Interesting article on vitamin d3

[Brunneria]

Oh @Linagirl wow! You must be reeling. So sorry to hear this. When do you discover which variant you have?

And does this mean that the RH you experience is a result of this condition? Or is it a different thing?
Do you have any good links on it, save you having to explain.
I really feel for you.

Hug!

(And yes, thank you, am fine!)

 

[Lamont D]

Hi @Linagirl

Maybe now you can sort out what is going on.
I hope you can explain the condition more as I'm always interested in rare conditions similar to RH.
I'm sure to a certain degree we RH ers are carb intolerant to some extent and I've found that the description is usually easier than trying to explain to people how RH does to our bodies.
I've read the line that is a bit anxious for you that carb intolerance can cause neural problems. Well, RH does cause some nasty neurological problems if we don't have it under control. I know I went through my own personal hypo hell.
There is a medical consensus that lack of carbs can cause this, were, if you read through our problems, it's worse if you do.
I would really talk to your endocrinologist about how to proceed.
Keep us informed.

 

[Kaz261]

So sorry to hear this Emma. Must feel like another blow .

I've just read a little about it but must say it sounds awfully complicated and confusing.

What lead your Doctor to test for it? It sounds as though it is very rare.

I hope you get some answers soon.

Sending you hugs.

 

[lindisfel]

I'm doing good thanks. Are you ok? I have found out today that I have a genetically inherited condition in my genome which is pmm2 -cdg

It is pretty scary so I'm hoping I don't have it properly as it can be fatal but I have the variant so it might be that I am a carrier.

It is a congenital disorder of glycosylation and it's something to do with sugar and protein or sometimes known as carbohydrate intolerance but can lead to neurological problems. I spoke to my consultants secretary today and I am sending my results to him.

Hope you are ok xx

Hi Lina,
I am so sorry to hear you have a potentially complex condition. No doubt you are in a very good area to get the latest and best treatment. I hope it is less of a problem than you think and the problem becomes the key to getting blood glucose stability.
God bless you.
warm regards
Derek

 

[Linagirl]

Thank you all. I'm not too upset about it as I'm not even sure I have the condition yet but I have a gene variance which shows it is in my genome. I have printed the results and sent them to the consultant and I'm sure he will see me soon. I did a genome test through 23andnme and it came up through this. The good news is no predisposition to Alzheimer's Parkinson's or breast/ovarian cancer so it's not all bad. I just want to understand what this means for me and my family in terms of being careful not to pass it through the generations.

Thanks for all your wArm wishes.

Will see what links I can find xx

 

[Linagirl]

https://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation

Having read this I didn't have these issues as a child so I don't know. As hoped I may be just a carrier

 

[Linagirl]

This one is better

http://rarediseases.org/rare-diseases/pmm2-cdg/