What is tay sachs disorder?

If you’re looking for a disease that can make your veins pop out with how obscene it gets, then look no further because Tay Sachs Disease has come to save the day! You know what they say: “underpromise and overdeliver”. And boy oh boy, does Tay Sachs over deliver. It’s like the gift that keeps on giving… but without any actual gifts or anything positive really. As elusive as a Sasquatch and overbearing as an in-law during Thanksgiving dinner, this illness sneaks up on babies and ruins their lives forever.

Breakdown

The essence of this disorder lies in DNA Hexosaminidase A (Hex-A) deficiency (because why not add another word to the mix?). What does that mean? Basically one tiny little misspelling (mutation) in the HEXA gene chromosome 15 leads to insufficient production of Hex-A enzyme which ends up causing fat build-ups in organs (namely brains). This accumulation creates nerve damage resulting inevitably in mental breakdowns, blindness and paralysis among other fun things(just listing “fun” side effects just for LOLs, don’t worry about it!).

How is it diagnosed?

Unfortunately at present times only prenatal diagnosis can be done through amniocentesis testing to see whether or not the baby has got what seems like lottery luck – winning at being born with Tay-Sachs (Audible gasps intensify).

Why did I get so unlucky Dr. Shea Butter Baby!

This wonderful mutation happens when both parents carry faulty HEX A genes (who knew having kids isn’t all sunshine and rainbows huh?), giving their offspring a probability of gaining double doses from each parent resulting into early onslaughts of genetic imbalance.

Symptoms

It often starts presenting itself around 3-6 months after birth when supposedly healthy infants start showing decline/ deterioration rates quickly thereafter(good times guaranteed!).
Symptoms include but are not limited to:

  • Weakness: body weakens and is unable to support movements.
  • Extreme startle responses e.g, noise or sudden movement causes involuntary convulsions
  • Loss of visual faculties- kids eventually lose their sight (just when you think life can’t get any worse right?)
  • Cognitive development stunts resulting in intellectual disability- sadly the babies’ brains never advance beyond that of a six month old (sighs)

Is there a cure?

Currently, I’m sorry to say this folks (if anyone reading actually has Tay Sachs Disease) but unfortunately, there isn’t.

#### Potential treatment

However,to be fair we should add that some attempts have notionally been made by researchers exploring gene therapy however challenges from identifying an effective delivery method without causing additional damage has been hampering such efforts for now.(Gosh darn it science – You had one job!)

Demographics Affected

As mentioned earlier,the mutation breeds havoc amongst newly born infants commonly associated with people of Jewish descent around 1 out of every 30 being carriers(Hey good news guys its either cancer or miscarriages for us winks, well how bad could THAT possibly be??). The odds don’t exactly go down if both partners happen to belong under the same ethnic group.

Other demographics potentially affected?

Well…as long as human souls intertwine physically (no innuendos here ma’am/ sir…move along), then no-one is ever truly safe. However based on symptoms presentation and statistical data.. individuals following French Canadian / Cajun , Irish and Louisiana Creole heritage seem to display common occurrence rates among themselves.

Prevalence in Africa?

Periodic increase occurrences still make tracking difficult because often cases aren’t reported or documented making tracing more cumbersome task.(Joining other diseases which affect Africans but seemingly collect cover from the international community).

Conclusion

As is characteristic of many rare and incurable diseases, Tay Sachs remains one disease we continue to strive in finding ways to manage if curing isn’t on the immediate horizon (Don’t give up scientists, showing what that brilliant brain of yours can do!).

Hopefully with additional efforts future sufferers wont have to worry so much about succumbing before they get a chance at life. So while you may initially be overwhelmed just by hearing about it there’s comfort in knowledge about possible preventative measures through genetic counselling sessions.

But without knowledge how will people like US be able move forward towards a more healthier genetic future? Educate yourselves! Know your health status ratios! Thats,”The Power of Knowledge” TO DA CHOPPA!!!(Arnold Swazenegger would approve)

Random Posts