Gunner's story

Updated: a day ago

Gunner has recently been diagnosed with MPS I Hurler. His mum, Holly, tells MPS Society about Gunner's diagnosis.


Update 05/05/2021:

Holly has informed us that their local schools are wearing blue on 14th May 2021 in honour of International MPS Awareness Day.


Diagnosis


Gunner is 18 months old and was diagnosed with MPS I Hurler in March 2021. As a family, we had ongoing concerns regarding his health for some time. His head was large, he had a flat nose, an umbilical hernia, hearing issues and breathing problems.

We had raised these concerns several times, but due to COVID-19 were unable to get him seen. He was then admitted unwell into our local hospital and we took this opportunity to express these concerns. The consultant had seen two other cases before in two brothers. He pieced everything together and this helped him determine Gunner's possible diagnosis. It was later confirmed.


In one way we felt relieved that he had been seen and we had a reason for these areas of concern. But it was a lot to take in and we are still coming to terms with his diagnosis. We take each day and appointment as it goes.


Our family first heard about the MPS Society first through my dad who was trying to find out what help was out there for our family. Then secondly from the amazing Birmingham Children’s Hospital Metabolic Team. They told us about the great support that was available and how we could meet other families in the same situation as us which was a great comfort.


It was a lot to take in and we are still coming to terms with his diagnosis.

Treatment


Gunner is currently having weekly enzyme transfusions which he is taking in his stride. My brave daughter Daisy who is four years old, my husband and I have all been tested for possible bone marrow transplant donors, as we felt this gives Gunner the best chance moving forward. Unfortunately, none of us is a match for Gunner. We also have a wide search of the donor list and umbilical cord options.


We attend Birmingham several times a week for different appointments such as X-rays, ECG’s, echo’s etc. We have confidence that the treatment plan will enable us to enjoy Gunner and help him have the best life possible.


Long road ahead


We know we have a long road ahead with big treatments, and with the support of the MPS Society, they can help us achieve this by guiding us along the way. We look forward to meeting other families who are experiencing the same diagnosis for their child.


We can’t wait for his first day at nursery, his sister is excited to teach him football. If anything it has shown us how precious life is and how special Gunner is to us and we can’t wait to make the best memories.


His condition may mean his joints get sore from time to time. He may need the help of a wheelchair among other things. He is such a determined and happy little boy and we know nothing, not even MPS I Hurler will hold him back.


More information


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