In April this year our world was turned upside down when they diagnosed our daughter Louisa, 13 with a life limiting rare progressive neuro muscular condition called Friedrich's Ataxia. It is where the nerves don't receive signals from the brain. It causes poor balance and coordination, loss of use of legs resulting in being fulltime wheelchair user, most commonly by late teens. Loss of fine motor skills, dysarythria (inability to speak properly), spinal curves and most seriously hypertrophic cardiomyopathy. Then in May this year they diagnosed Max, 10 with the same debilitating condition which was shortly followed by the diagnosis of hypertrophic cardiomyopathy, meaning his heart is too big and doesn't best properly. Harry is next to be tested and he currently has sensory processing disorder, Hypermobility Syndrome and hypotonia meaning his body muscles don't work properly resulting in them working too hard causing pain and fatigue. Both Louisa and Max have reduced feeling in their feet and lower legs already. This is genetic, Chris and I both carry it and had no idea. The chance of one of our children having it they say was 1:4, 2 possibly 3 of our children, not great odds!!! Approx 1 to 2 in 100 thousand people have Friedrich's.
There is no cure only management to keep them out of a wheelchair and on their feet for longer. The Therapy's they need are either not available on the NHS or not specialised enough. Assesments alone cost in the £hundreds. Please help us to make a start xxx thank you