The Journey of a Lifetime is Always Worth the Wait

Part 3

The journey of a lifetime is like an exciting novel full of plot twists; peppered with puzzle pieces that give us clues to what the final picture may be.  Isn’t it funny though when we we can see past the finish line of a race we have ran for so long, the last several miles seem like a marathon? That’s what my journey with the NIH felt like after my head doctor shared the news it was a miracle I was alive— like a long exhausting marathon.

When I heard the news this gene mutation was so horrific, I of course was shocked, but once I the registered the information my mind went to what step would be next.  Did this mean the Ph.D. student could now present his dissertation? Did they know of any treatments that would benefit my body better? Were they now allowed to name this new disease?  And one of the more important questions: when would I be able to google it?  If you guessed the answer to these questions were more tests and bloodwork, then you would be correct.  In this fast-paced world we live in, we want answers and we want them right at that moment.  In the world of the NIH, answers simply didn’t fall in one’s lap.  The answers come from careful research and study.  Even when the answer was discovered, it had to be confirmed multiple times before it is considered fact.  In the world of science, there could be no room for questions.

There was no one else to compare my case and test results too due to the fact no one else with this same gene mutation could be found; which made discovering answers more tedious and time consuming.

With each visit new information was given to me about my disease. The most surprising fact perhaps was neither one of my parents were carriers of this gene, meaning it mutated on it’s own.  My doctors surmised it happened while I was still in the womb.  They preformed a skin biopsy to see if the mutation would present itself in the cells of the skin.  If it did, it would tell my doctors two things: 1) The disease was in every cell of my body and 2) It was dominant, which meant there was a 50/50 chance I would pass it on to any child I might have in the future.  Some might think it was a blessing I knew this information before I was in the phase of life of getting married and beginning a family.  They would be correct. It was a blessing to know the possibilities, but at the same time I became plagued with the questions: how could I live with myself if I gave my child a life-threatening gene mutation and what man would want to share his life with a woman who could potentially be the cause of their child’s pain and suffering?

I have had to give that part of my disease over to God. Sometimes those thoughts bring tears to my eyes, but I remind myself He knew I had this gene mutation long before my doctors at the NIH did.  He’s given me a wonderful life I should have never had by any scientific reasoning and He would do the same for any child I might have. 

With each visit to the NIH there would be new information they could share and my relationship with my team of doctors became stronger.  When you have a chronic illness you see your specialists several times a year and sometimes several times a month.  You form a bond with them and they become like family.  I had this bond with my specialists at Nationwide Children’s and it was no different with my team at the NIH. At one such visit, my parents and I attended the wrap-up appointment where my NIH team would explain what they discovered during the visit and what would come next.  The night before this appointment Ohio State played in the National Championship.  Up until that point in my mind, I thought my NIH team had no life outside the lab.  I would never have thought they would stay up to watch Ohio State play for the National Championship, but I was about to be surprised.  When we entered the conference room to meet with my doctors, my mom ended up sitting beside the Ph.D. student.  My head doctor began explaining to me what the team discovered this visit and what those test results meant, and the young man leaned over to my mom and whispered, “Did you watch the Ohio State game last night? What a game!”  We still get a chuckle out of that.

  We would laugh and joke with each other like old friends and because of the camaraderie we shared, the most amazing opportunity began to take shape.  

Anytime a new discovery became fact, the Ph.D. student’s dissertation got closer to being complete.  At one visit he was discussing with my parents and I what he still needed to do for his dissertation and when he expected to be able to present it.  I jokingly told him I would love to attend it, and he got a surprised look on his face.  He couldn’t believe that my family and I would actually want to attend it.  In my mind it would be an honor because how many people could say they attended a Ph.D. dissertation that was about them? It would provide a closure in my life I never thought was possible.  To my surprise he was just as excited for me to attend his dissertation as I was, for the same reason, not many Ph.D. students discover a new disease and then actually have the patient with the disease in attendance. 

