I Saw That on House! An Inspiring Mom’s Rare Disease Story

w an withIt’s kind of a badge of honor when a rare disease gets airtime on an internationally-loved television show. And maybe the doctors at Canada’s McGill University Health Centre (MUHC) spent their off hours watching the eighth episode of the seventh season of TV’s House.

That’s the episode where the irascible Dr. House finally diagnoses the intermediate form of cryopyrin-associated periodic syndrome (CAPS), most commonly known at Muckle-Wells.

Except, on the show, the patient dies.

Luckily, the doctor’s at MUHC have had very different results. And for that, one mother and child are eternally grateful.

Malinda Zervakos was dying when the doctors first met her. Her fighting spirit had carried her through a life filled with the physical and emotional pain only an undiagnosed condition can cause.

From the time she was little, classmates teased her because she was different. Chronic hives often covered her skin, she experienced problems with her eyes and hearing. Migraines regularly interrupted her schooling.

Doctors were stumped.

Some told her she was crazy, that the debilitating symptoms she experiences were all in her head. Others decided to treat her symptoms as if they were caused by rheumatoid arthritis or lupus—though she didn’t respond well to that approach.

But despite all of her significant health problems, Malinda became an intensive care nurse, married and had two children. Though her spirit was strong, however, her body kept deteriorating. By the time she was admitted to MUHC, Malinda weighed just 89 pounds and was severely malnourished. She had to be fed intravenously, a time-consuming process called total parenteral nutrition (TPN). Because Malinda was so sick, she initially required TPN 18 hours a day, seven days a week in order to get well.

People with CAPS-related diseases have a genetic defect in a protein called cryopyrin, which plays a role in inflammation and the natural cell death cycle called apoptosis.

With untreated Muckle-Wells syndrome, people often develop amyloidosis. Amyloid is a protein that deposits in certain organs—most commonly the kidney, but amyloid can deposit in the gut, skin and heart. Eventually amyloid causes a loss of function, especially of the kidneys.

Luckily for Malinda, the doctors at MUHC decided to start from scratch in order to unravel the mystery of her health.

That allowed the physicians to look at her case with fresh eyes and soon the doctors recognized that Malinda’s symptoms could be Muckle-Wells.

When they began to treating her under a Muckle-Wells protocol, Malinda began to improve. Today, she receives TPN only five days a week.

One of the first things Malinda and her husband did after learning that the disease was genetic, was get their children tested. Their son, Liam, was found to have the defective gene and is now being treated for Muckle-Wells. His early diagnosis and treatment means that Liam won’t have to suffer the years of ridicule and deteriorating health his mother survived.

And who knows? Maybe one day Liam will be the star of a new TV show focusing on rare diseases!


EmpatheticBadass

EmpatheticBadass

EmpatheticBadass is a young-at-heart writer from Ohio (Go, Bobcats & The Marching 110!)) who is passionate about being a voice for the patient perspective.

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