Rare Genetic Disorder – Michelle’s Journey

Michelle McCartan Completes 180 Hours Of Treatment At The First Step Therapy Centre

Michelle McCartan commenced treatment on Monday 6th October 2008 after being selected as the lucky winner of our 26-week comprehensive therapy programme, valued at £7,695. The competition drew a huge response with over 3,700 nominations being made to the website. Michelle McCartan was a popular winner with nearly 1,700 nominations being made on her behalf which boosted her chances greatly and as luck would have it her name was drawn on a pink ticket, number 351. Michelle was nominated by her relation Ita McCartan.

Michelle McCartan who is aged four and hails from the Belfast Road outside Newry suffers from a genetic disorder called Rett’s Syndrome. Rett’s Syndrome is a rare disorder with 1 in 10,000 girls affected. Boys generally don’t survive pregnancy or die shortly after birth, as Rett’s Syndrome is a X-linked genetic disorder. Girls have two X chromosomes, one with the mutation and one without but boys only have one X chromosome, so if this is defective then they cannot survive. Michelle is one of four daughters of the McCartan’s and also shares her condition with an older sister. The family is only one of two in the UK, where siblings who are not twins have the condition. The odds of having a second affected child in the family is over a million to one.

As shown by the number of nominations received for Michelle, the family have campaigned tirelessly on Michelle’s behalf to offer the chance of potential life-changing therapy at the Centre.

Rett’s syndrome is progressive in that as the child grows, they encounter different symptoms and problems, each of which must be addressed as they arise or their impact delayed or minimised, if possible.

The initial goals after assessment for Michelle were:

To develop and maintain the respiratory muscles so that optimum breathing patterns are achieved, which will have a positive effect on the metabolism.

To develop lower limb strength and to improve walking abilities.

To develop trunk and back muscles to prevent onset of scoliosis (spinal curvature) which affects practically all Rett’s Syndrome patients.

UPDATE – Michelle Completes 180 Hours of Intensive Therapy Programme

Since the start of the programme, Michelle (unlike other children affected by Rett’s) has made remarkable progress maintaining her skills and abilities and gaining others that she never had before.

Maria & Jim, Michelle’s parents, are delighted with her progress over the last 18 months and say that “Michelle is much more alert and more aware of her surroundings and also of other people around her. Her standing, sitting and kneeling balance is much improved, as is her grip strength, her overall core strength and physical conditioning. Michelle now even gives us hugs which brings so much joy to the whole family” said Maria.

As well as the cinic-based therapy, the family has also undertaken an involved home-based programme of therapy and have seen the enormous benefits that the whole treatment has brought and so they have decided to keep Michelle on the First Step Programme so that she can keep her strength, balance and co-ordination intact for as long as possible.

First Step Therapy is built around a core programme of exercise and strength training and is specifically designed for children and adults who have various neurological disorders such as Cerebral Palsy, Autism, Parkinson’s, MS, Rare Genetic Disorders or a Global Development Delay and who require intensive regular therapy to help improve or maintain their physical and cognitive abilities.

Michelle at work on the Swiss Ball