Samuel John was born on September 24 2001 at 1:09am. My name is Rachael, my husband is Jodie and Samuel's big sister's name is Grace (27.9.99).

Samuel was born at 41 weeks of gestation and weighed 9lb 70z, his sister Grace weighed 6lb 7oz also at 41 weeks. Samuels birth had no complications and ultrasounds during pregnancy came back normal. When I first held Samuel in my arms apart from the beauty of my son, I noticed a large strawberry birthmark on his nose and forehead (flammeus nevus) and a large protruding tongue.

The midwives were checking Samuel and apparently their concern was little. However for a precaution - a pediatrician came to see Samuel that morning. The doctor was happy with Samuel (I later found out their major concern was Downs Syndrome which was disqualified). We arranged to have a follow up appointment at 6 weeks of age.

Samuel was breastfeeding fantastically and their were no problems. His naval was weeping from the umbilical cord and his tongue still protruded. As far as babies go, I could not have dreamed of a better baby.

Again at 6 weeks the paediatrician said Samuel was fine and his tongue was 'purely a cosmetically large tongue'. With that I believed the paediatrican was to know best.

Jodie's aunt is a midwife and upon receiving a photo of Samuel and Grace shortly before Christmas; she conferred with her colleagues and felt Samuel had Beckwith-Wiedemann syndrome. On Christmas eve last year (2001), she quietly took me aside and highlighted what she had been thinking and gave me a copy of a report on BWS from a pediatric journal in her hospital.

I fell to pieces and didn't know what to think. The email 'Trip To Holland' basically summarised how I was feeling. As a Christian I also could not understand how God allowed my son to be born with BWS. After prayer I feel God has plans for Samuel and out of whatever seems negative their are always far more positive outcomes.

We saw the same paediatrician who still felt nothing was wrong, however to put us 'at ease' - Samuel had an ultrasound and was sent to see the Director of Genetics in our state. The ultrasound came back normal. Our appointment at genetics went well and within 10 minutes Samuel was diagnosed with BWS. At this stage Samuel was 4 months old.

Because we did not know at birth, I almost felt like I was grieving for a healthy son I never had.


Samuel is now 9 1/2 months old and absolutely as gorgeous as ever. Jodie and I feel so much more at ease the more time goes by and we know much more about BWS. Samuel has a mild case of BWS. He has no intestinal problems, a small umbilical hernia which is healing itself, macroglossia, strawberry mark, ear pits and 95% growth rate, no asymmetric growth. Samuel has trouble eating anything other than finely mashed foods, he dribbles non-stop and seems to gag and cough from his tongue size.

Grace and Samuel are so cute to watch growing up and have a great relationship, it is something to nurture. They will share their 1st and 3rd birthdays this September.

Samuel is scheduled to have tongue reduction surgery at the ...... Royal Children's Hospital in October or November of this year. Samuel has ultrasound every 3 months and we are in the process of organising afp tests with the approval of our geneticist. If she does not approve them, I will ask our paediatrician. I have found the knowledge of BWS to be basically nothing, however our regular doctor and all at our clinic have been so attentive and supportive in any way possible.

Please feel free to contact me any time by email.

Rachael