Genetic Testing

If you’ve never thought about genetic testing and Hirschsprung’s disease, you need to google it. The gene that is associated with HD is complicated.

Should your HD child have genetic testing?

Here is something I read on the Johns Hopkins HD research page. ~~~~~~~~~~~~~~~~~~~~ Is there another syndrome caused by changes in the RET gene? Multiple Endocrine Neoplasia Type 2 (MEN2) is an inherited cancer syndrome. People who have MEN2 are at increased risk to get medullary thyroid cancer (MTC), pheochromocytoma (tumor of the adrenal gland), [...]

Slightly elevated TSH

The blood work ordered by CHOP came back a little funky. His TSH was a 5 and should be below 3, according to endo. It might be because he recently had a very very little cold. We will repeat in 3 mos and see if it stays, goes higher or lower. If it goes any [...]

Went down to CHOP yesterday.  Long story short they said I shouldn’t be to worried about the nodule.  It is very very small and does not look suspicious.  They took some blood to test his thyroid function.  Dr. is also contacting a colleague down at Johns Hopkins who specializes in MEN 2a and will touch base w/ her regarding Joey’s specific RET mutation.  We will go back in a year to do another u/s and blood to make sure nothing is changing/growing.  With two doctors telling us to wait and watch that is what we will do now.

We are focusing now on where Joey is.  FULLY trained.  Pooping like a SUPER STAR.  In school five mornings a week.  Sleeping, restfully through the night.  Growing, singing, laughing, pooping, talking, pooping, running, pooping, throwing fits, pooping…..doing great.  (This is all 9 months post Botox #2, NINE months irrigation free, NINE MONTHS!!!!!!!!!!!!!!!!!!!!!)

pediatric endocrinologist and surprising results

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. [...]

Genetic Testing results

Joey’s genetic testing results came back. He has a mutation on the RET gene (exon 2). Apparently a mutation on this exon has never been seen before and the lab who did the test offered to test Joe and I free of charge. Mutations on RET gene can be related to an endocrine disorder called [...]

Johns Hopkins HD Research Study

https://aravindachakravartilab.org/pro/Getting_Involved.html easy…send in blood or saliva samples from all immediate family members, medical questionaire.  does not cost you anything and does not take much of your time.   GET INVOLVED.  We need a cure!