"In Memory of a Friend"

In Memory of a Friend
 
A Tribute to Dr. Paul Fernhoff by Mike McConnell

I had the pleasure of knowing Dr. Fernhoff for nearly 15 years.  During that time period, he helped my family through numerous personal challenges and, in the process, served as a source of encouragement for me to help others.  Whether viewed as our doctor, health policy expert or inspirational mentor, Dr. Paul Fernhoff had a distinct and profound impact on my life and the lives of many throughout this State.

 I had my 50th birthday earlier this year.  That is one of those occasions where I believe you have a “stop, look and listen moment.”  You take stock of where you have been and consider some of the milestones and individuals who have impacted your life.  You take stock of those individuals that you have met during those five decades that really stand out.  I consider them my personal heroes.  Needless to say, Paul is at the top of that list. 

We frequently see people throw around words like ”selfless” and “charitable” and “giving.”  But as you can tell from all of the insightful comments by the speakers today, those words hardly capture the essence and impact of Dr. Fernhoff.  He coupled an infectious spirit with a pure heart to sustain the lives of thousands of patients and support the lives of countless newborns throughout the country and particularly Georgia.  He completed this great work with a natural ease and soft touch.  I first experienced the benefit of his gentle guidance during one of the most challenging times in my life.
 
None of my life experiences prepared me for a call I received from my wife, Nancy, in December 1996.  I had left the home that day much like any other day.  Nancy and I had two little girls at the time.  Meredith was 3 and our newborn, Morgan, was a little over nine months old.  As I sat at my desk that morning, Nancy called.  Although that was not unusual, I knew immediately that something was drastically wrong.  Nancy was in tears and hysterical.  My three year old was crying in the background.  And then my wife uttered the words that no parent ever wants to hear—she thought that our precious nine-month old daughter was dead.   

As we met at Scottish Rite later that morning, we were gratified that our child was still alive, but she was far from safe.  We learned she had some type of severe seizure, and her glucose levels were astonishingly low.  We remained in an emotional free fall as we spent the next two weeks in intensive care with Morgan, not knowing whether she would ever come home.  Even though we saw many great doctors, all of them scratched their heads.  Morgan’s condition did not fall into any neat area of diagnosis.  As we left the hospital, we still had no idea what was wrong with Morgan.  That type of uncertainty is a punishing form of psychological torture that I do not wish on any parent. 
 
But we then received an unexpected call from Emory Genetics.  We really did not know how Emory was even aware of our situation.  All we knew was that their doctors believed they may know why Morgan nearly died.  It was following that call that Nancy and I first met Dr. Fernhoff.  He was accompanied by Dr. Rani Singh.  I will never forget that first meeting.  Up to this point, none of the numerous medical professionals we had met could provide even a glimmer of light.  One or two were even less than helpful, and in fact were dismissive and resentful of questions.  Given this experience, we were somewhat apprehensive that these two new doctors would be any different.  But they were.  

Any anxiety was magically erased within minutes by Dr. Fernhoff.  He calmly explained that they were pretty sure that Morgan had a rare disorder which had recently been discovered a mere seven years earlier in 1989.  Although it was very rare, he believed that Morgan had some form of fatty acid oxidation disorder.  Those four words—fatty acid oxidation disorder—are a mouthful and sounded like a foreign language at the time.  But Dr. Fernhoff quickly made this complex genetic disorder seem simple.  Within a matter of minutes, he was able to communicate the essence of this disorder with the use of simple words.  Medical jargon was not needed.
 
He used a simple analogy that any Atlantan can appreciate.   He told us to think of the Downtown Connector.  It has eight lanes.  At three in the morning, you may only need one lane to handle all of the traffic on that road.  At other times, you need all of the lanes.  Our bodies also have the equivalent of an eight-lane highway to break down fat.  Sometimes we do not need all of those lanes, but when the body is stressed and needs energy, it needs all of those lanes.  For children with Morgan’s disorder, they do not have all eight lanes.  Depending upon the severity, they may only have one.  When their body demands more energy, they simply cannot break down enough fat to meet the demands of their body.  Imagine the Downtown Connector during rush hour with only one lane of traffic open.  Not a pretty picture.  He told us that is essentially what Morgan experienced a month earlier and the traffic jam in her system essentially caused a power outage.  He then proceeded to tell us how we would avoid that traffic jam going forward.
 
There were no fancy words.  No pretentious presentation.  Just easy terms that quickly made us begin to understand a complex genetic disorder.  More importantly, his calm manner and straightforward explanation provided clarity as to what we were up against.  It also provided hope on how we would confront this new hurdle in our lives. 
 
Now the reason that I share this experience with you is not to draw attention to our personal situation.  But instead, I wanted to use this as a mere, isolated example of the types of unique issues that Dr. Fernhoff faced on a daily basis.  Indeed, there is no doubt in my mind that you could have a line of parents from here to I-85 with very similar stories.  A common thread for all of these families with a child who has a rare disorder is the complete feeling of isolation.  These families wander on a very lonely journey through an uncertain and unpredictable path.  There are few folks who have any understanding of what your family is experiencing or the challenges you face.  In our case, there are only a handful of children in the country that have Morgan’s precise disorder, which is called LCHADD.
 
