Caught in a Medical Mystery

 

“Your body is further advanced than medicine” and “tests to define your problem haven’t been invented yet” were the troubling words Mandy* and her parents heard for 22 years. Finally in May of 2003, renowned scientists from all over the world met with Mandy and her family at the National Institutes of Health (NIH) to give a name to her disease: inter leukin-1 receptor-associated kinase 4 (IRAK 4).

* Her real name, used with permission.

Troubles at a Young Age

Mandy’s troubles began at a young age. When she was nine months old, she got Spinal Meningitis. Her chances of survival were small. During her two week hospitalization, she suffered numerous seizures and a stroke that paralyzed the left side of her body. The doctors treated her with massive doses of antibiotics and phenobarbital.

The doctors likened her health conditions to David Vetter, the young boy in Houston, Texas, who lived in a bubble because he was born without an immune system. Between the ages of two and four, Mandy was treated like David. She was put in complete isolation. Drawing her blood twice a week to study her immune system was the only human contact (outside of her family) she had during those two years.

After traveling to Houston to be studied by David’s doctors, they found they were no closer to an answer. But those doctors did feel Mandy should be taken out of isolation and off her preventative medications to see how her body would react in the “real world.”

The doctors found a mass in her stomach when she was just three years old. She was given two weeks to live. She was treated with an experimental antibiotic. She also endured Spinal Meningitis two additional times, a case of strep throat that developed into Scarlet fever, and a single fever blister that turned into hundreds of fever blisters that in turn spread into her lungs. All this before she was four years old.

Then when she was eight, Mandy got a small cut on her left leg. By the next morning, it was infected. A week later, the doctor released her from the hospital to go home because it was healing. But her mom had a gut feeling that something still wasn’t right. At home, Mandy began having excruciating pain in the back of her leg. Her leg turned green – blue – yellow and purple.

Mandy and her parents immediately returned to the hospital, knowing this was far more serious than an infected cut. Her vital signs were fine despite the serious condition of her leg.

Unexpected Options

Uncomfortable from the pain in her leg, Mandy begged the nurses to let her take a hot bath to relax. With the doctors approval, Mandy slid into the hot water. Almost immediately, black blisters popped up all over her left leg. She was quickly taken out of the bath and moved to a hyperbaric chamber, which pumped pure oxygen into her and slowed the infection. Once the doctors could examine her, they diagnosed her infection as Clostridia Septicemia secondary to gas gangrene. This combination of infections had not been seen since World War II.

Mandy’s parents were given two unexpected options: amputate her leg, giving her a 3% chance of living, or let her die.

With her parents’ consent, the doctors amputated her left hip and leg in an attempt to stop the infection from spreading. During the surgery, her lungs collapsed, her kidneys failed, and her heart stopped beating several times. She woke from a month long coma without her left leg. Her parents could only comfort Mandy with this difficult news by telling her the doctors had to amputate her leg to save her life.

Human Lab Rat

Just months after losing her leg, the NIH agreed to accept Mandy’s case even though their requirements stated a patient’s disease had to be one they were currently studying. Because of the uniqueness of her unnamed disease, the scientists and doctors were eager to discover what was happening in Mandy’s body and accepted her case.

Mandy remembers feeling like a human lab rat. During the years Mandy was in the care of the NIH, her blood was taken hundreds of times, when she was sick and when she was well, in hopes of finding answers. She endured gruesome and painful immune studies, as well as hundreds of hospitalizations for various, unexplained infections.

A mass was discovered in her head when she was twelve. It grew and expanded into all four of her sinus glands and ate away at the bone on the bridge of her nose. Her doctor decided it must be cancer and gave a grim prognosis: a week to live. After being sent directly to NIH, Mandy’s doctors determined the mass was a result of Salmonella and E-coli poisoning. They estimated that the mass had been growing for two years. For several months, she traveled back and forth from Atlanta (home) and Maryland (NIH), undergoing numerous surgeries and taking many medications to eradicate the mass.

Caught in a Medical Mystery

For 22 years, Mandy’s doctors couldn’t identify the disease that continued to cause her body to form infections. She was caught in a medical mystery. Time and again, she would have no symptoms and no fever, and then suddenly become very ill. Her parents were told numerous times she was “a ticking time bomb.” They were told nine times she wouldn’t make it through the night because of the seriousness of her infections. They refused to say good-bye to their precious daughter. They never lost hope.

When Mandy was 31, her disease was given a name – IRAK4. The scientists finally had an explanation of how she inherited it. Her mom had a defect in her 14th chromosome AND her dad had the same defect in his 14th chromosome. This combination, this one in a billion combination, caused Mandy’s body to form its own potentially deadly infections. There are no known treatments. But Mandy was happy to learn she could give blood – not to be studied, but to save lives – and she can have children who will not face her same struggles.

In 2009, the NIH opened the Undiagnosed Diseases Program and asked Mandy to be their “Face of Hope” to inspire and encourage others who are walking the same unknown path that Mandy has traveled for many years. Mandy and her unique disease are still being studied at the NIH.

Her last infection was two years ago. She’s excited to be able to say, “The older I get, the better I’m getting. The parts of my immune system that do work are compensating for the parts that don’t work.”

Overcome the Obstacles

Mandy is passionate about sharing her testimony in hopes of helping others overcome the obstacles they may be facing. She recently shared her amazing journey with the students at my son’s school. She began her talk by saying, “We notice the differences in each other instead of the ways we are alike.” She pointed to her missing leg, giving a visual image of her words. Throughout her talk, I noticed how captivated the students were as she described her struggles and how she fought to overcome them by relying on her faith.

She described how amazing her family has been in supporting her and treating her the same as if she had two legs instead of one. In the last year or so, her sister pushed Mandy in a wheelchair so they could complete in several road races together. Mandy stressed the importance of keeping a positive attitude. She strongly believes, “It’ll all be OK in the end. If it’s not OK, then it’s not the end.”

Sharing her sense of humor and having fun are both very important to Mandy, so she intentionally surrounds herself with people that bring her up. She doesn’t believe in having pity parties; rather, she focuses on moving forward. She shared she’s been asked about being mad at God for all that she’s been through. She tells those people, “I don’t blame Him at all. I actually thank Him for choosing me. My life is not for my purpose. It is for His!”

* Mandy’s shirt (picture to the left) says, “Leg story $10.” Just one example of Mandy’s great sense of humor!

 Sharing Her Story

Mandy loves to share her story of facing her struggles, relying on her faith, and living life as an overcomer. Contact her at mandyyoung.com to have her share her story at your next event. You can also connect with her on Facebook and twitter.

Share with me: Mandy shared these words of wisdom with me: “God WILL give us more than we can handle, because He wants us to lean on/trust in Him. When you are facing a struggle, think back to your most difficult storm. You came through it, didn’t you? You are stronger because of it. Believe that you can do it again.”

Do you agree with Mandy? Why or why not?