We have results for you…not!

A couple of days ago we received a call from the geneticist’s office. It went something like this:

“Hi this is the geneticist’s office and we have some results for you. Are you free to talk right now? I understand you are waiting for some results from your CVS testing, specifically I am calling about your BWS results. Unfortunately we could not get any results from the sample that was taken.”

So I know that it is just her job to make these calls. We also knew that doing a CVS instead of an amniocentesis could result in a higher possibility of not getting conclusive results for BWS. That still seemed like a really pointless call to be honest. I asked if we also have kareotype results yet and she mentioned that those results haven’t come in yet. It probably would have been fine to just have given us the kareotype results and the inconclusive test results for BWS at the same time.

So now we wait until little baby is born to run another test to see if she has BWS. We were told over the phone that we could now do an amniocentesis if we really wanted to rule out BWS, but we agreed with the geneticist that it seemed really unnecessary since the condition is very easily managed through childhood.

BWS stands for Beckwith-Wiedemann syndrome. It is a genetic disorder that affects about one in 12000 babies born. This may be higher but many minor cases often go undiagnosed, and the geneticist mentioned that he often will see adults with BWS who never knew they had it. The reason we are specifically being tested for this condition is because having an omphalocele and other abdominal wall defects are possible symptoms. If baby has BWS, she will be huge as a baby – about 90th percentile. That is not something I am looking forward to. Addison was always and still is just a tiny little peanut and my weak muscles already ache and cry carrying her around. There may also be certain body parts (an arm, a leg, certain organs) that also grow bigger. The accelerated growth slows down at around 8. The more serious symptoms would be an enlarged tongue, which could cause breathing and eating complications, and rare kidney tumours. For the tongue, surgery can be performed. For the kidneys, kids with BWS are monitored very closely and has ultrasounds every 3 months. As long as the tumour is caught early, it can be removed and not turn into cancer.

If you want to read up more about BWS, the US medical library has a pretty good website.

Anyway, more waiting. Hopefully we will get some more information soon.


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