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Mucolipodosis awareness – international conferences from a family perspective


Shirley has often written about her experiences of taking her son, Sam who has ML, to family events and confererences. Here she shares their story of meeting other families with ML in the UK and abroad in 2019. It's a lovely look back to a time when we could all meet up before the global pandemic changed the way we all live in 2020.

In July 2019 our family attended the ISMRD conference in Atlanta US. The ISMRD is a worldwide charity who support families and instigates research for rare diseases such as Mucolipodosis, Alpha Mannosidosis, Sialodosis and Fucosidosis to name a few. Our son Sam (17) was diagnosed with Mucolipodosis III in 2009. We are supported both by the MPS Society and ISMRD.

The conference is attended by medical experts and researchers for the rare diseases and families of those living with the conditions. It's a chance to learn of new research, share experiences and make life-long friends over the three days of the conference. Families and professionals travelled in from England, Norway, Slovenia, Germany, Italy, Australia, New Zealand, Brazil and across America.

It didn't take long for everyone to become acquainted and start to share their experiences of living with a rare condition. For some families, it was the first time they'd met anyone else with the same condition. It was wonderful to meet up with other families that we'd met at previous ISMRD conferences, too. The main conditions represented by families were Mucolipodosis, Alpha Mannosidosis and Sialodosis and ages ranged from 3 to over 30.

It didn't take long for everyone to become acquainted and start to share their experiences of living with a rare condition.

The children, siblings and children of some of the professionals rehearsed for a talent show and soon formed strong friendships and couldn't be separated. The friendship and support still carries on now with the help of social media. The conference ended with an awards ceremony. The children performed their talent show and rounded it off with a group performance of 'A Million Dreams' from the Greatest Showman and 'Time of your Life' by Green Day. Both songs sum up the good fun and memories they made together.

After the conference we travelled to San Francisco to visit family. We also arranged to meet up with another family who have two children with Mucolipodosis. It was lovely to finally meet after chatting on Facebook. We were the first Mucolipodosis family they'd met. The comparisons were so similar between the children – quite comforting in many ways.

The comparisons were so similar between the children – quite comforting in many ways.

The next ISMRD conference is hopefully due to take place in Rome in 2022 so we'll hope to meet up with our friends again!

In fact, 2019 was a good year to meet up with new and old friends. As well as meeting many ML families at the ISMRD conference, we also managed to meet two new families in England and catch up with an old friend. I made contact with Glynis through an MPS Society Facebook post we both commented on. Glynis was due to bring her son, David, to Salford Royal hospital for his genetics check up so we met up at a hotel nearby. Although David was twice Sam's age at 32, Sam liked David immediately and said: "I think he understands me and what I'm going through". Both Sam and David had a similar dry sense of humour and charming cheek and dislike of putting their hands in their pockets to pay for a drink!

It appeared that Glynis and I had similar traits such as strong willed, humourous and not letting our lads mope around about their condition. David and Sam are in touch via text and Facebook as are Glynis and myself. We hope to meet up again - probably at the next hospital appointments.

The second family we met up with through the MPS Society befriending scheme. Justine wanted to connect with other ML families and share experiences with her son Freddie. After numerous texts and calls, we decided to visit Justine and her sons during half term in October. We spent the day with them getting to know each other and sharing similar experiences.

It's comforting to know that we understand what the other is going through without having to explain everything about ML. Also to offer support and share laughs.

We originally met Sarah Burgess at the ISMRD conference in St Louis in 2015. We've kept in touch since then and met up at a couple of MPS conferences. Sarah visited us on her way back from a trip in Scotland. Sarah offers another side to ML and explains and answers things from her personal point of view, and not from what a parent thinks or sees. She understands what Sam is going through and tells us in a non-assuming way that we are sometimes expecting too much from him. Sarah also shows us that independence is possible living with ML.

With our ML families in England, we're not in each other's pockets or contacting each other every week, but we know they're at the end of a phone or text message if needed.

Hope you enjoy our story

Sam, Edward, Shirley and Shamim

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