rach84

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

griddell in reply to rach84

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.

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Spotsandstripes

I also diagnosed my child via google before clinical diagnosis. As she was premature we were already under a paediatrician so managed to speed up genetic testing. But it is a long process. From the blood test it took 3 months to get the results and I think she was almost 6 months old before BWS was confirmed.

Good luck with getting a diagnosis.

rach84

Heh. Yes she has scans every 3months. Tbh I knew nothing about bws. It was during my scans something was detected but all testing was fine bit was after birth we knew something wasn't right because of her tongue. The drs kept dismissing us but she would really struggle to feed so I pushes for extra tests. It's only just got easy she's fully weaned and basically had to learn herself. It's been a long road. But push for genetic testing thArs the only way we got anywhere. The chances of her getting cancer are slim (I feel) she's just lucky she will be tested if you want any advice or support please contact me on 07940481440 if Iuss ur call leave me a message ill get back to you xxx

griddell in reply to rach84

Thank you. I have managed to get an appointment for a blood test on wednesday next week. I would never be so bolshy if it was me that needed to see a consultant but it's amazing how you can find your voice for your kids. Did your daughter's results also take 3 months to come through like spots and stripes?

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rach84 in reply to griddell

The testing process was quiet long. I've never counted days so much but once the 3 months where up and I rang they then told us the test had come back as inconclusive. Basically they had results but wanted to be sure so tested again but also this time took samples from myself and my husband. We had to wait another 3 months but they did start the scans so some worry was taken away. I think it was hard because from the beginning we knew something wasn't right and she struggled to feed terribly and we just didnt get the support to the point I actually started doubting myself and thought it was all in my head which made me ill. However I have come out the other side and quiet happily told other professionals that they where wrong and how they made me feel!!

Abi has what called UPD Beckwith weidamann syndrome. So when the genetics re tested they where looking at why the chromosome had not formed right.

I know how hard the process can be just take each appointment as it comes and stay strong with the drs. Don't let walk all over you.

Please let me know how the testing goes and hope your ok xxx

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bonkers

Griddell & Rach84, your stories slightly mirror my past frustrations with my own daughter. My daughter is now 4.1/2 and was only diagnosed in January this yr after me constantly nagging my GP who never took me seriously with my concerns. My daughter had a larger tongue than "normal" when born and also rapid growth ever since. Im glad you followed your hunch. Some doctors need to listen to mothers a lot more.

Griddell, i have been told by our consultant, my daughter displays "mild symptoms" and this is part of the reason our doctor refused to believe there was something wrong. Our initial reaction was fear and anger as she had been denied monitoring of her condition for over 4 yrs and her first scan was terrifying as we thought the worst but results came back normal. The word "cancer" is horrendous, but i think proffessional health workers always break news with the worst that can happen first. please stay positive, my consultant even told me there are people walking about unaware they have this condition, your child is going to be monitored, thats a positive. x

emmaleigh83

Hi all i also had to nag my hv and gp to grt referred to a pedeatrician as i knew something wasnt right from when she was born it took me 8 months to get her diagnosed and when i saw my dr she gave me the results and was honest snd said she had a quick look on internet that morning so she wrote beckwith wiedemann syndrome down for me and i had to look everything up myself i was mortified and yh i cried so bad as i felt helpless but she is now 18 months old and weighs 3stone she wears 5-6yr clothing and the silly comments people make is very hurtful as she doesnt really eat she sees so many different people she has a pedeatrician a dietician a physiothetapist a podiatrist she also has bloods done every 6 weeks and scans every 3 months it is a struggle but from the moment she wakes up to the minute she goes sleep shes so happy and always smiling it makes everything worth while and ive had loads of people comment on how happy she always is i hope this helps x

bonkers

Emmaleigh83, I think we all expect our GPS to have answers and you would think with the amount of anti natal screening these things would be picked up but sometimes this isn't always the case. I'm glad your GP dug a little deeper. Its a massive shock for us parents to find out there is something "not right" with our precious wee babies. I really think my wee one got me through the shock and BWS is now shoved to the back of our lives until my daughters 3 monthly scan. We had our daughter referred to a geneticist (by our consultant and not GP) who explained everything in simple terms what BWS is and why it happens. Because there are varying degrees of BWS, the geneticist should be able to advise each individual case. She also wrote a letter to my daughter for her to read when she's older explaining exactly the impact if the condition. We are reminded everyday by people how "big/tall" our daughter is and she's often told to "get that tongue in". Its only human. you hurt for your child but ask any parent with a child with a visually obvious condition its not easy. I tell them shes going to be a model haha. i just smother my wee one with lots of love and cuddles. Good luck Emmaleigh83, stay strong and try not let the fear of BWS overtake your life. x

SophieMom

Hi. My 5 month old daughter was diagnosed at birth but it was not confirmed until 8 weeks later when the genetics team at Boston Children's Hospital sent out labs to Canada. I would recommend, if concerned, going to a geneticist. They are the team the coordinates all her care and refers to whatever specialist she needs. MGH also has a good team. Because BWS is rare most pediatricians don't have much experience with BWS. I have a great pediatrician who has been in practice for over 40 years and my baby is his first BWS patient.

SophieMom

I apologize the recommendations I listed were for New England area.

jools123

Hi our genetic doctor is M. Splitt from the centre of life in Newcastle .Tyne and Wear. I have two grown men now with BWS. Theses genetic doctors as well as Southampton General Hospital are very helpful. Hope you get your answers.