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More about what it’s like to be diagnosed/living with Wilson’s disease 

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More about what it’s like to be diagnosed/living with Wilson’s disease 

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https://www.wilsontherapeutics.com/en/life-with-wilson-disease

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What it’s like to live with Wilson’s disease 

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What it’s like to live with Wilson’s disease 

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Stefanie – Diagnosed with Wilson Disease at age 22:
“Living with a chronic disease takes some effort and you need to remember to take your medication. You need to remember to do your testing, and set aside time to do your testing. You need to understand that you’re going to be living with this.”

Ron – Diagnosed with Wilson Disease at age 6:
“To treat and manage my disease, I think it takes due diligence. It’s making sure that you have your medication, your vitamins and you watch your diet. As long as you maintain that level of discipline, you’re going to live a very happy and fulfilled life. Wilson Disease becomes a part of you, but it doesn’t define what you are.”

“What I like to tell the world about Wilson Disease is that it’s there and that most people don’t know about it. If you have it, don’t let it define you.”

Nicole – Diagnosed with Wilson Disease at age 25:
“The best advice I can give to someone with Wilson Disease is to be optimistic. Never give up. Hopefully, you have people around you that are there to support you. Just having a good support system is the best. Just have that smile on your face, because I believe smiles are contagious, and if you’re smiling there will be other people smiling back at you. Look at the glass half full because there is hope. Fortunately, with this disease, there’s treatment.”

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*NIDDK (national institutes of health)

*MedlinePlus

*Wilson’s disease association

*Genetic home reference (U.S national library of medicine)

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*kidney problems
* blood problems
*Kayser-fleischer ring

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Neurological symptoms:

*clumsiness
*problem with speech
*trembling
*Depression
*mood swings
*difficulty walking
*anxiety
*difficulty with school work
*difficuly with speak

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Drugs used for this mutation are penicillamine Tridentine, and Zinc which binds with the copper so it can be easily removed by the body. Some patients may require liver transplants if they have a severely damaged liver.

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ATP7B is a gene in chromosome 13 which provides  instructions for making a copper transporting protein which is called ATPASE2. ATPASE2 transports copper from the liver to other parts of the body to maintain normal cell functions.

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Symptoms related to liver:
*fatigue
*loss of appetite
*swelling in abdomen
*easy bruising
*jaundice (when skin or the white part of the eye turns yellow)

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It’s found in both women and men but about 1 for every 100 people carrry it. About 1 for every 30,000 people actually develop it. This mutation starts showing develop meant in 5-45 but, it has been said that it also starts developing in ages as old as 71 years olds. It’s also more common to show during teen years and such. Children and young adults typically inherit liver disease from Wilson’s disease which in older people it is typical not found.

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This condition is due to mutation in the Wilson disease protein gene or the the (ATP7B) that has been found in chromosome 13. Wilson’s is a autosomal recessive genetic disorder, in order to get it you must inherit one abnormal copy of ATP7B gene from both parents.

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Wilson Deasise is a Rae genetic condition that prevents a persons body from getting ride of extra copper. Copper builds up in places that the brain, eyes, liver and other organs. When extra copper isn’t discarded over time it can lead to organ damage that can cause serious damage and death.