children with MPS should be seen at least annually for ENT 🤷🏻‍♀️🤦🏻‍♀️
After the procedure has been done she doesn’t know if Sophia will still need her hearing aids which she has now which she has started to refuse to wear 😐🫣 The consultant told us it will be a 6-8 month wait so we know that next year she will need to go under general anaesthetic at least two more times as she needs another ‘GA’ when we’re 2 years post transplant in May 2027 as part of her trial assessments 🥺 This will bring it to 10 general anaesthetics for our amazing little girl 🫶❤️

Sophia was also born with a tongue tie which we thought was a massive problem at the time, little did we know what was to come🥺
Anyway the Doctor is going to have a better look at it whilst under ‘GA’ and assess if she should remove the tongue tie. We had it checked at Sheffield hospital when she was a baby but they wouldn’t remove it 🤦🏻‍♀️🤷🏻‍♀️
We are noticing a slight lisp when she’s talking so hopefully they will remove it 🤞🏽

Sophia’s speech is still significantly behind, however since having her hearing aids fitted we are noticing massive changes. She is currently trying to say new words every day 🙂

We are beyond proud of her 🫶Despite what she has been through she really is such a happy girl and we are so lucky that she is ours 🥰

As Sophia was such a brave girl as she let the specialist do all her examinations on her, we rewarded her with her fave ‘McDonald’s’ 🍟🥰

We’ve had an amazing weekend in Chessington at the MPS event at Chessington World of adventures & visiting family 🐐🎢🎠It ...
10/08/2026

We’ve had an amazing weekend in Chessington at the MPS event at Chessington World of adventures & visiting family 🐐🎢🎠

It was so lovely but also emotional to finally meet some other ‘MPS families’ who we have been in contact with over the last couple of years on social media.

We felt there was almost an instant connection with some of the families as we already know what their hearts are feeling 💜🥹

Forever grateful for our strong MPS community 🫶

We cannot wait to see everyone again next year!

Thank you MPS Society UK, here for those with rare diseases

Just over 365 days ago we was stressing that the transplant was going to fail as her numbers weren't coming up, now look...
01/08/2026

Just over 365 days ago we was stressing that the transplant was going to fail as her numbers weren't coming up, now look at her enjoying summer!

Yes she has lots of underlying issues but this is a girl that compared to where she was is completely excelling, makes us laugh constantly and amazes us every day

She makes us so proud ❤️

31/05/2026

+365 Days ☆

This week marked 1 year since transplant and we was back in Manchester for the week. The week entailed lots of different tests, the same which were done in March 2025 prior to transplant, this will give a good indication of the difference in Sophias body from then to now.

Throughout the week there was:

* Ophthalmology clinic which gauges Sophias eyesight. Something she doesnt particularly like due to eyedrops having to go in to dilate the pupils. Different eye specialists look at her and come up with a summary of her eyesight. They are quite happy with them and no need for glasses at the minute. She does have slight corneal clouding but it hasnt got worse since last year
* Height, weight, head circumference, urine test, heel prick blood test done by the nurses on the ward
* Echo cardiogram to see her heart. The specialist said her heart looks the same as last year and hasn't worsened, still with slightly thickened walls but all valves working as they should be
* Ultrasound of the abdomen to look at liver, spleen etc…
* Xray of the spine. Sophia has scoliosis and kyphosis of the spine and it does look slightly worse than it did a year ago but the consultant did state this could be due to her weight bearing now compared to before. The real indication if it is worsening will be the next few xrays of the spine. The hope is that as she grows stronger, the muscles in the back will straighten the spine up
* Psychology. This is to gauge where she is at developmentally. She is average for her age range which is brilliant to hear but behind on speech and language (which we knew anyway). She quite likes this test as its playing with different puzzles and being asked to do things to see if she understands and can problem solve.
* Audiology test. Sophia is undergoing alot of audiology back home and the Manchester team got to the same results as they did in Scunthorpe. Mild to moderate hearing loss, being caused by glue ear but theyre yet to determine if there is something else aswell. This is the reason why she wears hearing aids now
* Physiotherapy. This was a long test and again to see what things Sophia can do like, walking, walking backwards, running, going up steps, hand movements, feet movements, throwing a ball and amongst many of other things. There was also joint range of movements which she hated due to the physios man handling her joints to see how they can move
* We also met the main metabolic consultant team.. We will be seeing them every 6 months along side the trial team. Once the trial has finished she'll be solely under that team.

