Our son Aiden was born in June 1999 at 37 weeks gestation.  He weighed 8lb 4oz, which the doctors thought was quite large but not extraordinary.  I did notice that his tongue was sticking our a little but thought that is was “cute”.  About ten minutes after he was born, my sister was nursing him and commented that he seemed to be going blue.  The nurses rushed him off to ICU.  For the next day, his health see-sawed, with feeding problems, oxygen saturation problems and hypoglycemia. He also had an omphalocele (corrected at 2 weeks), stork bites, double inguinal hernias and ear creases After two days, the doctors diagnosed BWS.  In the next few weeks, his tongue grew dramatically, causing more and more obstruction to breathing.  His hypoglycemia seemed also very difficult to control, as he needed to be tube fed and ended up taking Diazoxide for the next year.  His breathing was temporarily eased by a cut-down NP tube and we eventually got everything together and brought him home at 8 weeks (being exclusively breast-fed).  Two days at home and we were back for a “routine” appointment with the endocrine team and discovered he was hypo again.  Back into hospital, this time for myself and my husband to learn how to insert a feeding tube.   Once again, Aiden was stabilised and was ready to come home, unfortunately on the day I went to pick him up to come home, he went into respiratory arrest (aged 11 weeks) and was transferred to ICU.  The respiratory team decided then, that a tracheostomy was the best course of action and was performed in August 1999.  He came home again a fortnight later, after we had had the crash course in trachy care.  Several months later, we were still having feeding problems and still using a feeding tube.  It was decided, after much consideration, to do a tongue reduction in March 2000.  A condition of this surgery was that he had to be weaned off the Diazoxide, which we managed two days before surgery!  The surgery improved feeding a little, but we still couldn’t get rid of the feeding tube but I’d had enough of that and we had a g-tube inserted in June 2000.  Almost immediately, Aiden began to eat solids, although drinking was a little trickier.  After lots of work with the speech and occupational therapy, feeding didn’t become an issue .  We didn’t even use the g-tube after about 4-5 months and were in “negotiations” to have it removed, when he removed himself.   His airway problems had seemingly improved, but we were having trouble weaning him off the tracheostomy.  As it turned out, we needn’t have worried, because we woke up on New Year’s Day 2001, and Aiden had decannulated himself in the night and was CRYING to be taken out of his cot.  He had no problem breathing at all.  Phew ! Aiden has just turned 4 and after a rocky start, the only things we do now are speech therapy and the regular ultrasound scans for tumours.  But there is more to this story…..

I also have BWS.  I was born in 1973 and I only know what my mother has told me.  When I was born, I had an exomphalos, stork bites, hypoglycemia and hypocalcemia.  Surgery for the exomphalos was done at 4 days and I was able to come home at 6 weeks. My mother was told to take me home and that this “Beckwith Syndrome” was a freak and that nothing else was going to go wrong.  It was discovered at 6 years that I had a ASD and this was repaired that year. I have a large tongue, but not enough to cause major problems, although, my lower jaw is longer than it should be and I had a small amount of speech therapy in primary school. BWS was so insignificant to me that I didn’t even mention it to my GP or OB/GYN.  It was only when Aiden was born, that I remembered I have BWS.  We also have an older child, Thea who is fine.  We have since been told by Geneticists that we have a 50% chance of conceiving another BWS child.  Are there any other hereditary cases of BWS?  I’d love to hear from you.  

Susan

Australia