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San Diego woman with rare disease receives first breakthrough treatment at UCSD

Nancy Kim has six family members that died from a rare protein disorder, now she's taking injections to slow down her disease.

SAN DIEGO — A local nursing school graduate is one of the first in the country to be treated with a new medication used to fight a rare, incurable protein disorder. 

In July, University of California San Diego Health was the first to offer the therapy used to treat Hereditary Transthyretin Amyloidosis, which is often fatal.

“I had severe pain in my wrist all the way my arm through my shoulder. Some days I wouldn't be able to lift my arm, it was so painful,” said Nancy Kim.

When the mother was 25 years old, she started feeling severe nerve pain and knew it wasn't good.

“I didn't feel like getting tested because I thought what is the use of getting tested if there is no treatment,” said Kim.

Treatment for Hereditary Transthyretin Amyloidosis known as HATTR, is a protein disorder that builds up on vital organs leading to organ failure.

“Six of my uncles have passed away, one of my aunts,” said Kim. Her uncle and father also have the disorder.

In 2018, Kim tested for the disorder when she was only 35-years-old. “To no surprise, I had the gene mutation and I had amyloidosis,” said Kim.

HATTR is so rare only, only 50,000 people in the world have the disorder.

Since the disorder has 30 different conditions it can be difficult to diagnose. Kim suffers from poly neuropathy which attacks her nerve system.

“Seeing the disease and progression in my dad and how it has affected him, it is a constant worry,” said Kim.

Her father had to have a heart transplant, which is how it used to be treated 10 years ago.

Kim was originally treated with lengthy transfusions every three weeks.

“I didn't want to revolve my life around appointments, doctors,” said Kim I wanted to be someone with the diagnosis but no longer having to schedule my life around this treatment.”

Kim's UC San Diego cardiologist Dr. Marcus Urey came to her with a breakthrough medication to treat her HATTR poly neuropathy.

They were the first in the country to offer Amvuttra, an injection that's only required every three months. 

“Our goal is to try to reverse some of the disease and have improvement in their, in the disease burden,” said Dr. Urey.

Amvuttra isn't cheap, $400,000 dollars per year but Dr. Urey says insurance hasn't denied his patients. Clinical trials showed progress in 48% of patients.

"Many of the amyloidosis are not ones that we can cure, but we can control and at least improve or hopefully stabilize their quality of life,” said Urey.

With her dog Coco close by to soothe her, Kim says this other therapy is giving her hope.

“I'm really hopefully for the future and other patients,” said Kim

Nancy hopes her story will inspire others and encourage people to get screened if they believe they have it or someone in their family may have it.

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