Guest Speaker – Deb Axtell, BWS Support Network

Deb spoke to club members on 22nd July 2014. She has been a member of Oxford Spires since July 2012 and she told us about the BWS Support Network in UK and Europe that she has helped to set up.

BWS or Beckwith Wiedermann Syndrome, was discovered in the 1960s by Hans Wiedermann in Germany and James Bruce Beckwith in the USA. Deb was born at RAF Halton in 1971 and the doctor who delivered her had just read an article about BWS so recognised some of the symptoms that she displayed. Deb told us how isolating it can be growing up with BWS, with endless medical appointments and with her family not knowing if there were other children in the UK with the same illness.

BWS is a rare inherited growth disorder with lifetime complications. There are approximately 30 characteristics and most people have a few of them. Some also have other illnesses such as cancer, autism and epilepsy. Some of the children’s operations are major, for example tongue reduction operations followed by speech therapy or operations to reduce leg discrepancies where one side is longer than the other. Deb has had both of these operations, and the speech therapy. She still has a non-corrected leg discrepancy and so wears a raised shoe. She explained to us that in some areas of the UK, funding is not available to provide shoe raises, or if it is, the shoes might not be provided quick enough to cope with the speed of growth in children. Children with this condition can miss lots of school and so this adds to the isolation.

In 2006 Deb was contacted out of the blue by someone who had found her details from a previous support network. The lady asked how old Deb’s child was, and when Debs explained that she was the one with BWS, the lady was shocked. The two of them set up a facebook network and this has grown into the charity which aims to both raise awareness and raise funds. The charity has supported families with costs of shoe raises, travel for medical visits and accommodation close to hospitals when places such as Ronald McDonald Houses are not available.

Deb has made video of her presentation which includes a film about an Australian family living with BWS