Finding Hope: Navigating the Diagnostic Odyssey of Williams Syndrome

The Martin Family’s worries about their daughter Evie started early, but were dismissed by health professionals. It took years for these worries to be considered and to finally get to the diagnosis of Williams Syndrome.

Evie’s mother tells that while microarray testing has made it easier for Williams Syndrome detection, it is dependent on a medical referral for a genetic test. “We are still hearing of children being diagnosed up to age 6 and, because there was no test available until 1996, there are likely hundreds of adults with Williams Syndrome who are still without a diagnosis”.

Since discovering that Evie had WS, The Williams Syndrome Foundation has become their lifeline.

The diagnostic odyssey started when Evie was very young and involved much struggle: “Evie was diagnosed with Williams Syndrome just before her third birthday and by then it was a relief to find out about it. We were really struggling; Evie vomited several times every day and she pretty much cried all night unless held upright. It was exhausting. We worried that we were doing something wrong, numerous health professional had dismissed our concerns, labelling us as neurotic first-time parents.”

“At 18 months, we moved area and needed to transfer to a new physiotherapist. The GP asked if she was behind in anything else besides walking and, as she was still only babbling, he referred us to a community pediatrician. He diagnosed her with global developmental delay and said that she may catch up.”

“A year later, we were passed on to a different pediatrician who referred us for genetic testing. She thought there may be a genetic cause for Evie’s heart murmur, hypermobile joints, low tone and developmental delay. Only months later, we received the diagnosis.”

We immediately joined the Williams Syndrome Foundation, learning all we could about the syndrome, and through the Foundation, we connected with other families – our Williams Family. The Foundation has been a lifeline, providing us with so many resources, as well as events to connect with other families and experts in WS.”

The diagnosis was the key that opened the door to support.

About the Williams Syndrome Foundation

The Williams Syndrome Foundation (UK) was formed as a Registered Charity in 1980 with the aims of promoting research and funding, and providing help and support for families with affected children. The incidence of Williams Syndrome is approximately 1 in 18,000. The Foundation hears of increasing numbers of cases each year – the figure rises as awareness grows.

There are numerous benefits to becoming a member of the Foundation. Research helps current and future generations. There are Regional Contacts around the country – all are parents of children / adults with WS– who keep in touch with local families, arrange meetings, organise awareness, fundraising, social and information events.

The Foundation organises regular online and national meetings as well as local gatherings for families. The Foundation offers funding for holidays for WS adults and families every year. The Foundation acts as support, information and advisory service and keeps members in touch through publications, events and a nationwide regional network. It also keeps a register of all known WS cases and provides access to professionals to promote research to improve the lives of the WS population.  Find out more: https://williams-syndrome.org.uk/