Bethany’s Story

Bethany was born in 2001, a welcome sister for her big brother Ryan. Bethany didn’t take well to feeding, taking far longer than it should. One hand wasn’t in a natural position, and neither were her feet. It was thought that Bethany was a ‘bit floppy’ but this was dismissed by the on-duty Doctor. It didn’t take long to notice that Bethany wasn’t doing the normal things that babies do. 

She didn’t move much at all and there didn’t appear to be any strength in her arms or legs. Even a newborn isn’t safe to be left on a bed or table, as they can wriggle to the edge. Bethany, however, could have been left anywhere and she would have been in the same place hours later. Investigations began, through sheer persistence by her parents, but this took time. It was all guesswork really.

Eventually physiotherapy was started, which Bethany hated with a passion and would scream throughout the entire session. Quite honestly, it didn’t appear to do any good at all, except to exhaust both Bethany and her mother. No progress was being made, so an MRI scan was performed. Even after the MRI, no absolute diagnosis was made. It was eventually decided the only option was a muscle biopsy, which was carried out at Addenbrookes Hospital in Cambridge.

The result was heart breaking to say the least–Congenital Muscular Dystrophy, Merosin Negative. The cold facts were that Bethany would never stand, crawl or walk. Here was this beautiful blond-haired little girl and her life would be forever confined to a wheelchair. She wouldn’t ever run with her brother or other children, she wouldn’t dance.
There followed endless making of splints for her little feet, her hands, and in time a body brace to help lessen the curvature of her spine, common for children with this condition.

In addition, Bethany was quite small because feeding wasn’t easy. In the end, a tube was put in through her nose for her to be fed throughout the night to gain some weight. This eventually was changed to a ‘peg’ in her tummy. Whenever Bethany caught a cold it turned to a chest infection and from there to collapsed lung and pneumonia–all very frightening for her parents. Bethany has spent a lot of time hospitalized because of these infections, which in turn puts a big strain on the family as a whole.

Whenever Bethany is ill and needs antibiotics, finding a vein is a nightmare for the hospital staff and her parents, so in the end a Port-a-Cath was fitted, to get the powerful antibiotics into her quickly. As a result of numerous bouts of chest infections and pneumonia, Bethany has night ventilation via Bi-pap. She still has physiotherapy to help maintain some suppleness. Unfortunately, she has curvature of the spine and wears a body brace except when in bed, to try and defer too much damage. The future regarding her spine is uncertain at this moment. Bethany no longer attends school to avoid infections but has a home tutor, which she enjoys immensely.

Having written all this, Bethany is the brightest, happiest, most contented child on the planet. Nothing fazes Bethany. She copes with all that is thrown at her and loves life and everyone. She loves singing and she dances around in her wheelchair. She is very ‘girlie’ and loves her nails painted and everything pink.

Bethany, like so many other children with this condition, is an inspiration to many. To read more about Bethany, please visit:

This entry was posted in Our Stories. Bookmark the permalink. Both comments and trackbacks are currently closed.
  • 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...

  • Register Now!