So we went to ped endo to have a thyroid ‘check-up’ due to Joey’s RET mutation. His blood labs came back OK but w/ two levels that were on the high end of normal. Then the shocking news. He has a nodule (6mm) on the right lobe of thyroid. We were very upset hearing this. Our ped endo was kind of at a loss because this case is so complicated. He emailed a ped endo cancer specialist at Sloan Kettering in NYC who said the following:
Hi Paul,
Hope this finds you well. I reviewed the patient material you sent; quite an interesting problem.
As you may be aware, it is extremely uncommon to find medullary ca ,even for those with the most aggressive mutations for MEN2A, before age 5. Given his age, the normal calcitonin and the small thyroid lesion I personally would do nothing other then repeat the US and calcitonin in 6-12 months. I would consider biopsy if the lesion increases in size to 10 mm or so. The metanephrines also seem pretty unremarkable and not nearly in the range one sees with pheo. Of note, current recommendation is not to start screening for a pheo in affected individuals until after age 10.
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I had already scheduled an appt down at CHOP w/ the thyroid team down there. After talking w/ our ped endo he agreed another third opinion is warranted. So I am hopeful that we just need to watch but at the same time I almost want the biopsy so I know everything is benign. It is a 70% chance of benign….30% in the other direction, which is really hard to think about.
So on 10/17 we travel down to Philly to hear from them about formulating a plan.
Onto some GREAT news. Joey started preschool, 5 mornings a week. He is doing FABULOUS. Totally potty trained. He is still pooping 1-3x a day. NO INTERVENTIONS since Feb…probably the longest we have gone w/out an irrigation. He is growing, eating like crazy, sleeping wonderfully and going to the potty (even outside the house) w/ ease. I am so happy and proud of him. All is good in the land of gastro stuff.
Send us some prayers, good energy, good thyroid vibes- we could use all the help we can get.
Thanks for reading…..