DNA testing in the paper on young boy

[Gcart]

Did anyone read about a little lad. Lack of development etc taking 4 1/2 years to diagnose the problem . Had several tests done , some invasive when they did a gene test THRA gene mutation meaning not getting the signal about thyroid hormone status. ( I think , that is my understanding )

Surely the complete thyroid blood test including T3 would have been enough to help him sooner . Article goes on the explain thyroxine now being given bringing about a ‘cure’

[Gcart]

Just realised my gene test I do with blue horizon. I have the same double red on that gene THRA ! Surely that will help with my need for adding T3 .

Plus I will show the endo I hope to see soon! This mutation surely isn’t RARE . I bet it’s not uncommon. Shows up all their testing to be flawed unless the genetics are taken into account .

[Larai]

Thanks for the article.. Glad they found it, and the boy is being treated, and improving!~ I was lucky I guess in some ways, they were giving my mother thyroid supplement when she was pregnant with me.. and the theory is I didn't develop a thyroid gland because she over compensated..

When it was discovered something was wrong, my head had already started being misshaped .. My tongue got very thick I couldn't eat or cry... the doc's called it cretinism.. I almost died.. there were massive amounts of tests done, to determine if I had the gland and it was just non functional, or it was located in my body somewhere else..

I was told by doctors my entire life, that I am the baby that made it mandatory in 1961 (in the US anyway) for doctors to check for thyroid at birth!.. woohoo 15 minutes of fame...chuckles..

I spent from then on being in and out of the hospital til I hit my "tweens".. it took the docs the better part of my first year of life trying to determine what the problem was..

Congenital hypothyroidism/Central Hypothyroid...

Living with this my entire life, knowing there would be adjustments to my dose as I went through varying parts of life, puberty, young adulthood.. and finally post menopausal.. and STILL have issues trying to get regulated.. I was dropped from .150 mcg, to .107 mcg, very abruptly... My body and brain are still trying to reconcile the changes, As it was a VERY abrupt drop in dose..

I hope this posts finds everyone well today!! Biggest of hugs! ♥

[vocalEK in reply to Larai]

I was dropped from .150 mcg, to .107 mcg, very abruptly...

Why in the world would he do that to you??? I'm assuming a male doctor, but I guess there are plenty of female arses, too.

[Larai in reply to vocalEK]

Hi, Thank you for replying vocal, I don't know why he did this so quickly.. or so much at once, I have been near tears, I was soo happy on my .150 weight was stablizing.. mood improved made it through breast cancer, which honestly I have been so depressed this past month.. I know I've stated in my posts it's about choice, as far as how, in what mood I wake up in.. this past almost 2 months.. I have been depressed, and if I'd of gotten my cancer diagnosis right now, I'm not sure I could have been as positive or up beat...I feel like crying more often than not daily, I find myself staring off into space... "1000 yard stare into no man's land a friend of mine called it" He's a combat vet..

My Endo, told me that he'd go by how I felt.. But he did the go by the numbers... I'll be posting another letter to him.. about ticking the dose up a bit.. everything he told me seems ass backwards to me.. All of it, I have all the symptoms but a very few that indicate I am under medicated.. Not losing hair, not gaining weight..May be switching endos with a quickness!

[vocalEK in reply to Larai]

While reading your response I was thinking of a few suggestions for you, but by the time I finished I noted that you came to those by yourself. You consulted him in the first place to improve your health, and with this reduction you are getting worse. You didn't have major depression until he MIStreated you. So yes write to him clearly specifying the health impact of this change and ask what he intends to do to make you better.

And if his response is unsatisfactory it is time for a different dictor.

[Angel_of_the_North]

It's as though things doctors knew 100 years ago have just been forgotten- Why on earth would you need a DNA test to diagnose hypo?

[Gcart]

You are right about knowledge lost .

What could be the reason. Do they/ we learn nothing !

[serenfach]

Facinating Larai - thank you for your help even if you were a bit too young to know! I read somewhere that in the USA they have stopped using Iodine on new borns because of the risk to the thyroid. I think they still use it here in Wales.

[dtate2016]

"The things Dr.s knew 100 years ago.." is lost because the "practice" of healing has been discontinued in favor of what I call "paint by numbers". It's all about the numbers! How old are you? How much do you weigh? How tall are you? How long have you been ill? From there, "let me consult my guidelines / matrix, ah yes, here it is....5 mg of xyz, and we will see you next time!" Seriously, I once had a Dr. say to me, after some similar above drivvle - "You always have something to say it seems, so let me hear it now!" I am not even exaggerating. (A neurologist in the US) It's as if anything the patient has to say (I don't, like symtoms that continue?) is so much expendable nonsense. The art and practice of healing is very rare.