The Journey of a Lifetime is Always Worth the Wait

Part 2

         Last week, I began sharing with you my incredible journey of becoming a patient of The National Institutes of Health, (NIH). I quickly learned that my journey at the NIH was going to be much like a puzzle.  With each stage, I would receive a new puzzle piece to help connect the complete picture.  However, my puzzle wasn’t just a simple 100 pieces.  It was more like a puzzle that contained 5000 pieces, the one that takes not weeks or months but YEARS to complete.  At the end of my blog post last week, I was about to receive another piece of the puzzle—

When I turned the corner of the hallway of the numerous exam rooms, I saw

my research team standing beside the room where I would be examined and my eye immediately caught something different with my team of doctors.  Standing with the group of physicians and nurses was a young man I had never seen before.

Who was he? 

He looked young with his get up of a flannel shirt, jeans, and boots, but that fact didn’t mean he was. As a 24-year-old who could pass for a 12-year-old, I knew from experience even though he looked like he was skipping fourth period Chemistry, he could still be much older. I was ushered into the examining room along with my parents and my main doctor quickly explained who the new addition was, revealing the role he played in my case, a role I never would have expected.

         The man was a graduate student at The University of Pennsylvania, pursuing his M.D. and Ph.D. He came to the NIH to his complete his dissertation.  Upon arriving at the NIH, he was given my medical case.  After two years of studying and researching my test results and medical history, he had discovered the gene mutation that had caused my disease.  It was a newly discovered gene mutation and I would be considered the pioneer patient.  My case would be the focus of his dissertation.

         In that moment I realized that God wasn’t only giving me closure but favor as well.  I was feeling so many emotions— I was surprised this man, who wasn’t much older than I was, had discovered this new disease.  I was elated I would be the focal point of this student’s dissertation research.  I felt anticipation of what would come next.  Since my research team now knew a gene mutation had caused my illness, this could open so may doors to improve my quality of life even more. And perhaps in the secret parts of my soul, I wondered what having this gene mutation would mean for my future.

         Immediately, I wanted answers.  When would he present his dissertation?  Were there treatments or medications I could take that would improve or reverse the immune deficiency this mutation had triggered in my body?  Were there medical conditions I could expect to develop in the future—

 and I quickly learned discovering the gene mutation merely scratched the surface.  Before the Ph.D. student could defend his thesis two things had to happened.  First, he hoped to find another person living with this gene mutation to provide creditability and solidity to his research. Secondly, I would have to undergo much more testing to prove his thesis was accurate.  He would have to give an explanation of why this gene was the one that mutated and what this mutation would do to one’s body.  There could be no unanswered questions or errors in his research.  Of course my research team had educated guesses to every question, but the answers had to be scientific facts. 

         This led to a year and a half of testing and extensive amounts of blood to be taken from my body to be researched and studied to uncover any answers about this new gene mutation.  During that year and a half my research team also attended medical seminars presenting my case in hopes another physician might have a patient who exhibited the same or similar symptoms that I did.  Ironically, at one such medical seminar the young student was presenting my case, my immunologist from Nationwide Children’s was attending.  As the information was being presented he realized that I was the patient being discussed.  After the presentations, he approached the student and asked him if he was talking about Whitney Ward.  In surprise confusion, he told the older physician that he was in indeed referring to my case.  My immunologist explained that he was my doctor at Nationwide Children’s and he was the physician that submitted my case to this particular research protocol.  It was such a comical situation because it confirmed to me how distinct my medical history is.  I’ve heard many times throughout my life from different specialists, “You’re definitely no textbook case, Whitney,” and this incident proved the statement to ring true.  However, I was about learn this statement reached truths I did not know were a reality.

         A year in a half after I was told by NIH research team they had discovered my gene mutation, I returned to the facility to undergo more testing and for them to reveal more information they had uncovered through their research.  During this visit they gave me some amazing and startling news.  My main research doctor explained she and her team had been traveling to different medical seminars presenting my case in hopes of finding another patient with the same gene mutation.  With all of their efforts, they failed to find another patient.  My doctor explained that this was unusual, they DID expect to find another person.  We then received some very shocking information. The fact they were unable to locate no one else, combined with the results of their research, my NIH team surmised that most babies with this gene mutation were either still-born or miscarried, because this gene mutation was so horrific.  My parents and I were so stunned.  My mother was so astonished she had to clarify she understood what my doctor was actually saying, “So what you are saying is that all babies are a miracle, but my baby is even more of a miracle?”  My doctor responded with this profound statement, “Yes.  It’s a miracle she survived your pregnancy, it’s a miracle she’s still alive and it’s a miracle she’s doing as well as she's doing”

         In that moment, God confirmed to me I was still on this earth for a reason and purpose.  I may not have known the full reason at that time, but He was giving me another puzzle piece to help complete the picture. 

As much as I would have liked for it to be different, the “season of waiting,” wasn’t over for me. It would be another year of waiting and wondering when God would supply more pieces of the puzzle.  Little did I know, the year of waiting would not be in vain. God was going to give me several more of the puzzle pieces, forming an amazing and unbelievable picture and an opportunity a patient rarely receives. 

What was the opportunity you may ask? 

Well, just as a puzzle takes time to form, my picture is no different.  Next week, I will share with you the puzzle pieces given to me to create this opportunity— puzzle pieces I never thought or expected would fit in my picture.