Cason

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Cason was prenatally diagnosed with an omphalocele containing only bowel and an adrenal hematoma at 18 weeks. We had an amniocentesis done at 20 weeks and it showed no abnormalities. He measured very large for gestational age and always had his tongue sticking out so we suspected Beckwith Weidemann Syndrome. He was born by scheduled c-section on October 27, 2016 at 39 weeks 1 day, weighing 11 lbs 2.3 oz with no unexpected problems other than low sats for about 12 hours. After birth, his surgeon squished all of his bowel back into his belly through the small opening and used compression for 11 days before closure surgery. He was discharged from the NICU at 13 days old. 

At one month old he was diagnosed with mosaic 2q35q37.3 deletion and we were told to hope for the best but expect the worst with his development as this deletion typically causes severe delays and disabilities. One month later he was formally diagnosed with BWS and we started cancer screening shortly after. His BWS markers are macrosomia, macroglossia, complete left side hemihypertrophy, stork bite, and omphalocele.

We noticed staring episodes throughout the first few months of his life, where we could not get him to respond until he snapped out of it on his own. After some tests, the neurologist told us he had a slow eeg and he was also diagnosed with partial Agenesis of the Corpus Callosum. His neurologist advised us to be prepared for possible severe delays or disabilities because this diagnosis in addition to his chromosome deletion puts him at higher risk for these.

 

So far he is on track developmentally and is a very happy little boy. There is a long road ahead of him but we remain hopeful that he will overcome it all.