Kathryn Silk

“I can see that the future for the younger generation of Fragile X is far more positive”.

 

Growing up alongside her twin sister Susan (62), and older brothers Ian (63), and Howard (74) - all affected by Fragile X Syndrome - Kathryn understands more than most the strengths and challenges individuals face on a daily basis.

 

“My family was diagnosed in 1981 when the only information available was through research papers, which I was given by the genetic researchers at the Birmingham hospital”.

 

As one of the first families formally diagnosed with Fragile X in the UK, the hospital initially took bloods from Kathryn and her siblings, and regularly kept her up to date with newly published research papers. Eight years later, following a termination, Kathryn was given information about the Fragile X Society by her genetic nurse.

 

“As so little was known of Fragile X at the time I was lucky enough to be in touch with, and even visit, Leslie Walker, the founder of the Fragile X Society”.

 

In 1985, a paper was published which showed a difference in X chromosome activity in twins, answering the long standing question of how Kathryn and Susan could be identical twins, yet only one be affected by Fragile X.

 

Although Kathryn grew up alongside three siblings affected by Fragile X, she highlights the difficulties of not knowing anything specifically about the condition. Through our publications, information and conferences she has felt empowered to seek the right support for her family. She feels our work is not just important, but vital.