That’s one of the reasons why Dr. Fernhoff was such a rare breed.  He devoted his life to treating children with rare disorders.  There is very limited research funding focused on those disorders, and very few voices to support the needs of the afflicted children or the medical professionals who seek to help them.  There’s a reason they are called orphan disorders, and as a parent you feel acutely isolated and alone.   You feel like you are on an island even though you live in a very populated town.  That’s why I cannot communicate to you enough what Dr. Fernhoff meant to our family.  He was the bridge from our island.  He was there when Morgan faced what seemed an endless gauntlet of metabolic crises during her first five years of life.  He was there to get us to back away from the ledge.  He was there to shield us from looking into an abyss, and helped us to celebrate every time Morgan pulled through one of her episodes.  After every one of his visits, we felt better prepared to withstand the next round of punches from Morgan’s disorder.
 
His attention to Morgan continued unabated throughout the last 15 years.  He was so much more than a doctor.  He would periodically email me just to know how Morgan was doing.  As recently as this past year, as Morgan suffered another episode, he quickly responded to my urgent email to guide us yet again through another crisis. 
 
Again, I want to emphasize that we represent only one example of the countless families that Dr. Fernhoff nurtured through excruciating challenges.  Each of these families is as puzzled and confused as we were.  Each feels as isolated as we did.  Each is experiencing an emotional roller coaster.   I cannot adequately describe Dr. Fernhoff’s limitless empathy, humanity and energy devoted to serving this very rare collection of patients.
 
But that devotion to others was not limited to simply those families who found their way to the Emory Genetics Clinic.  That’s what brings me to my second chapter with Dr. Fernhoff.  About eleven years ago, he asked me if I would be interested in attending a meeting of Georgia’s Newborn Screening Advisory Committee.  I really did not know what that committee was or what it sought to achieve.  But if Dr. Fernhoff thought that I could be of some help, I certainly wanted to pitch in.  After attending several meetings, I started to grasp the importance of its work and the void it was filling in our State.  Prior to 1999, Dr. Fernhoff and several other medical professionals in Georgia sought to improve the ways we detected newborns that had rare disorders.  At that time, Georgia screened for nine disorders.  Due to the development of new technology, however, it was now feasible to screen for many more, including the disorder that Morgan has--LCHADD. 

 If parents know their child has one of these rare disorders shortly after birth, they can frequently take steps to avoid death or severe disabilities.  For example, merely giving an infant with LCHADD a few ounces of Coca-Cola in the middle of the night can be the difference between life and death.  With this expanded screening range, however, also came many difficult and thorny decisions which cut across a number of ethical, economic, political and public policy issues.  Whether the citizens of this State realize it or not, Dr. Fernhoff was the shepherd who guided us through this maze of issues.  In the process, we not only benefitted from his extensive expertise and invaluable knowledge regarding these very complex issues, but also his fortitude in working numerous back channels to help this State take the necessary steps towards vast improvements in the scope and effectiveness of our Newborn Screening Program.   
 
The Newborn Screening Advisory Committee formally started in 1999, and Dr. Fernhoff was a critical member since its inception and served as its first Chairman.  Through his vision and leadership, the Newborn Screening Program in this State has taken tremendous strides.  We now screen for 28 disorders, a threefold increase from the original nine.  Since the expansion of the newborn screening program in 2007, our program has detected and confirmed 19,102 infants who either have a significant disorder or are a carrier of a disorder.   Whether the families of these 19,000 infants realize it or not, many of these disorders would not have been detected without expanded newborn screening.  Whether those families realize it or not, expanded newborn screening in the State of Georgia would not have occurred in 2007 without the unyielding and tireless persistence of Dr. Paul Fernhoff.  Many obstacles were raised along the way, and at many points it appeared that the darker side of our political process would prevail.  In the end, expanded screening prevailed, but that goal would not have been achieved if Dr. Fernhoff had not reached, time and again, for what appeared to be an unattainable goal.
 
But Dr. Fernhoff never did any of this work for praise or recognition.  In my opinion, this prodigious and beneficial work was merely a natural extension of his desire to help as many people that he could.  He had an innate desire to help those who effectively had no one to turn to.  He wanted to help those children who had no one to champion their cause.  In so doing, he not only benefitted the lives of thousands of children over the last several decades, but established the platform that will help infants with rare disorders for years to come.  Dr. Fernhoff blessed our society with his selfless acts and leaves a legacy that will enrich the lives of innumerable beneficiaries.

In closing, Dr. Fernhoff’s passing hit me on a number of levels.  He was our doctor, our counselor, our advisor, a public policy ally, and a friend.  He was a rock that we leaned on during very turbulent times.  His untimely passing has left a tremendous void in our life, and I cannot adequately convey how much my family and I will miss him.   But I suppose it is only natural to miss our heroes.  Dr. Fernhoff is and will always remain one of mine.