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woman with huntington's chorea (part 2 of 2)

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Uploaded by on Apr 14, 2008

this is my wife niki she has huntington's chorea this is a video i made for our 2 yearold twin girls hannah and savannah to remember there mom as they get older.


Huntington's disease (HD), known historically as Huntington's chorea and chorea maior, is a rare inherited neurological disorder affecting up to approximately 1 person per 10,000 people of Western European descent and 1 per 1,000,000 of Asian and African descent. It takes its name from the New York physician George Huntington who described it precisely in 1872 in his first medical paper. HD has been heavily researched in the last few decades and it was one of the first inherited genetic disorders for which an accurate test could be performed.
Huntington's disease is caused by a trinucleotide repeat expansion in the gene coding for Huntingtin protein (Htt) and is one of several polyglutamine diseases. This expansion produces an altered form of the Htt protein, mutant Huntingtin (mHtt), which results in neuronal cell death in select areas of the brain. Huntington's disease itself isn't a terminal illness, but complications caused by it reduce life expectancy.
Huntington's disease's most obvious symptoms are abnormal body movements called chorea and a lack of coordination, but it also affects a number of mental abilities and some aspects of behaviour. Physical symptoms occur in a large range of ages, with a mean occurrence in a person's late forties/early fifties. If the age of onset is below 20 years then it is known as Juvenile HD. As there is currently no proven cure, symptoms are managed with various medications and care methods. (more)

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  • In addition to funding research for a cure, the government and insurance companies should provide free In-Vitro Fertilization (IVF) with Pre-Genetic Diagnosis (PGD) testing to exclude embryos with the HD gene to anyone at-risk for HD who wants it. Even those who don't want to know if they have HD can have kids that will never get the disease or be able to pass on the gene. HD could be eradicated in one generation, saving the government billions in future long term healthcare for HD patients.

  • Schlim das wieder zu sehen, meine Freundin hat diese Krankheit auch, sie ist jetzt aber im Pflegeheim. Alles was man hier sieht habe ich so erlebt, die Bewegungen in spastischer Form, das zwanghafte Schlucken usw., alles wirklich schlimm. Es tut voll weh, habe gerade Tränen in den Augen.

  • thanks for sharing. I appriciate you giving me the opportunity to put a human face on this life changing disease.

  • Life really sucks some times with cards we get dealt. Makes you wonder if there is a god..  because why is he so cruel to decent people. Anyway all the best Billy you seem like a great dad :)

  • Life really sucks some times with cards we get dealt. Makes you wonder if there is a god.. because why is he so cruel to decent people. Anyway all the best Billy you seem like a great dad :)

  • Thats so sad to watch, it must be even harder for you's. I hope the little ones done have it as well. God bless you and your family.

  • Why should she be in a nursing home?

  • Thank you...for sharing something so difficult. She is lovely..and it is so unfair..such a difficult journey. She is lucky to have you in her life and that you have not given up on her..Thank you.

  • Are the lil girls tested yet?

  • Like, each & every day, she attains an unprecedented level of deterioration. Mercifully, she is more than likely unaware of that. So sad, babes!

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