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Xenju
June 3rd, 2010, 08:07 PM
A certain neurological disease runs through my family. It's called Huntingtons' Disease. It's a dominent allele, and it all begins with a single mutation of a single gene on the short arm of Chromosome 4.

What it means is that as time goes on... A person who carries this disease will first gradually start showing twiches, that become increasingly severe. This is followed by a stiffness. It becomes difficult to eat. Simple movements become difficult, and precise movements become impossible. Muscles decrease, and general weakness sets in. Pneumonia is a major killer (2nd most common in HD patients) because of the reduced ability to eat, so reduced immune system, and body fat.
Then, cognitive symtoms set it... IQ drops, never below 70, but less then 100 in many cases. Cognitive processes slow down, to the point normal jobs aren't realistically possible.
Afterwards, psychological things set it. Depression occurs in most cases. Attempted suicides are present in over 25% of sufferers, with 8% of sufferers succeeding. Luckily, for most, these symtoms, and the diseases progression don't begin until their 30's - 50's, and generally takes 10-15 years to reach fatality point.
Probably so high because more likely than not, the person will have seen one of their parents go through it. Like me. My mother's had the disease for around 16 years now since the initial symtoms.
All the stuff I know about the disease doesn't help one bit... I know it right down to the gene's position at 4p16.3, but it just makes it feel more hopeless...
I found a post in this forum about it from Nov 2008 saying they were close to a cure. Nope. Progress has been made about how it works. A cures probably many years away.

Why's this here....? I'm only 18, but I've begun twitching... It's the first sign of the disease.... I pray to a God I don't even believe in that it's unrealated but the reality is that it probably is... 7% of carriers are called "Juvenile HD" sufferers. Meaning it hits them young.
Wonder if I'll just join that 8%... If it does progress... I'm pretty sure I will.
It feels pointless... J. HD progresses faster, taking life exectency to about 10 years..... 28.... And what do I have to look fucking forwards to? Humiliating disability...? Being unable to feed myself? Or not being able to live alone?
IQ dropping from 140 to <100, essentially making the next 4 years I'll spend in university pointless since I'll have reached the cognitive part before I even finish.
I'm not alone... It's both a blessing and a curse... All signs are that the boyfriend will be with me throughout this... What'd be fair...? To drag him through, make him see me suffer for years, and see me at my ultimate worse. Him not being able to leave from the love/guilt, even if I've told him too. Or just ending it in the most dignified way possible...?
I.... Just wish this wouldn't fucking happen...? Why me? Why not that stupid noisy prick next-door? Why not someone who deserves it?
I just give up...

Sorry, just had to let this all out....

Sith Lord 13
June 4th, 2010, 12:08 AM
Let it out. Never bottle up your stress.

Have you been screened for it? If not, don't get ahead of yourself. Just go get checked. Trembling can come from a lot of things. I shake so bad I had to give up my dream of being a plastic surgeon. It comes from some neurological disorder on my mother's side. It doesn't have to be Huntington's.

Look, I know what it's like to be given a potential death sentence. I was diagnosed with PSC. Means my liver should shut down within the next 20 years. No transplant = dead. Transplant might save me, might just buy me a few years. Until then, I can look forward to itching and exhaustion, to the point where I can sleep for a week straight. Eventually my skin will turn yellow too.

But you can't give up. You have to keep fighting.