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Today is World Sanfilippo Awareness Day

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MPS III, known as Sanfilippo disease, is one of the mucopolysaccharide storage diseases. It was first identified by Dr Sanfilippo in 1963 and includes 4 different types A, B, C and D. Each type is missing, or has lower levels, of a specific enzyme. From 2010 to 2020, 83 babies were born with MPS III in the UK.

To raise awareness, we are sharing Kelly's story whose daughter Penny was diagnosed with MPS III after her fourth birthday along with a new resource for families and people affected by the condition.

Read Kelly's story

My daughter Penny was diagnosed with MPS III Sanfilippo just after her fourth birthday following three years of tests and appointments.

When she was twelve months old, we started to notice delays in her walking and talking. She also had problems with her nose and suffered from constant sinus and ear infections. Penny was diagnosed with glue ear and partial hearing loss at 2 1/2 years old. As she got older, her delays in development were becoming more obvious. She was extremely hyperactive and struggled to sleep. We were eventually referred for genetic testing and were told Penny had MPS III A.

Following the diagnosis, Penny was referred to the metabolic team at Birmingham Children’s Hospital where she now has regular visits with the team. This diagnosis was a huge shock to us and we were given very little information from the local doctor who delivered this news to us.

The MPS Society was our first contact for support and they have been supporting us since day one.

We also have regular respite at a local hospice which allows us to rest, recharge and spend time with Penny’s older brother Harry.

Since the diagnosis, Penny has lost all of the speech that she gained during her first four years. She is no longer as hyperactive as she used to be, and prefers to sit and cuddle. She is still able to walk and loves to dance and jump! However, she does get tired quicker, so we use her wheelchair more now. One thing that hasn’t changed is her appetite, she loves food and can eat a lot! Although we do have to regulate this, as she will easily choke by trying to cram too much food in her mouth.

Penny's personality has stayed the same, she is very cheeky and loves singing.

She is a huge Disney fan, and recently we have been on a family holiday to Disney World! This was such an amazing experience for the whole family and we made some amazing memories.

As a family, we have all decided to make lots of happy memories and enjoy as much as we can with Penny.

It’s not easy at times, especially the first few years after diagnosis. It’s hard to accept that you are going to watch your child deteriorate and it has affected us all.

We have all accessed counselling sessions and accepted as much support as we can. I think this has helped us get to where we are now, along with meeting and chatting to other MPS families.

MPS III Sanfilippo information for individuals, parents and families

We would love to hear your feedback on our new MPS III information resource before we go to print. Click the button to view the booklet and please feel free to get in touch via email communications@mpssociety.org.uk with any suggestions or questions you may have.

We know that being diagnosed with a rare disease is life-changing and you can struggle to come to terms with it. Therefore, we have created these disease booklets for you to learn more about the conditions and how we can help you to live well with them.

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