Caught in a Medical Mystery

mandy young sign

 

“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.

Mandy Young 1After 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.

Mandy right after her amputation
Mandy right after her amputation

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

NIHFor 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 speaking 3Mandy 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.”

Her t-shirt says "Leg story $10"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?

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12 Comments

  1. Thank you Melony for sharing yet another wonderful story of overcoming, positive attitude, and trusting the Lord. I love the twist on the much-heard comment that God will not give us more than we can handle, flipping it to God WILL give us more than WE can handle…so we lean on Him. Awesome!

    1. Mandy, your story is one of tremendous difficulty but more importantly, one of supreme persistence and faith. Wow, Melony did another amazing job, capturing the essence of your struggle and overcomer attitude and dedication to others, by sharing your situation. I have to say, I LOVE the t-shirt!!! Can I get one? I want mine to say $20 for the legs’ story. Thank you for influencing so many.

  2. This is a pretty incredible story,. there are sooo many things that doctors do not understand about the human body, but God understands!!

  3. Mandy Young is a true overcomer! Though Mandy’s struggles began as a young child, she possess an incredibly positive attitude and zest for life like few i have known. She is an amazing young woman who shines a bright light wherever she goes…and she IS on the go! Her effervescent personality and charm make her a magnet naturally drawing people to her. She uses every opportunity to point others to Christ. She is a true joy – with a great sense of humor!

  4. Thank you for sharing this amazing story of triumph over Mandy’s struggles. Her joy looks contagious, and I will think of her the next time I have a “bad” day.

  5. At school, we had the opportunity to hear Mandy’s story and I know I walked away that day encouraged by her and realizing that God definitely is in control. I just need to remember to give it to Him! Thanks for sharing, Melony & Mandy!!

  6. My 15 yr old daughter Deana has the same disease as Mandy. As well as other auto immune deficiency’s too… She went through a lot of uncertain times and has had pneumonia 37 times before they finally diagnosed her with IRAK4 deficiency. I feel your pain Mandy, and I will continue to pray for you as well as my daughter. Lots of love coming your way!!

    1. Nancy, Hi I am Lisa Young, Mandys mom and for some reason I am just seeing your post on Mandys story. I would love to talk to you. My email is lisacyoung@bellsouth.net if you ever have time, drop me a note. I would love to know more about your daughter. God Bless, Lisa

  7. Wow! What an amazing story! What a testimony of how “fearfully & wonderfully made” we are as uniquely, created individuals! I both agree with, and am inspired by Mandy’s words.

  8. This is truly an AMAZING article. We are sometimes giving so many hurdles to jump over in life, but God’s faith is all we need. Thank you for sharing Mandy’s story to remind us that we should remain positive in difficult times. Those obstacles are ways to renew our faith.

  9. I’m honored to personally know Mandy and call her friend. I met her through a mutual friend and we hit it off from hello. She’s a woman of great faith whom I truly admire. I’ve met her family and they are her backbone of strength. She has been through so much pain but always has that electric smile showing, even on her not so good days. Every day is a gift to her and she lives those days to the fullest. She will always keep you laughing and it’s true she doesn’t like being pitied or seeing others hosting their own parties. She gets around great and let’s nothing stop her so there’s really nothing to pity. She’s exactly how God created her and he gave her a tenacious strength to endure what was ahead. Her testimony is awesome to hear, especially in person.

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