ROCKBOURNE Fairs, which last year raised £37,000 for charity, has chosen to support research into a rare congenital condition - after a Martin grandmother told organisers how it had affected two of her grandsons.
Sue Kelly (67) said money was desperately needed to fund research into arresting the development of congenital myotonic dystrophy.
She is also fighting to promote awareness of the rare disorder, which is inherited.
Her son Jeremy's children, Jack (seven) and Ben (five), were born with the condition, but it was not immediately diagnosed because so little is known about it that many GPs and other medical practitioners are unfamiliar with its collective symptoms.
It occurs when a parent, usually the mother, who already has myotonic dystrophy (but so mildly that she is often unaware of it), passes it on to her child in more severe form.
In Mrs Kelly's grandsons' case, daughter-in-law Erica carries the gene but did not know until after Jack and Ben were diagnosed and both parents were tested to see how the condition had been passed on.
Mrs Kelly said: "There is no treatment.
"They have speech therapy, physiotherapy and occupational therapy - anything to stimulate the muscles, but there is nothing to arrest the condition and we need money for research.
"Our two little boys will go until their teens, then the myotonia will kick in and they will slowly lose control of their muscles."
Myotonic dystrophy is a progressive muscle wasting disease accompanied by myotonia, which causes prolonged muscle contractions.
Babies born with it often have breathing problems at delivery and are "floppy" in the early months because of poor muscle tone, as well as experiencing swallowing difficulties, which can lead to poor feeding.
Poor concentration, impaired vision, club feet, and poor bowel control are all symptomatic of the condition.
Mrs Kelly is convinced that earlier diagnosis could help parents take steps to ensure children were not born with the defective gene.
She said: "It is important to get the message across that, if you have a floppy baby who needed resuscitation at birth, who has muscle weakness, in-turning feet and problems with speech and eyes, the mother and father should be screened for myotonic dystrophy, to see if one or other has the defective gene."
Nottingham University scientists are researching a means to arrest the progress of the condition.
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