re: ...

Genetic appt update:


Genetic appointment went well. The doctors (genetics and endocrinologist) agree that it is PPH also known as Albright hereditary osteodystrophy (AHO). We are waiting on an approval letter from the insurance to proceed with more blood work. We need that letter to make sure the lab that we need to use is in network. It's a lab out of John Hopkins, I believe.

Anyway, the treatment that we are doing now is the same that we would be doing even once a clearer diagnosis comes in.

It just means that the endocrinologist would monitor her more closely.

YAY for answers.. and boo for sucky answers and more lab work

How did she do?

im sorry   i looked it up and it doesnt seem too great, tho hopefully since they caught it early she wont have the mental issues associated with it.

how is she doing?

Quoting Ailey+Lennon+Renner's Mom:" im sorry   i looked it up and it doesnt seem too great, tho hopefully since they caught it early she wont have the mental issues associated with it. how is she doing?"

So far she doesn't have any of the MR issues. The doctor said she is 99.9% sure due to the endocrin issues that this is the appropriate diagnosis. The MR issues is the only marker she doesn't have.

Quoting Kelly&Coralie:" YAY for answers.. and boo for sucky answers and more lab work How did she do?"

She did okay. The doctor didn't touch her much so that is good. She seems to do well with "talking doctors".

Quoting Meg ♥:" So far she doesn't have any of the MR issues. The doctor said she is 99.9% sure due to the endocrin issues that this is the appropriate diagnosis. The MR issues is the only marker she doesn't have. "

thats good   MR is a issue that can happen with hypothyroidism in general if under 3 years of age, my son thankfully doesnt show any issues yet either, but he is only 11 months now.

Quoting Ailey+Lennon+Renner's Mom:" thats good   MR is a issue that can happen with hypothyroidism in general if under 3 years of age, my son thankfully doesnt show any issues yet either, but he is only 11 months now."

I was under the impression it's more so for children who aren't treated or wait too long for a diagnosis?

Quoting Meg ♥:" I was under the impression it's more so for children who aren't treated or wait too long for a diagnosis? "

but just slightly off levels can cause it. my son was diagnosed at 4 weeks old, and we were told that even those 4 weeks could have caused issues. its been COMPLETELY within normal range since 2 weeks after that, so they might try to wean him off when he hits 3 (his might have been due to his traumatic birth because his newborn screening was normal)

Quoting Ailey+Lennon+Renner's Mom:" but just slightly off levels can cause it. my son was diagnosed at 4 weeks old, and we were told that ... [snip!] ... try to wean him off when he hits 3 (his might have been due to his traumatic birth because his newborn screening was normal)"

I understand. DD had a negative NB screening and somewhere between NB and 1 yr old her levels went off.

This new diagnosis of AHO is kind of scary... I mean the long term aspect there could be a lot of issues when she hits puberty and goes to have children...

Quoting Meg ♥:" I understand. DD had a negative NB screening and somewhere between NB and 1 yr old her levels went off. ... [snip!] ... kind of scary... I mean the long term aspect there could be a lot of issues when she hits puberty and goes to have children..."

his was only caught at 4 weeks because my pedi got some bloodwork redrawn because of all the transfusions he had when he had his first surgery at 10 days old.. and we caught it then. his was WAYYY off tho. his TSH was 555, redraw of it was 485 (they thougth for sure the first one was a lab error). he wasnt showing any outward symptoms tho at all. but it stabalized super quick and hes still only on 25mcgs his tsh stays between 1.8-2.4 and his t4 was 1.4 last time

DD went on Monday for her genetic testing, calcium, Phosphorus, Thyroid and PTH.

Genetic testing didn't come back yet, 4-6 weeks since it's sent to John Hopkins lab in MD.

BUT her Calcium, Phosphorous, Thyroid and PTH all came back in normal ranges. YAY! I'm so thankful all the meds are working to keep everything balanced.

Quoting Meg ♥:" DD went on Monday for her genetic testing, calcium, Phosphorus, Thyroid and PTH. Genetic testing didn't ... [snip!] ... Thyroid and PTH all came back in normal ranges. YAY! I'm so thankful all the meds are working to keep everything balanced. "

Woohoo!! Continued prayers for everything else <3

Genetic report back in.... next Wednesday we find out what we're looking at.