That opportunity alone would have been amazing, but the doors continued to open.  When I first learned I had a newly discovered disease, I dreamed of being able to name it.  This illness had been apart of me my whole life.  Yes, my doctors had discovered the gene mutation, but I had lived with it every single day of my life.  They knew what this disease could do to my body, but I had felt the effects of it every time my immune system bottomed out.  With every life-shattering medical dilemma that came to surface, I came through it victorious because of God’s strength.  These reasons stirred within me a longing to be the one to name it.  I remember mentioning it casually to my team of doctors, half-way kidding, but also hoping they realize the unique validity the name would have if the patient named the disease. Once again I was amazed at the response I received.  They didn’t laugh off the question, but they were intrigued by it.  They explained the protocol for naming disease had changed.  No longer was the illness named after the doctor who discovered it or the patient it was found in.  The name was an acronym based on the main symptoms the disease caused in the person’s body.  The reason for this was for when doctors tried to diagnose the patient, the acronym would remind them of the symptoms they should look for.  While the disease couldn’t contain my name or my initials, they loved the idea of my giving input on the name of my gene mutation.

The thought of receiving these privileges gave my journey with the NIH a new found purpose. At this point in the research of my disease I was the guinea pig. I had to be the one to undergo every test and procedure to give them the answers my team of doctors needed since there was no one else with this illness to share the load.  I didn’t mind though because I knew every test I agreed to participate in, every drop of blood I gave could be the key to unlocking another pivotal piece of information about my disease.  This wouldn’t only help me, but it would help other patients diagnosed with this particular immune deficiency as well. Yes, I understood how undergoing these procedures would be beneficial in the long run, but the possibility of attending the dissertation of the young scientist and giving input on the name the disease would be called gave me an unexpected gift.

The scientific procedures eventually became very fruitful when my team of doctors uncovered a major clue to my illness. The problem was he couldn’t put this information in his dissertation without proving his hypothesis and the way to do this was by a blister study test. If your thinking this sounds painful, then you would be correct.  A special team had to be brought in to perform it. I had to spend the night in the hospital for the procedure to have time to take effect.

In all of my years of going through testing and procedures, there were few that were so unbearable; taking everything within me to withstand the pain to make it through the procedure.  This test made the list- that night was a horrible.  The pain radiated down my arm and into my hand and my hand swelled more than twice it’s size due to the contraption being wrapped so tightly to prevent the serum from spilling.  I’m sure the young scientist’s ears were burning in the night because I was telling him exactly what I thought of him having me go through this procedure.

By God’s grace, I made it through the night and thankfully the test wasn’t done in vain.  The procedure proved my research team’s hypothesis. After this test my doctors were sympathetic to the trauma my body went through and explained they had enough research to sort through and they wouldn’t need to see me for a while.

I was very grateful I would receive a little bit of a break from all of the procedures, but what I didn’t count on was this break being a whole year.  Normally someone would contact me five to six months after a previous visit.  Not hearing from anyone past six months was very difficult.  I’m a very analytical person, which is a strength and a weakness.  During the year so many thoughts crossed through my mind.  Had the Ph.D. student presented his dissertation?  Did they name the gene mutation yet?  And if they did, why hadn’t I heard from someone?  I understood protocols could be strict and maybe I wasn’t allowed to attend his dissertation or help name my disease, but why wouldn’t they at least explain to me it wasn’t possible.  At this point I felt like I came to a complete halt in the race I had been running.  The finish line had been in sight, but now it seemed I wouldn’t cross it.

Isn’t it funny how it works though? Just when we think a door has shut, is exactly when it opens wide.  Almost a year after the dreaded blister study test, I was contacted by the NIH.  They needed me to come for another visit because they were in need of more of my blood for research purposes.  I was so excited to hear from them, but I was also nervous about what I would find out.  If my disease had already been named and the young scientist had already presented his dissertation, I wouldn’t let my doctors see it, but my heart would be broken. 

This trip to the NIH turned out to be a very easy visit. To my surprise the reason I hadn’t heard from my doctors in a year was a very exciting reason, and yet a very sad one as well.  My main research doctor explained to me they had found another patient with the same gene mutation as me.  They had been working with his skin cell samples for the last year and then they delivered the blow.  This young patient’s mutation was extremely severe and the child had passed away.  I remember going to the restroom and tears came to my eyes.  My heart broke for this child’s family and what this disease took from them. I remember thinking why did this precious child die from this illness and I was still alive? It hit me harder than ever before that it was a miracle I was alive and living a healthy life despite the disease.  For some reason, God still had a purpose for me. I was determined the life of this young patient and the other patients we didn’t know whose lives were taken by this gene mutation would not be in vain. I would live life to the fullest for all of us.

