I stumbled across BWS a week ago whilst googling Earlobe Creases. My 11 week old has creases in her earlobe (as does her Dad) and the Paediatrician that checked her over when she was born picked up on them but and told me they are sometimes a feature of syndromes but dismissed it as she saw that my husband was fine.
Last week I decided to look up what syndromes they would be in a feature of just out of curiosity and started reading about BWS. In addition to the earlobe creases, my daughter has an umbilical hernia and stork marks to the nape of her neck. She was 7lb 15 when she was born by c-section at 38 weeks so not huge. She did however go from 50th centile for weight and length at 3 weeks old to 91st centile for weight and 95th centile for length by 7 weeks. The Health Visitor was shocked at the increase.
Her tongue does not protrude from her mouth but she did have trouble latching so I gave up breastfeeding and when I moved to bottle feeding I would often comment on how her tongue was in the way.
I took her to my Doctor a week ago and although he has said he will refer her to a Paediatrician I have the feeling that he thinks I am a neurotic Mother. He was aware of her umbilical hernia but he didn't actually look at her at all this time. He has indicated that it will be 6 weeks until we can see a paediatrician which feels like such a long time. My worry is that if it has come from her Father that my eldest daughter who is 2 and a half may also have the syndrome and many need the screening.
Does anyone know of a Paediatrician in the North who is familiar with the syndrome so that I can give the name to my Doctor for a referral. I would like to get to a conclusion one way or the other as soon as possible just in case my eldest daughter also has the syndrome. I don't want to waste time seeing a paediatrician who is as unfamiliar with the syndrome as my Doctor.
Thank you to anyone who can help.
It has taken over a year to get my daughter diagnosed. Where about ru in the north? I'm nw near Liverpool. We went to the genetic clinic. My daughter has very mild symptoms but had a protruding tongue. This was a nightmare at the beginning as she couldn't feed. She also has the birth mark at front and back of head and a big birth weight. She has no other symptoms and her tongue is correcting itself.
My advice would be don't let them turn you away demand genetic testing. It was only through us constantly telling the paediatrician we wasn't happy that we finally got referred to genetics and thank god we did. Mothers gut feeling is always best don't let professions make you feel your neurotic believe me Ive been there and I can now say 'Told you I was right'.
Hope your appointment comes through quick and is successful xx
Thank you for your response. It must have felt like a really long year for you! Does your daughter need the cancer screening? Could they tell you that it is only a mild case of the syndrome from the genetic testing or is it that your daughter has very few features of the syndrome. Did you suspect it was BWS? If so, it must have been very frustrating reading that some children need screening every 3 months and not being able to get anyone to take you seriously. .
I am in North Yorkshire but I will go anywhere I have to to get an answer. None of the features of the syndrome that my daughter has so far are troubling me. It's just the risk of cancer that is making me feel sick. It may just be a total coincidence that she has the creases, birthmarks, hernia etc but like you said, I'm going with my Mother's instinct.