Mum of three Angela Tierney is determined her three daughters will lead full and active lives, despite the fact that they all suffer from a limiting condition.
It took years for a diagnosis of CMT, or Charcot-Marie-Tooth in full, to be made for Angela’s middle daughter, Bobby, now seven. Then sisters Charlie, five, and Ruby, nine, were later found to have CMT too.
It was shock after shock, said Angela, 39, of Thorne.
The girls’ father hadn’t been tested but has hammer toes, high arches and wakes up with cramp in the night – all classic signs of CMT.
Angela said: “From the day Bobby was born, I knew something was wrong as she wasn’t hitting the usual milestones. We went from pillar to post with her and it took until she was five to get a diagnosis – it was hell.
“Eventually we were referred to Sheffield Children’s Hospital where we met a lovely consultant who tested her straight away and found she CMT, which he had suspected.
“During this time, Charlie was getting older and showing signs of CMT, although she presents differently to her dad and sisters. Charlie started to cry when she walked, but then she started to wake with cramps at night and I knew something was definitely wrong.
“The medical professionals don’t really want to test for CMT until patients are older, but I felt Charlie should be tested so she could start physio and get the support she needed. Again, it was confirmed she had CMT.
“More recently, Ruby our eldest daughter, was diagnosed. Ruby didn’t start walking until 15 months and she walked on the inside of her feet. Ruby started complaining of pains in her knees and then night cramps. She chose to be tested and it came back positive.
“If I think about the future too hard, it can be mind-blowing. The children and their dad all have hyper-mobility so balance problems, trips and falls are all heightened and they get fatigued.
“I plan with military precision to cater for our daughters’ CMT. People don’t understand and can be rude, remarking if I push one of the girls in a buggy. If they appear in a wheelchair, it’s different, as people know then that something is wrong.”
September is CMT Awareness Month. Find out more at www.cmt.org.uk, call 0300 323 6316 or donate at www.justgiving.com/CMT