The ironic aspect of this visit was I never once saw the young scientist.  Every time he would try to come from the lab to see my parents and I, he would receive more of my blood and would have to begin the research process.  My head doctor explained this would be my last visit he would be at the NIH because he would return to The University of Philadelphia to continue med school.  I told her I hoped we’d get to see him again, to which she replied, “Oh you’ll see him again, you’ll see him at his dissertation.”  I remember my heart leaping with joy at these words.  My doctors hadn’t forgotten about me and God reminded me in that moment He knows the desires of our hearts and they matter to Him as much as they do to us.

After this visit I knew it was just a matter of time before I received word about the Ph.D. student’s dissertation and a month later in May I did.  He emailed me and invited my family and I to his dissertation which would be held in September. He explained he’d understand if this was something we couldn’t do, but it would be an honor for us to attend.  Of course we accepted his invitation; this was an opportunity you simply didn’t pass up. I had begun the last leg of the race and I wasn’t going to stop.

The thought did cross my mind from time to time if they would remember I had a desire to help name my gene mutation, but I was just thrilled with the prospect of attending the dissertation where my disease would be presented.  This opportunity alone was an honor. However, when God blesses, the blessings usually overflow and my cup was about to spill over. 

The end of August, about two weeks before the scientist’s dissertation I received another email from him.  He explained he remembered I expressed an interest in naming my gene mutation and wondered if I would like to contribute some names or vote on some of the choices he and the other research doctors had come up with.  He reminded me the name would have to be an acronym of the symptoms my disease produced.  He gave me the prominent symptoms and asked if I submitted a choice the acronym would represent the words from the list he had given me.  He stressed the fact the names I submitted would more than likely not be chosen. In fact, the one’s he submitted probably wouldn’t be chosen; but even so they would love my input. 

I was blown away by the incredible honor they were giving me.  It meant so much to me because it showed me my doctors respected and valued my opinion and believed I had something to offer.  I knew this name had to have a scientific meaning, but I wanted the name to also have depth and be an inspiration to anyone who may be diagnosed with this type of immune deficiency.  I submitted three names, but my favorite name, the one which resonated with my heart was MAGIS Syndrome.  MAGIS meant, “More,” in Latin.  I wanted anyone who was diagnosed with this gene mutation to know they were More than their disease. Upon further research of this name I discovered MAGIS was also related to the Latin phrase, “ad majorem Dei gloriam,” which meant, “For the greater glory of God,” referring to the philosophy of doing more for Christ, and therefore doing more for others.  When I heard this information, I couldn’t believe it.  This name was perfect because it was only by God’s grace I was still on this earth and therefore, I wanted to do more for God and impact this world.  If it had been my choice this would have been the name, but it wasn’t my choice and I was resigned to the fact MAGIS probably wouldn’t be the name chosen by my doctors.  

The two weeks passed quickly and before I knew it my family and I were sitting in an auditorium listening to the Ph.D. student I had met three years earlier present his dissertation.  To be quite honest some of what he said went right over my head, but I didn’t mind.  I was just so thrilled to be there.  Towards the end of his presentation he gave his final remarks about the gene mutation and told the audience the name they decided to give this gene mutation was…MAGIS Syndrome.  I couldn’t believe what I was hearing! My mom and my sister were sitting on either side of me and I began elbowing them, “They chose my name, they chose my name,” I whispered excitedly.  In that moment I felt so blessed and highly favored.  How many people could say they named their disease?  

Once I came down from my cloud, I realized he was in the process of thanking people who had helped make this day possible for him: his professors, the doctors who mentored him, his family and then…he came to me.  He told me he could have never made it to this day without everything I did for him.  He appreciated every test and procedure I agreed to go through, realizing it wouldn’t only benefit me, but others who would be diagnosed with MAGIS Syndrome in the future and it had been an honor for me to be his patient.  He then bent down behind the podium and picked up a bouquet of flowers, walked over to me, gave me a hug, and presented me with the flowers and everyone applauded.  The feelings I had right then were elation, humbleness, anticipation, awe, and closure. 

Every single thing my heart desired, all of the dreams I dared to dream had come true that day.  This chapter was finished and a new one was about to begin with the NIH. The final puzzle piece for this picture had been placed and the picture was beautiful.  That day I crossed the finish line of a race I wondered if I would ever finish and the feeling was exhilarating. What about all of the waiting you may ask?  Well, it had been the journey of a lifetime and those— those are always worth the wait.