I was born a healthy baby, with two arms, two legs, ten fingers and ten toes. Soon after that is when my life became about doctors, hospitals and illness. By the age of 4 I had already battled spinal meningitis three times, a stroke, seizures, scarlet fever, tubes put in my ears 11 times, had my mastoid bone removed, had an abscess the size of a softball in the lymph nodes of my stomach and that’s just to name a few.
My body continued to develop these horrible, life threatening infections and no one could figure out why. We traveled the country looking for a doctor or hospital, but we kept being turned away. We were told repeatedly that my body was further advanced than medicine.
A couple of years went by, the infections seemed to be coming less, and it started to appear that I was somewhat healthy. Two weeks before my 9th birthday I found myself back in the hospital fighting for my life once again. Doctors told my parents that I had two massive and rare infections (gas gangrene and colostrum septicemia) that were spreading throughout my body.
This is when my parents were forced to make a decision. Either they could let me die or doctors could try to amputate the leg but still only giving me less than a 3% chance to live. This was the ninth time that my parents had been told I would not live through the next hour. For my parents, there was no decision; the surgeon amputated my left leg and hip in an effort to try to stop the spreading infection. After two very intense weeks of ICU, I finally woke up out of my coma. I had survived!
During my 2 months of being hospitalized, our search for finding a doctor became our top priority. There had to be someone, somewhere willing to try to figure out why I continued to get these life threatening infections. After what seemed like an eternity, Dr. John Gallin decided he would take a chance on my rare case. My family traveled back and fourth to Maryland for 14 years to see Dr. Gallin and his team. During those years, I underwent hundreds of medical tests.
Over the span of those 14 years, it didn’t seem like we were getting any closer to a diagnosis; until one day, the phone rang. It was Dr. Gallin and he said, “We know the basis of Amanda’s problem”.
IRAK 4…is my genetic mutation. We had been waiting 22 years for this diagnosis. Think about that. It wasn’t a few days, a week, or even a few weeks. We waited 22 years!
Basically, we discovered is when my body is exposed to an infection, my white blood cells don’t receive the signal to fight it off. And because I don’t show normal symptoms to illness, like running a fever, by the time, my body does recognize the illness, I can already be critically ill. It is caused by a gene defect (actually two separate defects) that each of my parents carry.
You might be wondering, what are the chances of this happening? Well my doctors say that I have won the medical lottery! Especially since, I’m the only person in the world with my exact genetic mutation. Pretty crazy huh? The odds of my parents, who have these defective genes meeting, marrying and having children, were one in a million. The odds of me having the IRAK-4 gene mutation were astronomical.
After reading a little about my life you might understand two things; 1. My diagnosis is pretty fitting, since my whole life is kinda crazy! 2. Why it’s so hard for me to simply answer the “what happened to your leg?” question.
“For I know the plans I have for you, declares the Lord, plans to prosper you, not to harm you to give you hope and a future” Jeremiah 29:11
This is my life verse. The verse that helps my life make sense. Only God knew what life lay before me. He knew His plans for me. He made me and knew I could endure whatever obstacle he put before me and He knew He would only give me what I could handle. Never in my life have I ever thought that God was trying to harm me or do what was wrong for me. I always trusted and knew whatever He had me going through was going to make me a stronger person.
Not until recently did I figure out it wasn’t only making me stronger it was also bringing me closer and making me more faithful to Him. I can’t do anything without Him but as Philippians 4:13 says, I can do all things with him! He chose ME! He has given me a huge job to handle for Him.
Therefore, to repay Him I live for Him, telling others the story, He has given me to tell and even though I’m a sinner, I try my best to live like the greatest example He ever gave us, Jesus.
My medical journey is not over. It has now been 21 years since I became a part of the NIH family. There is no treatment or cure for IRAK 4, so I’m still being studied. Plus from what they are learning from my research, they are learning more about other diseases like lupus, heart disease, arthritis and certain types of cancer. Because of my research, other diseases that millions of others suffer from are being better understood, and I’m so blessed to be a part of it. So I will continue to donate my living body to science. This body is just a vessel for this vapor life and we are supposed to help our brothers.
I will continue to live the life God has planned for me and even though it gets tough sometimes, I remind myself my life isn’t about me, it’s about Him and what HE has planned for me. And as long as I’m where He wants me to be then I can’t go wrong.
Her story has been featured in newspaper articles like USA Today, in Good Housekeeping Magazine and on T.V. shows like Extra, Montel Williams, NBC Nightly News and international programming like CNN’s Medical Mysteries. She has been honored to be the spokesperson for several organizations and the "Face of Hope" for the new Undiagnosed Diseases Program at the National Institutes of Health.