Leeds Woman With Rare Genetic Condition Speaks Out
1 in 40 people are carriers of a rare genetic condition - which is the leading killer of children under two in the UK.
This week is the first awareness week for Spinal Muscular Astrophy (S.M.A) - which affects muscles, movement and breathing.
Marni Smyth from Leeds suffers from it.
"Type 1 is the most severe form. I have type 2 so I'm a full time electric wheelchair user. I need assistance with preyty much all aspects of my personal care - iIt's quite tough, it's not the nicest thing in the world."
Despite around 2,500 people living with it in the UK, the condition remains relatively unknown.
"Babies with SMA never pull to stand or they can't crawl, so most of the time it's just genetic testing that makes you realise you've got SMA. I was diagnosed at 18 months old, so I've been in a wheelchair since I was 3. Currently there's no cure. Charities are working hard to fund research to find a cure but at the moment the most you can do is physio to try and maintain the strength you have. I think a cure is in reach but I still think it's quite far off.
"Every person with SMA is different, for example my chest is really weak and if I get a cold it can go into a chest infection and I can get really poorly. With other people it's more their movement and their speech that's affected because the muscles in their mouth aren't strong enough to allow them to speak properly."
For more information visit the SMA Trust website.