Sophia-Rose’s fight against MPS 1 Hurler Syndrome

Hi Everyone, my name is Stacey, I am starting this Go Fund me page on behalf of Sophia’s parents Pam and Dean.

Sophia has been diagnosed with MPS 1 Hurler Syndrome, after multiple visits to the hospital fighting for a diagnosis knowing something wasn’t right. Sophia was struggling with her respiratory system, speech delay, fatigue, sensitivity to light, chronic stomach problems, stiff joints, coarse facial features, spine curvature & ongoing ear problems.

After around 6 months of hospital visits and many tests it was confirmed In October 2024 that Sophia had MPS1 Hurler Syndrome, this meant that without urgent treatment Sophia wouldn’t make it past 10 years old. This is devastating news for any parent to have to hear.

MPS is an extremely rare genetic syndrome, with only 1 in 100,000 chance of a baby having this syndrome.

The treatment to save Sophia’s life has already started. Luckily due to her parents fighting for a diagnosis this means that it has been diagnosed in time to be able to give Sophia a chance at a longer life. This condition affects all organs including the brain, central nervous system, heart, spleen and liver.

There is currently no cure for MPS 1, the most severe of the MPS family of syndromes, however with this treatment it will hopefully extend Sophia’s life significantly.

Sophia is currently undergoing enzyme treatment which will give her the enzyme she is currently missing. Unfortunately this will not pass the blood brain barrier, which is why she will then require a stem cell transplant (bone marrow).

There may also be the opportunity if she is eligible she will then be randomised which gives Sophia a 50/50 chance of been selected as part of a new ‘Gene replacement therapy trial’ which the family are praying she gets. However either way chemotherapy and the stem cell treatment will be required. If Sophia is eligible then she will be one of the first 20 children in the UK to receive this treatment as part of a trial.

These treatments will weaken Sophia’s immune system significantly, which means that Sophia will have to isolate for as long as the treatment is required (up to 6 months)

In the coming months the treatments days will be long days lasting up to 14 hours a day for up to 18 weeks which will require Sophia and her family to travel to Manchester weekly & stop over periodically where the treatment will be carried out. Unfortunately, the family will not receive any help with accommodation for the enzyme treatment, which also includes parking, food or any other expenses associated with these treatments. Also, because of the sterile environment required during the transplant for Sophia, she will need brand new clothes and toys to help keep her entertained during these long treatments.

I appreciate that times are difficult for everyone right now, but any donation you can give is appreciated. Any donations not required for the duration of the treatment will be donated to MPS charities and Manchester Childrens Hospital.

You can follow Sophia-Rose’s journey on the below link:

https://www.facebook.com/profile.php?id=61568157794892

Thank you for taking the time to read x