Shirley Jamil

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Our journey to Rome to meet families affected by Mucolipidosis and other rare diseases

We’ve just returned from Rome where we attended the 5th Glycoproteinoses International Conference held by the ISMRD.

I was asked to do a presentation on our life as a family living with Mucolipidosis 111. Sam is 15 now, and his health has deteriorated quickly over the past year. I tried to keep it positive, but sometimes it all just gets to you and brings you down. Sam still keeps smiling, singing and drumming. If he’s happy, we’re happy.

We thought it was important for us all to attend as a family this time. Shamim could speak to other fathers and share thoughts, fears and dreams for the future of our kids. It’s not just the mums who care and suffer.

It was important for younger brother Edward to get to meet other siblings who were also silent carers for their affected siblings. To be able to share possible feelings of confusion or resentment at being either a carer, or how it could have been if they too were affected.

Families travelled in from Australia, New Zealand, USA, Norway, Lithuania, Spain, Slovenia, Jordan and UK to find out what if any progress was being made on links to finding cures or ways to improve the lives of those affected.

The scientific talks were way over our heads at times, but it showed how much research was being done in the background. Progress has been moving along at a quicker pace than previously. But never quick enough for the families I suppose.

The great news for us is that research has started on the Gene therapy for ML2 which in turn will help those with ML3.

The family breakout sessions were much more comfortable and intimate with geneticist, doctors and researchers answering our many questions on how, why and importantly- when?

We spoke with many other families about their experiences. When did they get the diagnosis, what were the symptoms, what surgeries, what helps?

Shamim and myself discussed about how we were dipping in and out of people’s lives, asking personal questions, supporting other families by just talking. People who in other ways had no common day to day similarities to ourselves, apart from having a child with a rare disease and feeling isolated.

Subconsciously, you were looking at the other children and possibly comparing & thinking, they’re worse/better than ours, we recognize those symptoms, daring to dream when you see another and she/he doesn’t look that badly affected and they’re older.

The kids had a brilliant time getting to know each other at Gladiator school, clown class and the museum. Naturally, some kids were on phones a lot, but looking closer, they were translating their languages to talk to each other.

What shines out through the tears constantly welling, choked throats and biting of lips of parents trying to keep it together as they spoke about their children was the hope we all hold on to. The hope that a cure might be found soon.

We had smiling faces, heard sounds of laughter and tears, and shared hugs. Emotions that are the same across all continents, races, religion and gender.

Rare diseases don’t discriminate. They can affect anyone. But together, we will help and support each other. You can never underestimate the power of unity when all you want to do is to stop your child from suffering.