Just4Children are fundraising to help support Carmela with vital therapy equipment to keep her as healthy, strong and independent as possible. The funds will also help provide specialist physiotherapy and massage therapy which are essential for maintaining her mobility, wellbeing and quality of life.
Carmela, 12 years old, lives with a progressive muscle-wasting condition called LMNA Congenital Muscular Dystrophy. Over time this condition weakens the muscles she relies on for movement and breathing, and it also carries a high risk of cardiac arrest. Not long ago we learned just how real that risk was when doctors discovered she was only a few heartbeats away from a cardiac arrest while she was asleep.
Thankfully, Carmela now has an implanted defibrillator which constantly watches over her heart and can act instantly if it ever needs to. It’s an incredible little device that quite literally helps keep our girl safe.
Unfortunately, Carmela’s rare gene mutation has also led to three additional health conditions, meaning she has even more to face each day.
She now lives with insulin-resistance diabetes, which means taking multiple medications daily. She also has Lipodystrophy, a condition where her body is unable to properly store the fats and sugars we eat. Instead, they can build up around her organs and circulate in her blood, putting her at high risk of organ damage.
As a result, Carmela currently has liver disease and very high fat levels in her blood. To try and manage this, she follows a very strict diet and works incredibly hard to stay as active as she can to help break down those fats.
But exercising isn’t easy when you have muscular dystrophy. With limited energy and weakening muscles, even simple activities can be exhausting. Yet Carmela continues to push herself and face every challenge with determination.
