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.