Hi, we are the Saul’s, a loving family of four! We are looking for help to make adaptions to our home. Our wonderful son William has been diagnosed with a rare genetic disease called MPS IIIA Sanfilippo. We imagine you are thinking “I’ve never heard of this disease” well, we were exactly the same before we received a devastating and life changing phone call.

Here is our story in a nutshell……

William is our first born child and was born in 2011. We completed our family with our daughter in 2014. Over time we realised that William wasn’t meeting expected milestones and a few days before William’s 4th birthday, he was diagnosed with Autism Spectrum Disorder. William’s ability to speak began to disappear over time and his behaviour became increasingly difficult to manage.

In December 2021, we sought the help of our now paediatrician. He listened to how William had regressed over time and lost almost all of his verbal communication, how his behaviour had become challenging, especially at night. He recommended Genome Sequencing to test William’s blood to see if he had any underlying conditions.

The testing took place in January 2022, and on 4th August 2024, our world changed forever. The Genetics team at Addenbrookes called to say they had sent a letter in the post and wanted to discuss the results over the phone before we received the letter. After writing down the word Mucopolysaccharidosis (MPS), and sensing the serious tone of the consultant, I asked “is it life threatening?” To which she responded, “it is life limiting”. William had been diagnosed with a rare genetic disease called MPS IIIA Sanfilippo which has no cure or treatment, just managing symptoms. It is such a rare condition that between 2010 and 2020 only 83 babies in the UK were diagnosed with the condition.

We went to Great Ormond Street Hospital at the end of September 2024 to meet with William’s consultant and learn more about the condition. MPS IIIA Sanfilippo is a metabolic disease that mainly affects the brain and spinal cord. It is caused by a lack of an enzyme that breaks down heperan sulphate. This builds up in his brain, causing continuous physical and neurodegenerative decline. This means that William will gradually lose his physical mobility, relying on walking aids and eventually confined to a wheelchair. William’s mental capacity will also continue to decline with childhood dementia. William’s loss of speech has already been absolutely heart breaking.

William is such a loving boy and has an adorable bond with his younger sister. Watching them grow together has truly been a privilege. William loves holding hands and giving bundle hugs whenever he can. Although he is non verbal with limited understanding, he still has a wicked sense of humour and a cheeky laugh.

This is where we really need help! ……. We do not want William going into a care facility simply because our home does not meet his needs. We cannot imagine splitting up our family and not living under the same roof together. William has lived in our house for his entire life and doesn’t know anything different. Keeping with the familiarity will also help with his dementia symptoms. We need to adapt our home so that William can live with us for the rest of his life. In order to do this, we need to get a through floor lift installed, widen doors for a wheelchair, install tracking for hoists, a ramp, porch and an extension for a downstairs wet room. We are eligible for a Disabled Facilities Grant of £30k, however, this grant is nowhere near enough to accommodate William's needs. Cost is currently estimated but we have a few quotes for items.We have decided to open a crowd funding page to help start raising funds for the essential work we desperately need. We are contacting charities for potential help too.We will also we arranging fund raising activities, so watch this space!

To find out more, the MPS Society website have more detailed information about the condition.

https://mpssociety.org.uk/conditions/mps-conditions/mps-iii-sanfilippo

We would like to say thank you for taking the time to read our story, and for any donations made to help our amazing son, William. Big thank you to the MPS society, EACH, GOSH and Zest too!

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