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Robert's story - MPS Awareness Week 2023

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For MPS Awareness Week this year, we are looking at chasing the signs of MPS and raising awareness of the condition. Nathan was diagnosed with MPS IIIA Sanfillipo when he was almost 8 years old. His father Rob describes the family’s frustration at not being able to get a correct diagnosis and the support they received when they finally got it.

Most of my memories of Nathan as a child bring warmth to my heart, thinking about how much fun we had, but it also makes me sad when I think about where we are now that we know about his condition. When he was a child, Nathan didn’t understand what he was doing wrong, like snatching ice cream out of another child’s hand or clearing the shelves in Woolworths and being very loud everywhere we went. We soon learned to avoid enclosed spaces. Instead, we went to beaches or the woods where Nathan could run around. He was in his element when he was free to roam.

Understanding

We couldn’t find a school that would take him because they said he was too loud, and it would be too disruptive for other children. After a lot of searching, we found a brilliant school - St Nicholas in Canterbury. Right from the start, they welcomed Nathan with open arms. Throughout his time there, the staff bent over backwards to accommodate him. It was at this time, when Nathan was almost 8 years old that he was diagnosed with MPS IIIA Sanfillipo.

Symptoms

Nathan had endless ear and throat infections during his first two years. He was constantly on antibiotics, and he never slept, which was hard especially with our other son in the house. His speech was very poor. As with so much of Nathan’s development, he would learn new skills but lose them again after a few weeks or months. We made endless visits to physiotherapists, speech and language and occupational therapists, all of which yielded no results. No one could tell us why he was the way he was.

After years of nearly weekly appointments with OTs and doctors - of being told he’d settle down and that he was slower to learn because he was our second child, Nathan was finally referred to Great Ormond Street Hospital to see a specialist. It was there that he was diagnosed with MPS IIIA Sanfillipo. The doctor told us that he would be in a wheelchair by the age of 11 and that he wouldn’t live through his teenage years. Our world fell apart.

Finding Support

It was through Nathan’s first teacher at St Nicholas that we got in touch with the MPS Society. She found out about the organisation and unbeknownst to my wife and me at the time, she went to one of the MPS Society conferences. She spoke to doctors and parents of children with MPS and came back full of optimism and suggested we get in touch with the MPS Society.

Nathan has been in residential care for almost five years. It was a very hard choice to make but in the early stages of my late wife Jan’s cancer, I knew I couldn’t look after both. I go to see Nathan as often as I can. Sometimes it’s heart-breaking wondering if he understands that his mum is gone. But whatever emotions we feel, it's so important to talk about them without feeling judged and to give positive and encouraging words to other parents and siblings starting out on this journey. We will always love our children and cherish the many adventures past, and yet to come.


Help make a difference this MPS Awareness Week! Whether you wear it blue or rattle Bob, our virtual bucket, your support will have a huge impact. Find all the information here.

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