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Martha’s Story – A rare chromosome disorder

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My name is Martha and I am 5 years old.

I have a rare chromosome disorder called microdeletion 16p13.11. It is so rare that only around 50 people worldwide have so far been diagnosed with the same condition.

The condition varies from person to person but for me it means I am unable to roll, crawl, stand or walk, I have very poor fine motor skills, I have a mild hearing loss so need to wear hearing aids and I have glasses for an astigmatism. I also have severe learning difficulties and need an adult to help me with everything I do. In addition to my chromosome disorder I also have developmental dysplasia of the hip. This means the bones in my hips haven’t formed properly and I may need an operation in the future to put them right.

Despite all my challenges I always have a big smile and enjoy listening to music and exploring books.

My Mummy and Daddy have found a wonderful place called the Footsteps Centre which provides intensive physiotherapy for children like me. I have been to the centre 3 times now and everyone has noticed how much stronger and more alert I am after each visit. Each hour of therapy costs £50 and so we’re all trying to raise money to pay for my therapy for the next two years.

So please dig deep and donate now.

Support Martha


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