About Rett Syndrome

Goshi’s journey with Rett’s syndrome:

BABY LILLY 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. Baby Lilly 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.

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 Baby Lilly 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 – BABY LILLY Completes 180 Hours of Intensive Therapy Programme
Since the start of the programme, LILLY (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, LILLY’s parents, are delighted with her progress over the last 18 months and say that “LILLY 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. LILLY now even gives us hugs which brings so much joy to the whole family” said Maria.

If you have a child or family member who is affected by a disability and would like them to have the possibility of the same improvements as Lilly , then please Contact Goshi for a free initial consultation.