Blood tests and ultrasounds

[Anna-Lisa]

Our daughter was diagnosed with BWS when she was 8 weeks old. We were told at our initial consultant appointment that she would have blood tests every 6 weeks and ultrasounds every 3 months which we were happy with. The hospital has now changed their mind without explanation, and are now only going to do bloods every 3 months. We are obviously really concerned about the situation. Can anybody tell me what the guidelines are in this country?

[Amh22]

Hi, for USA: AFP every 6 weeks and Ultrasound every 3 months. The AFP is very important in order to detect any hepatoblastoma. Please ask her hospital to follow the initial guideline. Best regards.

[josh1014]

I know it is scary in the beginning, but for us every three months was fine. Our son is now 9 years old and no longer needs either test. You'll be so relieved when she turns 8 and the risk lowers. We live in the United States and our son has a geneticist at Children's Hospital in Philadelphia, Pennsylvania. Are you close? We highly recommend him...Dr. Deardorff. We also highly recommend the geneticists at Children's Hospital in D.C. who specialize in BWS. How is everything going?

[ccmama]

My son's AFP levels have steadily decreased since he was born, he is 11 months now. Drs told us we may soon be able to do our bloodtest every 3 months as well. We are at Johns Hopkins in Baltimore.

[Songbird63 Administrator BWS Support]

I assume you are asking about the UK. In the past most hospitals in the UK used to do APF blood tests every three months to monitor for hepatoblastoma. However, new guidelines from GOSH say that this testing is unreliable and therefore shouldn't be carried out.

This is a link to their new information about BWS:-

gosh.nhs.uk/medical-informa...

I hope you find it helpful. It is always difficult when changes are made to monitoring programmes but the latest advice from GOSH is based upon research. I assume your daughter is in the subgroup of BWS that needs Wilms tumour surveillance? If she isn't then she doesn't need ultrasound monitoring either...again the article explains this.

Please come back to me if you have more questions.

[Anna-Lisa in reply to Songbird63]

Thanks for the reply, yes we are in the UK. Not even sure if she's in the subgroup- that hasn't even been mentioned to us. We are waiting to see the geneticist in December- by then she will already be 6 months old. Really feeling like we are not receiving much support from our local hospital. We still have so many questions and feel like we don't know where to turn to for answers.

[Songbird63 Administrator BWS Support in reply to Anna-Lisa]

Has she had the genetics test yet? Would be good to have results for when you see geneticist and they can they explain the results to you. She may not need any tumour monitoring at all but in the meantime until you have results they should put that in place. Some UK hospitals are not very aware of BWS, regional children's hospitals seem to be better but it's a bit hit and miss. Where abouts in the UK are you and who have you been seen by?

The new GOSH leaflet I gave you a link to is the most up to date info and explains quite a lot of aspects of BWS. We are in the process of updating our support group website to agree with this as we work closely with professionals at GOSH in many areas of BWS. You might still find some of the website useful...bws-support.org.uk.

My son, now 15, has BWS and I help run the support group so please come back and ask any questions and I will try and help.

[Anna-Lisa in reply to Songbird63]

Yes she's had the genetics test which diagnosed bws but not much else has been explained to us. She has had one ultrasound of her abdomen already. We are in Norfolk so are seeing the geneticist from Adenbrookes in December.

[Songbird63 Administrator BWS Support in reply to Anna-Lisa]

The genetics test should tell you which subgroup she is in and therefore if she is is the group with increased risk of Wilms tumour. The majority of BWS children are not in this group and so don't need monitoring. If she is then she will need 3 monthly ultrasounds until around the age of 7. Adenbrookes should be well placed to be aware of all this.

If she has macroglossia she will need to be referred to GOSH after she is 6 months old, for assessment. Any other problems, such as abdominal wall defects or hemihypertrophy should be addressed by Adenbrookes.

The majority of children with BWS do very well but I can understand it is a worrying time for you. I hope you manage to enjoy time with your lovely daughter too...it's so easy to let the anxieties cloud everything and miss the joy and pleasure she brings, and when you look back you feel you've lost so much of the early days.

We are here to support you the best we can so do ask as much as you need.

[Anna-Lisa in reply to Songbird63]

Thank you. We are at Kings Lynn hospital- only seeing the geneticist from Adenbrookes. Do you think it would be beneficial to ask to be transferred to Adenbrookes for all her care as they are a more specialist hospital? We just want the best care got her and I don't feel she is getting that at the moment. Sorry for all the questions!

[Songbird63 Administrator BWS Support in reply to Anna-Lisa]

She needs to be under the care of a paediatrician who is familiar with BWS, so it depends if Kings Lynn are or not. If you feel they are not on top of things then yes I would ask to go to Addenbrookes. And ask for a peadiarician who is familiar with BWS as many aren't. As a regional centre Adenbrookes should have seen a number of BWS children before. I suggest you take a copy of the GOSH leaflet with you in case they haven't seen it.

[SophieMom]

We are in Boston, MA and my 2 year old has blood test and ultrasound every three months until age 8 or 9.

[nancyc]

We live in the US. Texas to be exact. Our Myles is now 4 and we have only done ultrasounds...no blood tests. So far, so good. I think it is OK that the recommendations have changed.

[Emily_G]

Hi!

My daughter has an abdominal ultrasound screening every three months and AFP blood test every three months in between the ultrasounds. According to my daughter's doctor, they still screen children of all subgroups three-monthly here in Sweden.