An interview with Isabelle

Izzy Clarke's little sister Lilia was recently diagnosed with MPS III Sanfilippo. As part of her Duke of Edinburgh’s Award, Izzy has chosen to volunteer for the MPS Society to help us raise awareness of MPS, Fabry and related rare conditions. Here, she shares her story about Lilia's diagnosis and the impact on her and her family.


Tell us a little bit about yourself and your family


I am almost 16 doing my GCSE’s. My brother, Lucas, is 17 and doing his A-levels. We live in Crewe in Cheshire. My parents work from home since Covid and we all help out to look after Lilia.


When did you find out about Lilia’s diagnosis?


I was in school on Wednesday 9th of June 2021 at around midday when I found out about Lilia’s diagnosis of MPS III Sanfilippo. She was 5 at the time so she was diagnosed quite late on. She had an MRI scan two months prior to the diagnosis and there were multiple tests and scans during that period. But we had no idea it would be something so serious.


What is Lilia like? Has she changed in any way?


Lilia has changed gradually over time but overall there is a big difference. From an early age (6 months) she started crawling and then walking at 10 months and was far ahead of the other kids her age in terms of her physical activeness.


When she was about 3 she could say many words and some phrases. One of her favourites was “Izzy pushed me” whenever anyone annoyed her which made us all chuckle.


Lilia was very thoughtful and caring. One of the many kind things she did was when I was upset she used to bring the doctors kit and put the stethoscope on to make sure I was feeling well. Or she would apologise and say “okay” even though she didn’t do anything wrong. She just wanted smiles on all our faces and she often used to say “cheese” to make us smile.

She used to love baking cakes and would put her apron on and get out the ingredients from the cupboards so we would have to do it with her. If you asked her to do something such as put something in the bin she would run as fast as she could to complete that challenge.


She was very independent and knew what she wanted to do. She loved running to my dad, carrying many books in her arms and saying “book” so she could listen to a story. And going to my mum to say “Mummy help me please” if she was struggling. She would try and get everyone out of their rooms to do “ring- a- ring a-roses” because she loved it when we were all playing together. It happened so often I even had to put my bedside table against my door because she would want to play with me at 6 am!


After she turned 5 she gradually stopped doing these things. First, she stopped speaking. We thought it was due to her starting school. However, it didn’t get better and we realised there was something wrong.


How have your family coped since the diagnosis?


The MPS Society has been a big support for our family. Steve and Hannah are always available to answer questions whenever we need them. They have also given some presentations to Lilia’s school since no one had heard of this disease!


They have also offered us workshops, counselling and sibling support. They come up with ideas to do with Lilia which she would enjoy doing such as making edible slime. They have given us a fundraising pack as we would like to raise as much awareness and donations as we can for Lilia’s condition.


We are more than grateful for all the help we have received!

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