Walkden Mother’s relief after son diagnosed with rare disorder

A Walkden Mother has described her relief after her son was diagnosed with a rare disorder.

The KBG Syndrome Foundation describes KBG as: “a rare genetic disorder caused by a mutation on the ANKRD11 gene. It is associated with a spectrum of challenges, including developmental delays, cognitive disabilities, behavioural disorders, autism, seizures, hearing loss, skeletal anomalies, heart complications and gastrointestinal problems.”

Elise Filtcroft said: “KBG affects my son by putting a strain on both his mental and physical states, due to this he needs help with everything, every day. He is unable to do anything by himself and needs constant attention.”

There is varying signs and symptoms of KBG however Elise’s son struggles with: “Not being able to get his feelings and emotions across and sometimes gets angry when he is unable to do so.”

“Other than that, he has never known any difference to his life, so he doesn’t really struggle, he just gets on with it as normal.”

She went on to give advice to any other parents who have or will face the same struggles: “You can’t push your child to be where you want them to be, they have to go at their own pace.”

“Putting pressure on your child to be so called normal will only put further stress on you and your child. You will also end up focusing on the things they can’t do rather than seeing everything they’re already achieving.”

With that in mind, her biggest piece of advice: “As soon as you start looking at the small accomplishments, they become huge victories!”

For further support on KBG for family members, individuals and clinicians there is a closed Facebook group managed by the KBG syndrome foundation.  The Foundation are a non-profit organisation “with international partnerships, dedicated to providing support, assisting in research programs and advocating to raise awareness about KBG Syndrome.”

When asked what the difference in her lifestyle since the KBG diagnosis she chuckled: “There was no difference in lifestyle. With me only having the one child, I’ve never known anything different. So, to me the only lifestyle change is that I’m a mother.”

For more information, visit the KGB website.