Conyers woman’s rare disease, upbeat spirit made her memorable patient

Mandy Young looks through a scrapbook at the RE/MAX office where she works in Covington. She has a rare disease that caused strokes, all types of illnesses and forced her to have a leg amputated at age 9. She's been in the hospital more than 100 times and devotes some of her time to giving back to children's hospitals. She's also a motivational speaker. Phil Skinner, special to The Atlanta Journal-Constitution
Mandy Young looks through a scrapbook at the RE/MAX office where she works in Covington. She has a rare disease that caused strokes, all types of illnesses and forced her to have a leg amputated at age 9. She's been in the hospital more than 100 times and devotes some of her time to giving back to children's hospitals. She's also a motivational speaker. Phil Skinner, special to The Atlanta Journal-Constitution

Credit: Phil Skinner

Credit: Phil Skinner

Doctors say Mandy Young of Conyers is one of a kind.

In 2004, the now 39-year-old became the first person in the world to be diagnosed with an inherited autoimmune disease known as IRAK-4 deficiency.

For more than 20 years, Mandy and her family went from doctor to doctor, hoping to at least have a name to put to the mysterious illness that upended her life in early childhood. The illness that landed her in the hospital more than 100 times. And the one that forced doctors to amputate her left leg and hip two weeks before her ninth birthday.

Through it all, this woman with the never-met-a-stranger attitude has kept positive and kept persevering.

“Mandy is this incredible example of someone who is phenomenally brave who came to the National Institutes of Health and said: ‘I have a problem',” said John I. Gallin, an NIH internist, researcher, and administrator who spearheaded the efforts that ultimately cracked Mandy’s case.

Mandy was born a healthy nine pounds. But at nine months old, she began having life-threatening infections, including the first of three cases of spinal meningitis. Those led to or were followed by a paralyzing stroke, seizures, strep throat that turned into scarlet fever, and so many other conditions that she considered the hospital her second home.

Nine times, Mandy’s parents were told that their daughter was at death’s door and that their final goodbyes should be said.

“Nobody could figure out why I was getting all these infections,” Mandy recalls.

All doctors knew was that her white blood cell count was low and that unlike most people, she did not show the typical, early-warning signs of infection – fever, redness, or swelling.

The search for answers took Mandy to Houston, Texas, where she was examined by the doctors who treated the late David Phillip Vetter, sometimes referred to as “the Bubble Boy.” Vetter had an inherited disease that dramatically weakened his immune system and lived in a sterile environment that resembled a giant bubble.

Still no help.

Finally, after Mandy lost her leg and hip in 1990 to a rare double infection of gas gangrene and clostridia septicemia, her mother in desperation turned to the National Institutes of Health in Bethesda, Maryland. There, Gallin said he promised Mandy: “We’ll work with you as long as it takes to figure out what you have, and then we’ll help take care of you.”

For the next 14 years, Mandy said she felt like a human lab rat.

“I went through testing that probably no living thing should have to go through,” she said. “But it’s something I do not regret a day of or would change because, honestly, it’s the best place on earth.”

Portrait of Mandy Young looks at the RE/MAX office where she works in Covington. She has a rare disease that caused strokes, all types of illnesses and forced her to have a leg amputated at age 9. Phil Skinner, special to The Atlanta Journal-Constitution
Portrait of Mandy Young looks at the RE/MAX office where she works in Covington. She has a rare disease that caused strokes, all types of illnesses and forced her to have a leg amputated at age 9. Phil Skinner, special to The Atlanta Journal-Constitution

Credit: Phil Skinner

Credit: Phil Skinner

When the breakthrough came in 2004 and Mandy finally learned the name of her disease, “we called a homerun,” Gallin said.

Although he has discovered four or five other new diseases during his career, “this is one that excited the whole community of scientists and physicians.”

The reason: they saw it as a potential pathway for new drugs that might help quiet down inflammation in patients who are exactly the opposite of Mandy. Those people have too much inflammation with common diseases, such as arthritis and lupus, Gallin said.

And the best part for Mandy – and 48 others worldwide who have since been diagnosed with IRAK-4 (protein) deficiency – is there is evidence that those life-threatening infections become less severe and less frequent with age, said Christa Zerbe, director of clinical patient services for the Laboratory of Clinical Immunology and Microbiology at the NIH and Mandy’s primary care doctor since 2012.

Other parts of the immune system appear to be overriding the protein-deficient part that, in childhood, failed to trigger those early warnings of infection, Zerbe said.

That has been the case for Mandy, although she was hospitalized for six days on oxygen earlier this year for treatment of COVID-19. She also has some mobility issues related to walking on crutches, rather than with a prosthesis, her doctors said.

“Being in the room with her, I can’t describe her exuberance,” Zerbe said. “It’s spectacular.”

Mandy has become a champion for research and education on rare diseases and a motivational speaker, mostly in the faith-based arena. She is in her 19th year with RE/MAX Agents Realty in Conyers, where she devotes time to the office’s charitable endeavors, including helping children’s hospitals.

Mandy leans on the Bible for inspiration, specifically Jeremiah 29:11: “For I know the plans I have for you, declares the Lord, plans to prosper you and not to harm you, plans to give you hope and a future.”

She said God has made clear that he wants her to share her story of hope.

“There are rainbows in every trial,” Mandy said. “I always try to focus on the rainbows.”

WHAT INSPIRES MANDY YOUNG?

The promise: John I. Gallin, internist, chief scientific officer, and associate director for clinical research at the National Institutes of Health, met Mandy in 1990 and told her: “We’ll work with you as long as it takes to figure out what you have and then we’ll help take care of you.”

The dream: Since childhood, Mandy has wanted to be able to put a name to the disease that made her so sick for so many years and led to the amputation of her left leg and hip just before her ninth birthday. In May 2004, she received the diagnosis. She has a rare disease called IRAK-4 deficiency that affects the immune system. One of the worst things about it is the patient does not have typical warning signs, such as fever, until an infection is in an advanced stage.

The stats: Mandy was the first person to be diagnosed with IRAK-4 deficiency. Now, the medical community has identified 48 other people with the disease, worldwide.

Her thoughts: “There are rainbows in every trial. I focus on the rainbows.”

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