Marshall-Smith Syndrome mini documentary

Marshall-Smith Syndrome mini documentary


The pregnancy was absolutely fine. We found at
about twenty weeks that there were some issues. In the twenty week scan, they said: ‘worst
case scenario, the baby may have autism.’ We kept thinking silly things like: even if our son slightly develops
mentally delayed, I’m sure he’ll catch up. You know, it’s nothing. We weren’t particularly worried at all. Half an hour after he was born, we kind of
pushed and said that we don’t think he’s breathing right. And they said: ‘no, no, he’s fine.’ And we
gave him back and we said: ‘no, he’s not fine.’ We felt that like it was gonna be
quite touch and go whether he’d make it. And they were saying things like: ‘enjoy your
child’, ‘let’s spend as much time as you can.’ you’d say to someone if you thought it might go wrong. We were pretty concerned at that point. He looked obviously different. Babies look different when they come out
anyway, but Alfie looked a lot more different than that. It was quite obvious that he had a syndrome. Alfie is awake before you today! It was actually Sean who discovered
Marshall-Smith. We were in the hospital. I was googling the symptoms
and then I think we found a picture. It was almost like someone
had put a picture of Alfie on the internet MSS is Marshall-Smith Syndrome, which is a
gene defect, which affects the – NFIX? – NFIX gene. Main aim of the research is first to
better understand the role of NFIX in the body. The cells from Marshall-Smith syndrome
patients behave differently from normal cells. Marshall-Smith syndrome is a very rare genetic
disorder that affects multiple organs in the body, mainly the face, the brain, bones,
as well as causing breathing problems. And for Alfie his feeding as well. He doesn’t feed orally and eventually they gave
him his tracheostomy, which changed his life, didn’t it. Saved him –
That’s what we spend most of our time doing,
is clearing it, changing it, making sure he’s fine. He does need 24/7 observation – yeah. You can’t go and have a shower and
leave him downstair or go and cook dinner. You have to be kind of with
him all the time, which is tiring. and his sister finds that tiring as well. The children are very dependent on
their parents, that’s never gonna change really. So we’re hoping that by identifying
some potential treatments at least improve their live expectancy as well as their quality
of life of both patients and family will be improved. He’s really developed, hasn’t he? Yeah, he’s enjoying life,
he’s from a baby who was elusive to one
who just wants to interact and play with everything. He smiles to everybody. He’s a nice content boy happy with life. Yes, he’s absolute joy. Hi! Hi! I’m a carer for Alfie. I feel particularly with
looking after him 24 hours a week, he’s almost closer than a nephew and
it’s not just the time that I spend looking after him, I also see my sister probably three or four times a week, because we only live 10 minutes away from each other, so it’s really enjoyable or
more rewarding as well, but hard work. So initially the Marshall-Smith foundation
was obviously set up to help with fund raising, to help with identifying
treatments and tests to help our family, but one of the best things I think they did
as a side, was to create this community for us, But the most amazing part was
the first family event in the Netherlands. And suddenly I’m looking around and
there are Matthew lookalikes all over the place. I could not believe that
we were not alone, Matthew was not alone! I hadn’t realized that I personally was
walking around with this loneliness of a grief, but walking to that family event,
it was the most positive thing after 14 years. Matthew lived, he really lived!
He didn’t just exist between hospital appointments. And eventually Matthew made it to double figures. You know, after being told that
he will only live to be three years old. He completely ignored the prognosis
and made it to 18. Matthew died a man. We just hope that he can thrive in life and enjoy his life. Yes, I hope he gets his trachea taken out
at some point soon, so that he can start using his voice and start smelling and then have them,
you know, that sort of sensory interaction, because he’s lacking that at the
moment and then carries on being happy. And I’m just hoping that with further research
more children with Marshall-Smith Syndrome will also be able to have the quality of life Matthew had. And in their case also hopefully,
and I know they will, live much longer. And that’s all we can hope for for Alfie.

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