Welcome back to our interview with Deborah Holland Axell which follows on from her story first published here on 7 May 2014.
We are picking up on the problems faced by people with BWS of having so many medical operations.
John: What are the main operations you have to go through with the syndrome?
Deborah: Some of the operations we have to go through are major and cause a huge strain on families on top of coping with what the syndrome has to throw at them on a daily basis. Tongue reduction operations followed by speech therapy; my therapist was Australian which causes amusement sometimes. I had speech therapy for two years and basically had to learn to speak again. I was lucky I had mine done as a teenager and have not had to have it done again but the common practice is that the operation is done when they are babies. Unfortunately this has led for a few children having to have the operation done twice or in a worst case scenario four times, as the tongue grew back.
Then there were the leg discrepancy operations to slow the growth down on one side. I am back to more than the pre operation level 25mm difference. However, had it not been done, I would have been more lopsided than I am now.
Then there is AFP testing and multiple scans for cancer also chemotherapy if cancer is found. Plastic Surgery on the stomach area, (exomphalos) hernia repair and bowl operations and tracheotomies in some children.
The list goes on dependent on the person. All these things can make the families and especially the children feel isolated and cause more un-needed stress.
That is why the B.W.S support network exists so that they don’t have to go through what I went through. This is so families feel supported and know there is a non-medical person who has been there and done that and who completely understands. And there is someone who also understands when when a young child comes to the end of their life due to cancer or other complications. We are a shoulder to cry on so they know they are not alone.
John: How does the syndrome affect the families and those with BWS?
Deborah: There are over 30 characteristics a BWS person could have!
Ear Creases; Enlarged Tongue (Macroglossia); Umbilical Hernia (Exomphalos); HEMIHYPERTROPHY (overgrowth of one half of the body or one limb); NAEVUS FLAMMEUS (reddened skin marks or birth marks); Enlarged Kidneys (NEPHROMEGALY); HYPOGLYCAEMIA (Low Blood Sugar);
I have listed the main diagnostic characteristics however that it is only the start of the struggle the families have to go through. From the start the parents are faced with mind boggling information being thrown at them at a very frightening time in their lives often from doctors who are struggling themselves to work out what is going on with the child however and that is only the start.
We have had parents come to us with stories of going to their GP with their son or daughter and being told they are imagining it or I have never heard of it and I am not going to bother looking it up attitude. When they do find a doctor willing to listen it’s generally the parents or adult with BWS teaching the doctor about it. They have to go through their medical history from the year dot, time and again, which is a huge strain. It should be the other way around.
That’s why given the opportunity I talk to medical students about the syndrome so if they come across anyone with it at any stage in their life they are aware and can help just by saying I have heard of it and that is such a big help.
For example there is Joshua he has BWS is severely autistic and also has many additional medical complications. He needs a wheel chair a lot of the time as he tires very quickly. However he is now 13 years of age and nearly 6ft and still growing at a rapid rate> His mum cannot push him anymore as he is too heavy and needs some means of electric assistance> The health authority will not pay for one the same goes with the built up shoes they are in the wrong area postcode wise as are many of the families and the local health authority does not provide them it would cost around £300 they were told to have the shoes built up so he can walk properly and that’s without the shoe itself. He grows out of them on a monthly basis and it can take several weeks for them to be built up anyway. He is also still undergoing major operations due to the syndrome. Another tongue reduction is due despite two previous operations.
John: How do you feel Rotary can help?
Deborah: Wow that’s a great question usually it’s me helping others within our Rotary Club with our events so have really had to think about this. Rotary can help us help the families by spreading the word about the charity and talking about BWS and raising awareness. We also need people to fundraise for us in any way they can. The way I see it if we can fundraise and raise awareness we can help the families two fold. The more we get people talking about it the more we can help them and more cases will come forward.
Having a platform to speak about the syndrome is so important to us as we need a voice and Beckwith-Wiedemann Syndrome needs to be heard.
John: Deborah, you are clearly a very courageous young lady and perhaps in thanking you for joining us. Many thanks for sharing your story with us.
If you would like to support Deborah please visit her Just Giving page. http://www.justgiving.com/Daxtell Updated
Here are some useful contact details for those who would like further information.
Web page: www.bwssupportnetworkukandeurope.com