Waardenburgs Syndrome

[lottiejenkins]

I have been waiting to hear whether or not Wilf has WS! Background is that i mentioned to a friend with a medical background that as well as his deafness he had albino patches on his skin. She mentioned WS and whilst he was in the observation unit for his behaviour i mentioned it to his doctor who didnt seem keen to pursue it. I then approached his paediatrician and said i wasnt going to be fobbed off again. I took a load of info and told him about all the other symptoms Wilf had, the deafness, premature graying of the hair, constipation etc. He knew i wasnt going to let it go and referred me to Dr Sandford at Addenbrookes. Testing has been done and it appears Wilf doesnt have Type 1 or 3. Dr Sandford has said that in his opinion he has type 2 as some of his facial features seem to fit that profile. There is no testing for Type 2 at the moment. When i rang GOS Hospital a few months ago they said they were planning to apply for permission to test so i am going to ring them tomorrow and ask if Wilf can go on a waiting list. There is 1 in 40,000 chance of having WS and Wilfs even more rare as as far as we know no one has had it in our family. That means he is in the 10% that are the first to have it if that makes sense!!
Sorry for the long post!!

Interesting to see your post - my cousin has Waardenburgs but not sure if it is further back in the family - not obviously though I do see the occasional feature (eg my dad has pale skin patches). She has the white shock of hair and facial wideness to the eyes, though not deaf. I don't know what type she has to be honest and I think she was diagnosed based on how she looks, not genetic testing (was over 45 years ago) I only really know what I do about it because I have been reading up so much to see if anything fits with DD#1 SN - though I doubt Waardenburgs has anything to do with her issues. My cousin also has major SN not related to Waardenburgs and sadly I do not know her as a person, only hear about her.

I hope you get some answers for Wilf anyway - good luck.

Thanks for replying. Ive been wondering if the Miliband brother with the grey shock of hair at the front has it!! I know he isnt deaf either and it has intrigued me!!

i used to work with a guy who had hearing problems, a white bit in his hair and patches on his skin but he just said it was vitiligo but now you've got me wondering!

my cousin has the white shock of hair but nothing else going on. Made us look at waardenburgs for dd3, especially as dd3 has the non pigmented patches of skin along with being deaf and a few other things. Turned out she had something else as the skin patches follow a certain pattern. Hope they let you on the waiting list.

Apparently i misunderstood when i rang the first time and they are applying to test for type 1 and 3...... There is a clinic in Holland that tests and i spoke to the doctor today and he did say that some clinics are not licesnced to test so that is a non starter. He was very kind and dealt very well with me sobbing down the phone. I spoke to our lovely vicar on Saturday night who made me smile. She said that Wilf isnt one in 40,00 he is one in a million which i thought was lovely.

aww that was nice of her and very true!

oh no lottie, are they definitely going to be able to test or is that the permission they need to get? Wasn't it your ds that was in the paper? A rather handsome young man from what I remember

They have done molecular testing for types 1 and 3. No licensed testing for type 2 is available. Yes it was Wilf in the paper. He is rather handsome isnt he???