Sophie’s Story

Sophie was a quiet baby with very little crying and seemed very floppy. She took her time over her feeds as she tired of sucking quickly. We knew that at six weeks old Sophie had a general weakness and Doctors diagnosed her with having Cerebral Palsy. There were many questions asked about what the future would be for Sophie. She would just look up with the question in her eyes “what’s wrong mummy?”

We did a lot of research into the condition and Sophie just did not fit. We begged the Doctors for more tests and in the end they gave in. All it took was a blood test to find that Sophie had a form of Muscular Dystrophy. An appointment was made for her to have a muscle biopsy.

As we wheeled Sophie in for the biopsy, we just wanted an answer. We were asked to leave as they did the procedure and we could hear Sophie crying through the door. It needed to be done twice as the Doctors struggled to get any muscle as it all seemed to be fat.

During the months of waiting for the results, Sophie was taken to the hospital with pneumonia. She had caught a simple cold, but was too weak to fight it and she didn’t have the coughing strength to clear her lungs. Oral antibiotics didn’t work and she needed an intravenous to help her. This was a very hard time and at one point we feared the worst. After five days of uncertainty, our prayers were answered as her condition improved. Two days later she was discharged, but it was some time before she was back to her bubbly self.

Sophie was 2 years old when we finally got the results of her muscle biopsy. We were given the diagnosis of Congenital Muscular Dystrophy, Merosin Negative, and were told she would never walk. Sophie had physiotherapy weekly and after a lot of hard work and tears, a miracle happened. Sophie began to walk! We were overjoyed, yet this was by no means an end to what Sophie had to go through. She had a lot of equipment–standing frames, walkers, leg splints, safety hats and seating systems that seemed so intrusive but equally needed.

The time came for Sophie to start school. We settled on a mainstream school. Sophie was brighter than most her age so why shouldn’t she have this chance? She made friends quickly, but as the other children developed physically, Sophie was left behind. She gradually became isolated, reaching out to anyone within grasp, desperate for friendship. Although Sophie had one-to-one care at school, we grew more and more concerned for her safety as the staff simply didn’t understand her condition or physical needs. Numerous incidents occurred, forcing us to rethink our schooling choice. On one occasion, Sophie was left unable to get up during a fire alarm. After trying another mainstream school with the similar results, Sophie began a split placement between her mainstream school and a specialist school. We saw an instant improvement in her learning, care and happiness. We decided to give Sophie the option of staying with her split placement or attending her new specialist school permanently. She chose her new school and has never looked back.

Sophie is now 7 years old. She is still walking with the aid of her splints but has many falls which have led to broken bones. She mostly uses her power chair. She cannot climb stairs or run, and cannot get up off the floor when she falls. Sophie is struggling a lot physically and has now developed scoliosis, which will require major surgery in the future. She is starting to ask a lot of questions, but despite all she goes through, Sophie is a bubbly little girl with an infectious energy. She is vey warm and giving. She loves Disney princesses, mermaids and fairies. She is a typical 7 year old girl whose body can not keep up with her.

We are extremely proud of Sophie and all she achieves. We love her so very deeply. But all Sophie longs for is to be (in her words) “a real girl” who can hop, jump, run and especially walk without her wobbly gait. Please support Cure cmd and help this dream come true for Sophie.
For more information on Sophie, click here:

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  • Congenital Muscular Dystrophy

    A group of diseases causing muscle weakness at birth. Several defined genetic mutations cause muscles to break down faster than they can repair or grow. A child with CMD may have various neurological or physical impairments. Some children never gain the ability to walk, while others lose the ability as they grow older. Learn more...

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