Appointment tomorrow

Hello, I'm new to the forum! My 15 month old son was reffered to pedeatrics 8 months ago after his GP noticed he had been completely off the scale for height and weight since birth with no one having questioned it. We later realised he has ear pits and (did have) an umbilical hernia (which now appears to have gone/healed). We had our first appointment 6 months ago and the pedeatrician was so unsure and advised we review again in 6 months......well here we are! Appointment tomorrow and I truly believe not much has changed other than he clearly now even bigger! She advised we may need to consider whether do or don't go for the blood test, and of course for peace of mind I hope that we can. wish us luck!

Claire x

3 Replies

  • Welcome to the BWS support group forum.

    I do hope you are able to have the genetic test for BWS as it would clearly be helpful for you to know one way or another. Most cases are able to be diagnosed genetically, although a very small number aren't. Until a few years ago the syndrome was diagnosed if the child showed certain clinical features. You may find it useful to look at our website for more information on this.

    Depending on which regional genetics centre your child's blood is sent to the results should be back in a month or two...GOSH aim for a turn around of under 4 weeks.

    Please come back for any further advice or support, especially if the result is positive.

    BWS has a wide spectrum and from your description of your son it sounds as if even if he does have BWS he would be at the mild end of the spectrum. All the best.

  • Thank you so much. The appointment went well and whilst he counties to be vastly off the scale he is at least evenly off the scalar for both height and weight. The DR was keen for the genetic blood test NOT to be done. She had discussed it at length with the genetics team at the hospital and they all agreed. (Part of me did just want to say well if you do the blood test you'll know for sure either way?) but she was hesitant and said that they dont decide on a blood test lightly because it may throw up other information we may not want to know about our genes as a family. Is this response common?

    She wants to see him when he is 2.


  • I'm glad it went well for you. The fact that the doctor has spoken to the geneticists is encouraging, as long as the geneticists are familiar with it is a regional genetics centre.

    Have you checked out any other clinical signs he may have of BWS? I assume he doesn't have macroglossia? If it's just overgrowth that is the concern then I imagine that they probably wouldnt do the test. Although I have to agree with you that if they did it then at least you would know. If they dont think it's BWS do they have any other ideas?

    If you really dont feel happy with their advice you can always ask for a second opinion, preferably at a regional children's hospital.

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