Friday then came, the day that was hanging over us all the week…. The general anaesthetic. This was her 8th one, at 2 years old is just a crazy statistic. Nothing quite prepares you as a parent to be holding your little one in your arms as they go all floppy. This time seemed more horrific as she hasnt now got a CVC line in so it had to be done via a mask. Sophia was so brave but so scared. As the mask was on her face, not kicking or screaming, just a little girl who was scared, looking around at all the Dr's / surgery staff and nurses with tears running down her face and then lights out for her after around 2 minutes which felt like 2 hours 😭💔

This was her longest general anaesthetic which last around 4.5 hours. They had lots to cram into that time 6 tests in total,
* MRI of the brain
* Loads of bloods for research and key markers of her body
* Lumbar puncture
* Bone marrow aspirate
* Carpal tunnel assessment
* ABR test

Sophia struggled when she came round, she couldn't keep any juice down, constantly vomiting. The nurses got worried as time was getting on and she had been made to fast since the night before. Blood sugar finger prick test was done to see her levels and an anti sickness medicine was given. Blood sugars were just ok and thankfully anti sickness worked and she started to keep things down but it was looking like we was going to be getting admitted for the night. Luckily we was discharged at half 6.

Its been a long week but Sophias been unbelievably brave and strong. Not many tears through the week and a crazy amount of stickers given to her by the hospital staff. She now has an obsession with stickers 🤣.

The staff at the Royal Manchester Children Hospital are so good and we are thankful for every single one of them. They have given Sophia another chance of life and we are so proud of her with how she is doing and smashing the challenges infront of her 💪🏼❤️

Today is ‘International MPS Awareness Day!’Understanding MPS I 💜​Mucopolysaccharidosis Type I (MPS I) is a rare, progres...
15/05/2026

Today is ‘International MPS Awareness Day!’

Understanding MPS I 💜
​Mucopolysaccharidosis Type I (MPS I) is a rare, progressive genetic disorder caused by the body’s inability to produce a specific enzyme (alpha-L-iduronidase). Without this enzyme, long-chain sugar molecules called GAGs build up in the body’s cells.
​Over time, this accumulation causes permanent, progressive damage to the heart, bones, joints, respiratory system, and central nervous system. It can affect a child’s physical growth, cognitive development, and overall mobility, making early intervention and advanced treatments absolutely vital.
Without a transplant our girl wouldn’t live past around 7 years old.
​
Celebrating MPS Awareness Day💜
Today is International MPS Awareness Day.
​We wear purple today to shine a light on the strength of the MPS community and to share a story that encompasses both the incredible hope of the future and the profound weight of the path we walk.
​
Celebrating Sophia 💜
​Sophia is a living testament to the power of medical advancement. Having been part of the pioneering gene therapy bone marrow trials in Manchester, her journey represents a breakthrough for families everywhere. Her resilience is a reminder of why we fight for early diagnosis and access to life-changing treatments. She is our proof that "untreatable" is no longer the final word. Sophia amazes us everyday despite everything she has been through she is always smiling. Sophia’s future will likely be full of curve balls but we continue to fight this cruel disease together.

We took a major leap in enrolling Sophia in a clinical trial making her one of the first in the world to receive gene therapy for a child with MPS1. It’s unlikely any damage that’s already happened to Sophia can be reversed.

The diagnosis of Sophia having ‘MPS1’ was absolutely heartbreaking learning that there is no guarantee Sophia will live past 30. The specialists are however hopeful that the gene therapy will extend her life span and should hopefully prevent less skeletal problems for her in the future.
​
Honoring Elsie 🪽💜
​As we celebrate these victories, we also hold space for the private heartbreaks that often go unspoken. We remember Elsie, who was due to be with us on May 9th 2026.

​MPS Awareness Day is about acknowledging the agonizing realities families face. For many, a diagnosis comes with the most difficult decisions made out of a deep sense of love and a desire to prevent suffering.

​We honor Elsie’s memory and the permanent place she holds in our hearts.
​We stand with every parent who has had to make the heartbreaking choice to terminate a pregnancy due to this condition.

​Compassion is our priority, ensuring no one feels alone in their grief or their journey.
​Whether we are cheering for the breakthroughs that help children like Sophia thrive, or lighting a candle for Elsie and those who could not stay, we stand together in the hope for a cure.

TFMR is still heavily stigmatised in society. By helping to spread awareness we can end the silence and begin to open up a dialogue.

TFMR is baby loss. TFMR needs to be recognised and supported within the baby loss community and the wider community.

I carried Elsie for every second of her life and I will love her for every second of mine.

​

Address

Scunthorpe

Website

Alerts

Be the first to know and let us send you an email when Saving Sophia-Rose against MPS1 - Hurlers posts news and promotions. Your email address will not be used for any other purpose, and you can unsubscribe at any time.

Shortcuts

Share

Category