My wife's friend of 40yrs has a little girl called Carmela who is a very happy, bright and funny little 5 year old girl with a zest for life. However, she tackles daily obstacles because of her rare disease.

Carmela's condition is called LMNA-CMD which is a progressive muscle wasting disease that weakens every muscle in the body including the heart. Consequently children with the condition can be lost suddenly due to heart related problems.

LMNA-CMD, is caused by a 'mis-spelling' in her genes. It is a spontaneous mis-spelling meaning that neither of us are 'carriers'.

LMNA-CMD is incredibly rare with roughly 50 affected individuals in the UK, which is less than 1 in every million.

Approximately 50% of children develop Dilated Cardiomyopathy (disease of the heart muscle), 100% of children develop Conduction System Disease (Disease of the electrical system of the heart).

Many years ago affected children would typically die before age 10 from respiratory & heart complications, but modern intervention has seen an increase in life expectancy. Carmela now has a 60-70% chance of living to age 16. If lucky, she could make it to her 20's.

Since Carmela's diagnosis summer 2017, her arms and legs have lost more muscle strength, resulting her falling more, struggling more to get off the floor and inability to raise both arms above her head.

Carmela's rare form of Muscular Dystrophy called LMNA Congenital Muscular Dystrophy means her skeletal, heart and lungs weaken as she grows, shortening her life. With her type of MD, her heart is at risk of a sudden heart attack with no warning. She has daily pain in some joints that are tight due to lack of muscle but she doesn't complain and just gets on with her therapy exercises. With this in mind, it doesn't stop her being a kid. Carmela has weak neck muscles causing her to have a floppy head so she wears a safety helmet as her head hits the floor like a brick when she falls, which she can fall up to 10x daily on a good day because of her weak lower body. She also wears a lycra suit under her daily clothes to help give her stability and reduce deformaties in her spine as she grows. She also wears knee straps as her knees are bendy and weak and collapse easily. Carmela never complains about her discomforts and pain she gets, she just gets on with it and puts us to shame. She only attends school half days because she gets so exhausted causing her to go very pale and blue lipped some days.

Help me raise vital funds to help with research in to a treatment or a cure for these children to have the life they deserve.