Another Sighting of Moby Dick

The timing could not have been worse.  As the pilot began to accelerate on the tarmac at Atlanta Hartsfield International Airport, Seth is sitting in his seat next to me resting his head against my arm.  We have just spent 4 days in Atlanta, GA where Seth had a battery of testing and and is recovering from surgery.  He begins to turn pale and I can tell that something is wrong.  His body begins the involuntary process of his abdominal muscles contracting.  He is about to vomit.  The plane is completely full and Becky is sitting in the seat across the aisle.  I grab the bottom of Seth's shirt just in time to catch the vomit.  Then comes round two, three, and four.  His coat and clothes become the bags and rags to collect and clean up the emesis.  There are not enough vomit bags in the seat pouches in front of me to collect all the fluid filled with partially digested M & Ms.  

Have you ever vomited or had to catch someone's vomit in one of those small bags when the airplane is taking off?  I felt terrible for those who were sitting near us.   I motioned to Becky what was happening and as soon as it was possible, she gets a change of clothing from the overhead bins.  As we land in Phoenix, it is evident that Seth needs to have IV fluids.  After a trip to the emergency department, we finally made it home at 3 AM.

Seth Parley Belnap.  Truly a miracle!

I will never forget that trip, not because of the terrible flight, but because this was when we learned of the severity of Seth's disease.  Seth was diagnosed with a severe degenerative and usually fatal form of Mitochondrial Disease called Leigh's Syndrome  and Cerebral Folate Deficiency.  I will never forget Dr. Shoffner telling me and Becky that Seth's prognosis was poor and uncertain and that he could live 6 months or 6 years.  I will never forget the family meeting we had with our children as we told them the terrible news about their little brother.  That was December 2010.

Fast forward to June 18, 2013.  We were returning home from more doctors appointments and a vacation.  As we landed in Phoenix, AZ at the Sky Harbor International Airport, my mind seemed to be like the banner of your flat screen TV on election night as many emotions and memories were streaming through my head .  There were no memorable vomit stories on this flight (Spencer too vomited on one flight home last year).  There were no ER visits to report.  

For us, once the plane ride is over, our trip home is a little over 50% done.  It is a 3.5 hour drive from Phoenix to where we live in the White Mountains of Arizona.  Driving can be a time of reflection, solace, anguish, reminiscing, or being the referee of the fighting between siblings.   As I reminisced about the many trips home, both from Atlanta and Phoenix, this drive was different.  The emotion that seemed to supersede all the others was gratitude.  How many times have we made this trip only to have more bad news and uncertainty.  Not this time. 

This trip was filled with more testing and some unexpected, but well invited news. Dr. Shoffner was doing some additional genetic testing only on Seth.  He did a comprehensive cellular energetics  panel by NextGen technology which tested 656 genes.  I knew he was doing these tests and was anxious to here if he had came to the same conclusion that TGen had come to on the MTFMT gene (see blog post Moby Dick Has Been Spotted.  The Chase is on!) 

As I have mentioned in prior postings, searching for the genes responsible for causing Mitochondrial Disease is analogous to Captain Ahab and his whaling boat the Pequod searching for The Great White Whale called Moby Dick in the vast thousands of miles of open oceans. 

After several months of searching the vast genetic oceans filled with DNA, There has been another sighting of Moby Dick.  This time, the Great White Whale has been spotted on chromosomes 1 and 15 by another captain of our whaling boat, Dr. Shoffner.  My fellow readers:  the chase is definitely on!  Our doctors are unraveling the complex clinical and genetic mystery that is causing Mitochondrial Disease in our family.

Spencer doing a cardiopulmonary Exercise Stress Test (CPET) an all out test that once you are done, you want to...vomit.  Spencer ALWAYS does very well.  His version of mito is baffling to me.

Sydney doing CPET.  This is very difficult for her.  Mito sucks!!!

Seth getting his resting metabolic rate tested

Seth getting an ECG 

During our appointment with Dr. Shoffner, he was very surprised how well Seth was doing.   As we explained the progress he has made over the last year, he seemed astonished (in reality, we all are astonished). His reply:  "Kids with Leigh's disease don't get better like this."  Seth is categorized in the Leigh's disease classification of Mitochondrial Disease because of the bilateral basal ganglia lesions in his brain that have been present on his MRI for since 2010 and because of the MTFMT genetic mutation.  Lesions in this area of the brain are never good, but his are shrinking.

Waiting in Dr. Shoffner's office.  Seth is holding...a ball (egg) which he used to entertain us in the waiting room

We had appointments for 3 hours.  It was like a 3 hour lecture in genetics and biochemistry.  I was loving every minute of this.  Now for some details.  As expected, Dr. Shoffner came to the same conclusion on the MTFMT gene and had also found another gene mutation that was deleterious (or harmful).  The new gene mutation is called MFN2 and is located on chromosome 1.  He also found 10 other mutated genes which are in the category of "variants of uncertain significance (VUS)."  It is unknown if these mutations are harmful or helpful.  All we know is something is happening that is allowing Seth to not only survive, but thrive!


The other good news had to do with Spencer.  Spencer had one question for Dr. Shoffner:  "Can I play soccer?"  Dr. Shoffner told us that he has looked hard at Spencer's case and has tried to not put him in the Mitochondrial Disease category, but all the data and his headaches put him in this category.  That being said, we all made the decision together that it would be OK for Spencer to proceed with the life he had prior to this diagnosis, but to proceed with caution.  Spencer was very happy about this.  

Words are difficult to describe how Becky and I felt about our last appointment with Dr. Shoffner.  He was so helpful and made sure we understood what was going on.  He also was baffled about Sydney's denial of her disability and was willing to go to bat for us in helping us fight this unnecessary battle.  This could and should be a topic of another post.

My closing thoughts.  I do not know if Seth's prognosis has changed.  I try not to think about that.  I do know he has a gift to love others and make others feel loved.  It's an amazing gift that's hard to describe.  Those of you who have met Seth know what I am talking about.  I do know that I try to live in the moment.  I do know that Becky and I are thankful and fortunate to have Dr. Shoffner and Dr. Narayanan as our children's doctors.  The fight for awareness and a cure for Mitochondrial Disease continues.

Family photo May 2013 at Show Low Lake