At our speaker meeting this week John Isles talks to Deborah Holland-Axell, a Rotarian from RC Oxford Spires about her extraordinary life living with BWS.
John: Deborah welcome to our Speaker slot and perhaps I can start by asking you to tell us a little about yourself.
Deborah: Hi John thank you for asking me to be your speaker for today and giving me the opportunity to raise the much needed awareness of Beckwith-Wiedemann Syndrome. I also bring greetings from my club president Richard Fuller (Oxford Spires Rotary Club)
I am one of the oldest in the UK with B.W.S and Co-founder of the BWS Support Network UK & Europe along with a parent of a child with BWS Kirsty Carmichael. Kirsty runs the charity side of things I just raise awareness and fundraise when I can. The syndrome has stopped me doing any more than that, I love talking about it though.
John: I know you have recently set up a new Charity for Beckwith
Wiedemann Syndrome. Perhaps you could tell us what this is all about?
Deborah: When I was born in May 1971 my life was saved because the doctor delivering me had just read an article about the syndrome on that day. My parents were told to make the most of the time they had with me and to prepare for the worst. (B.W.S was discovered in the 1960s by Dr Hans Wiedemann a geneticist in Germany and Dr Bruce Beckwith a paediatric pathologist in the USA.) As the syndrome was so rare I was literally one in a million (it is now approximately 1:14,500) No one around me knew if there was anyone else like me in the UK or for that matter what would happen. This made it isolating growing up with no one my age to talk to about it and the endless medical appointments we went through.
At 15 I made a vow that I would not let this happen to anyone else with the syndrome and that someday somehow there would be a place of support for families and B.W.S people from the cradle to the grave, which in some cases is sadly far too soon.
In 2006 I got a phone call out of the blue from a parent asking me how old my child with B.W.S was? She had been given my name from an earlier self-help group for parents of BWS children. When I told Kirsty I was the child with BWS I could hear the surprise down the phone line from Kent. There was shocked silence – she hadn’t expected that response!
From that point we decided to form the Network and have not looked back.
We now have a new charity supporting adults, children & parents living with B.W.S and are starting to raise funds for much needed equipment and most importantly raising awareness and hopefully some understanding of the syndrome. Unfortunately there is a lot of contradicting information about the Syndrome. We hope new research will be done in the future on BWS from birth to adulthood as more people are asking for help after being diagnosed late in life. They generally get dropped from the medical system as it’s classed as paediatric.
John: I assume this is a birth defect and apart from a physical difference what effect does it have on children as they are growing up in terms of being able to enjoy school and sports?
Deborah: Beckwith-Wiedemann Syndrome is a genetically inherited overgrowth syndrome though we have some families that have been given a clinical diagnosis. Yes there are birth defects however the complications can go on into childhood and even adulthood in some like myself. The children themselves are very bright but the majority have to contend with added medical problems on top of the syndrome as well for example along with autism (BWS is on the autistic spectrum though a minority of children DON’T have this) they could have epilepsy, cerebral palsy. The list goes on but it depends on the child as in each child the syndrome can manifest itself in different ways from mild to severe dependent which gene strand the child has.
This means that for school and sports it can either affect the child mildly or
greatly. Let me give you an example as a child, a lot of time is spent going through major operations. Due to the problems with leg discrepancy it is difficult for some to do sports and they do miss a lot of school due to the amount of hospital visits. However saying that we tend to be excellent swimmers due to our upper body strength though we don’t tend to realise how strong we are sometimes and that can cause problems. Children with the syndrome also look a lot older than they are as they grow at an exaggerated rate and go through puberty at a very early age. We had one parent tell us that her baby daughter grew out of her Babygros overnight. Even I was surprised by that but apparently that’s quite common with BWS babies.
To be continued at our next speaker meeting on 22 May Don’t miss out make a note in your calendar.
3 thoughts on “Living with BWS – an extraordinary life journey”
I found this talk very interesting, thanks to Deborah for sharing her experience. Can’t imagine how scary it must be to know you are one in a million. Just wondered if the internet, fb etc makes it a lot easier to share information about diagnosis and for people to get in touch with you? Look forward to 22nd May to hear more:)
Thank you for your lovely comment I will be delighted to reply to any questions after part 2 has come out on the 22nd. However I will just say the internet revolution has been a miracle for those of us with BWS. Best wishes Deb
Its great that people feel able to speak about how they cope with their health issues in the eclub. Look forward to part 2.