RARECONNECT
Hyperlipidaemia Type1
Written by rayaad, published 26 days ago.
Hi Everyone
Just wanted to share my story. I am 34 years old. I was diagnosed with LPLD (Hyperlipidaemia Type1) when i was 3 years old after being admitted over 10 times to the hospital.
My parents controlled my diet till i was 8 years old but then i demanded pocket money for schools instead of having ready meals from home. They gave me the money and at the same time prepraed my low fat meal however I spent my money on Junk food and ended up being admitted again to the hospital and the straggle continued till i was mature enough to understand that I am hurting my self.
Recently I heard about Glybera and how it can cure LPLD by fixing the LPL gene which is responsible of producing the LP lipase and can cure me.
So i did a gene test to LPL gene few months ago and i was surprised by the result that there is nothing wrong with it and my liver produce Lipoprotein lipase.
So i did a gene test to LPL gene few months ago and i was surprised by the result that there is nothing wrong with it and my liver produce Lipoprotein lipase.
The next step was to screen all the genes which is related to hyperlipidaemia and i Did it 2 months ago. The defect was in APOC-2 gene which is responsible of producing Apolipoprotein C2 whihc means my body can not produce Apolipoprotein C2.
I told my doctor that this is good news they diagnosed me wrong when I was 3 years old. Unfortunately the same diagnosis whihc is Hyperlipdaemia Type1 since the Apolipoprotein C2 is needed to ACTIVATE the Lipoprotein lipase.
In conclusion my body produce Lipoprotein lipase however it is not active which means it can help in reducing TGL unless MY BODY PRODUCE Apolipoprotein C2 as well.
Sadly , the new gene therapy (Glybera) can not help me however i am used to my diet in fact i hate oily food but the problem is that i got sweet tooth :)
Gabir
Written by rayaad, published 26 days ago.