BBC Breakfast Genome Testing - Owen late diagnosis Thyroid issues

[TiggerMe]

Take a look, about 7.22am, likely repeated an hour later?

Poor little lad finally diagnosed

Hopefully they will start paying more attention to our genetic results which are so often swept aside 🙏

[Hedgeree]

Hi Eeyore100,

Yes I only just saw that as it was repeated. Very interesting though they only very briefly mentioned that the little boy had been found to have a thyroid condition.

I wonder what his thyroid condition was? Previous to his diagnosis they said he was barely able to walk.

Thanks for posting.

[humanbean in reply to Hedgeree]

I'm totally guessing that he has central hypothyroidism and can't produce enough TSH, so had far too little T4 and T3.

Or possibly he has a very small thyroid or no thyroid and an inability to produce enough TSH as well.

The child is probably taking Levothyroxine - they did say it only cost a few pence a day to treat him.

[Hedgeree in reply to humanbean]

Hi humanbean,

The little boy was found to have resistance to thyroid hormone due to defective thyroid receptor Alpha.

[humanbean]

Link to BBC Breakfast :

bbc.co.uk/iplayer/episode/m...

It will only be available until tomorrow 14/12/2022.

[helvella Administrator]

They'll only look at treatable conditions.

Which (obviously) makes us all ask how they decide what is treatable? And what constitutes decent and adequate treatment?

[Hedgeree]

I just did a brief search and found this;

northnorfolknews.co.uk/news...

He was found to have resistance to thyroid hormone due to defective thyroid receptor Alpha.

The article states that only 6 people in the UK are diagnosed with this condition.