Friday, June 21, 2013

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

Thursday, June 13, 2013

Seth Laying an Egg

Seth was entertaining those in the waiting room at Dr. Shoffner's office in Atlanta.

Wednesday, June 12, 2013

Seth's 7th Birthday: Another Milestone

Seth's 7th Birthday Party (one happy boy)

Seth turned 7.  It is so amazing to see the progress he has made.  2 years ago, he had no idea what a birthday was.  He had no idea why he was opening presents and blowing out candles on a cake decorated with cars and animals.  We had no idea if this would ever change.  We had no idea if he would live to see his next birthday.

For the past few years, I have made an effort to write a post specifically related to his birthday.  This year, we will be in Atlanta, Georgia visiting Dr. Shoffner, our mitochondrial disease specialist, and his birthday will be when we are on the road, so we decided to celebrate his birthday before we left.

Atlanta Hartsfield International Airport

As I reminisce about his life and the highlights and low lights, I thought I would express some of these.  The progress he has made over the past year has been unbelievable.  Seth completed kindergarten for the second time and has the most amazing team of teachers and therapists at his school.  This year, he went from not knowing his colors, letters, and numbers to knowing all the letters, colors, and can count from 1 to 10.  He can now write his full name: Seth Parley Belnap.  He still has not learned to read, but he can say some of the sounds of the letters.  I can't thank his teachers, bus drivers, therapists enough.  They all have seemed to take a special interest in Seth, (it's hard not to do this).

Sky Harbor Airport

This is our 5th or 6th trip back to Atlanta to see Dr. Shoffner.  I will never forget that first trip and our first appointment when we heard the devastating news that Seth had Leigh's Syndrome, a fatal form of mitochondrial disease.  Dr. Shoffner told me and Becky something no parent wants to hear:  Seth could live 6 months or 6 years.  Then even more devastating news:  there was no effective treatment and no cure.  I will never forget how I felt that day.  I was overcome with sorrow for what would come.  I had no idea what would come.  If I did, I'd probably have been committed to a psychiatric hospital.  I could go on and on and lament about this and the injustices of life.  I have learned from my good wife who says: "I'm not going to be in mourning when Seth is sitting here right in front of me."  She lives this!  She is amazing!  That was 2.5 years ago.  Seth has made incredible progress.  Are the doctors wrong about his prognosis?  I don't know.  I hope so, but the truth is, Becky is right.  We need to live in the moment.  We need to enjoy each day, hour, minute we have with our children and the ones we love because we will never know when they will go home to the God who gave them life.

So a little more about this amazing child who has a gift to love those around him.  He has a gift to make you feel that love.  Seth is always happy.  He wakes up happy and goes to bed happy.  Seth seems to takes every opportunity to get to know people around him.  Sometimes, this can be very embarrassing and other times, it is very cute.  For example, on this trip as we were waiting in line at the airport in Phoenix to check in our luggage, there was a gentleman near us and Seth said:  "Why you have so dark skin?"  Becky and I were hoping this man did not hear Seth.  He was asking an honest question in an effort to get to know this man.  Seth has no guile, only love.  Seth loves to go to Walmart.  He did not get this genetic trait from me.  I hate going there.  I think he enjoys it because he can talk to so many people.

On the flight to Atlanta, as soon as we took off, Seth told me he had to go to the bathroom.  This is just my luck.  Usually, we know Seth has to pee when he starts to perform what we have called, "the pee dance".   This is a dance Seth does to essentially temporarily prevent him from peeing his pants.  He usually does this while he is standing.  He was performing a modified version of this dance while he is sitting with his seatbelt on.  This dance seems to be an involuntary dance and must be controlled by some aspect of the central nervous system.  This dance starts with lateral movements of his hips, followed my lifting his feet up and down as if he were marching in place.  Then, the hand goes toward the urethra to manually block the forceful evacuation of his bladder.  We have learned, when this dance starts, we usually have less than a minute to get him to a toilet, a tree, or a...well, I'd better not list all the places we have had to do emergency evacuations of his bladder.  

Well, he didn't pee his pants, and we didn't need to use the vomit bags (which Seth made sure all of us and the passengers near us had before we took off) as a urine container.  The sitting position must have helped pinch the urethra preventing him from peeing his pants.  I don't know what Seth drank at Unce Kevin's and Aunt Catherine's house that morning, but he had to pee 4 times on that flight.  He must have snuck several swigs from my diet Mountain Dew that morning.  On one of those bathroom trips, Seth also had to go number 2.  We were sitting in the row ahead of Becky, Sydney and Sierra.  After this event, Seth stood up in his seat and turned to his mommy and announced: "Mom, I'm a super pooper duper".

When we were getting into the elevator of our hotel, Seth said to another man riding in the elevator and a complete stranger: "I think that I forgot your name.  What's your name?"  The man, completely caught off gaurd, said: "Well, I think I forgot your name too?"  "What's your name again?"  Seth replied:  "My name is Seff."  All of us are used to him interviewing strangers, especially men with facial hair and cowboy hats.

We will be done with doctor's appointments, testing, and labs today.  From our appointments this trip, a lot of new information has been revealed about the genetic basis of his disease.  I will post about this in the future.  After our appointments are over, we are off to Washington D.C. and New York to play for a few days.  Seth, here's to another year.  What a great year it has been.  I love you.  You have taught me how to live and to love.  You have taught me to never give up the fight.

Seth riding his new present

Seth with his new cowboy hat