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.

The Journey of a Lifetime is Always Worth the Wait

Have you ever had THAT feeling? The feeling in the depths of your soul that God is about take you on an exciting adventure?

         I’ve had IT a few times in my life.

         When my immunologist told me that he sent my medical case to The National Institutes of Health, I just knew I was on the brink of something life-changing.

 In 2010, I was at a routine follow-up exam with my immunologist. During that appointment, my doctor informed me that he sent my case to be evaluated at The National Institutes of Health, (The NIH).  There was a new disease that was discovered at the NIH called DOCK8, and the symptoms I had exhibited were very similar to those for this illness. My doctor presented my case to the immunologist at the NIH who discovered DOCK8 in hopes that she would accept me into that protocol.

 He told me there was a possibility I could receive a phone call from the NIH if she felt I was an appropriate candidate for DOCK8. I didn’t fully understand the type of medical jargon my immunologist was using, but immediately an excitement came over me. For the first time in my life I thought, this could be it. I may finally know what had been causing my illness.

   If you’re confused about what the NIH is and what protocol means, don’t feel bad because it’s taken me a long time to understand what it fully entails.  The NIH is our government’s medical-based research facility located in Bethesda, Maryland.  At this hospital many new diseases are discovered, known illnesses are researched, and treatment and medications are explored as solutions to help the quality of life for people who suffer from diseases.

         A protocol is the guidelines, rules, and symptoms a person must fit into and show signs of to be accepted into a NIH doctor’s particular research program.  

 In order for me to be accepted into DOCK8’s research protocol, not only did I have to exhibit the characteristics of the disease, but I had to fit into the set guidelines and rules this particular research doctor had deemed necessary.

The next few months, I was on the edge of my seat waiting to be contacted by the NIH. In my heart of hearts, I knew it was just a matter of time before someone would reach out to me.

 After three months of waiting, I received THE phone call. The woman who contacted me was the research doctor’s nurse and he explained that her boss believed my case DID fit the DOCK8 protocol. The first step they required was preliminary blood work at Nationwide Children’s to assure my labs lined up with what my medical records showed.  She cautioned me to not get my hopes up, because there was still a chance my bloodwork results would not fit in the guidelines.  Once again I understood the reason she cautioned me, but the feeling was still strong— the story God was writing for me had a new exciting chapter I was about to live.

After several months of the NIH studying my bloodwork, the results came back. I received the word I DID INDEED fit the DOCK8 protocol; and the research doctor wanted to set-up a week for me and my parents to come to the NIH for more testing.

 Even the research nurse told me I might not have DOCK8 and more than likely, the doctor and her team would never unearth what was wrong with me— it didn’t damper my spirits. There was a good chance I would only give them valuable research through my case and nothing more.  It was something they said to every patient, so false hope is not given and end in disappointment.   I understood their message, but once again, I felt the Holy Spirit whispering in my heart I wouldn’t be one of those patients.

My first visit with the NIH was in August of 2011.  That week was a whirlwind of tests, procedures, and being seen by multiple speciaists .

 By the end of the week my parents and I were physically and mentally exhausted from walking to one part of the hospital to another one and sharing every piece of my medical history from birth to present. Through all of the testing, I endured that week, it was determined I did not have DOCK8.  Despite these findings, my research doctor assured me her and her team were committed to my case.

If you were wondering was I disappointed I didn’t have DOCK8—Definitely Not!  It would have been a quicker journey to finally receive answers, but I believed God had an exciting twist He would reveal in His time.  I also came to see God has given me another team of amazing doctors and nurses of whom I have become very close. 

Since becoming a patient at the NIH, I have found some of the public’s persona of this facility is negative.  People assume because it’s a government research hospital, the people who work there are robots treating their patients like test tubes and not like people.  What I have come to discover is this is not accurate at all.  Every doctor and nurse I have come in contact with has been so personable and they have respected me as person.  What has impressed me the most with the NIH is they have assured me that if there is any test or type of research I’m not comfortable with, then I have the choice and right to opt out.

 There was just one little glitch when I chose to participate in the research they requested.  I came to see test results wouldn’t be available within a day or even a week.  No, it would take months and months of research in her lab, making long spans of time just waiting.

I recently attended a writing conference and each morning there would be a devotion before everyone would attend the different sessions. One particular day, the woman gave her devotion on waiting, because in the world of writing there includes a fair amount of waiting.  She gave us the clever and profound analogy that writing is one typo off from waiting. 

I have to laugh at the fact I’m immersed in two worlds where waiting is not only normal, but should be expected.  Thankfully the waiting has not only paid off, but has brought me tremendous blessings.

In 2013, three years after I began my journey with the NIH, the very same nurse who told me not to get my hopes up for my doctor and her team discovering what had been causing my illness, gave me the most amazing news.  They had indeed discovered what was wrong with me.  I must admit that while writing this, I have tears in my eyes; because I still remember the closure and elation I felt when I heard those words.  Little did I know at that time, God wasn’t finished with this chapter yet.  The plot was about to thicken in a way I never expected or dared to dream. 

I went to the NIH in November of 2013 for them to explain everything to my parents and I.  I was taken from the waiting room to an exam room and to my surprise…are you on the edge of your seat? 

Good!  Because this is the perfect place to stop, so I can share the rest next week.

Why you may ask? 

Because God wrote this story and as with all stories that God writes, it’ll be worth the wait. :)