The Walk

December 15, 2012 Road to our home Show Low, AZ

December 13th, 2012 we loaded the kids in the car for another trip to Phoenix.  My brother Kevin and his wife had no idea when they moved here 1 year ago that they would have such frequent house guests.  My kids get a long well with their kids and love going to see their cousins.  This makes the trips a lot easier.

We had our final scheduled doctor's appointment for the year.  Seth was scheduled for testing on his optic nerve and retina at Phoenix Children's Hospital on December 14th.  His pediatric ophthalmologist, Dr. Leverant has consistently stated his optic nerve on his right eye looks pale.  She wanted further testing.  He had an ERG (electrorinography) and VEP (visual evoked potential).  Essentially, Seth had to sit completely still with electrodes attached to his scalp and face while bright lights were flashed into his eyes.

 

He was such a trooper.  He did remarkably well considering he usually can't sit still longer than a few minutes.  He engaged in conversation with the technician  and by the end of the testing had completely enamored her.  His smile, kindness, complimentary spirit and happiness had won her over.  Seth told the technician how much he "loved his aunt Catherine" and how much he "loved going to her house", spoke about their cat, sweeping her floors and her Christmas trees.  Seth then asked her: "are you ready for Christmas?"  It was almost 3 hours of this sweetness.  I have told Becky that sometimes I am envious that she gets to be with him so much and experience his sweet personality.

I volunteered to take Seth to the hospital and wait with him.  The other option was to take my other kids Christmas shopping at the mall.  This was a no brainer for me.  The results were normal.    After the testing was done, Seth and I went and had lunch in the hospital cafeteira.  I'm not sure which one I prefer--McDonald's Happy Meal or hospital food.  While we were there, Seth made sure he was able to speak with as many people possible--interviewing doctors, nurses, and other patients.  

  

The following day was the highly anticipated Arizona Mito Walk.  The weather in Phoenix was terrible, but we had so many people come out and support us.  Becky and I were deeply moved by those who took the time to support us.  There were 40 people that signed up to walk with our team.    This journey can be a lonely cold walk down a road and can elicit fear in me.   In reality, what this Walk and response to our video and blog has done has made us realize that we are not alone.  We have so many good people that have helped us along and who are willing to support us in different ways.

So even though th AZ Mito Walk is over, our family will continue to walk down these roads that we have not ventured on before, knowing so many of you are with us!

AZ Mito Walk:  Team Mito Warriors 

Article About Belnap Family in TGen Today

A few months ago, Dr. Narayanan asked us if we would share our story with TGen as they launched a new foundation called Center for Rare Childhood Disorders.  http://www.c4rcd.org   TGen is the company that is studying our family's genome searching for the mutated genes causing Mitochondrial Disease.

We said we would love to help in any way possible. In November, our family traveled again to Phoenix to be interviewed and photographed. We spent the afternoon touring the company, doing the interview, and getting our pictures taken.

The article was published recently in TGen Today.  I have grown to love this company! It has taken the data from the Human Genome Project and applied it to saving lives. I encourage anyone to take a look at this remarkable company. I have decided to post the article on my blog.

http://public.tgen.org/tgen.org/downloads/tgen_today/TGenToday_C4RCD.pdf

Let's Walk!

If a pictures says a thousand words, then a video says...a story.

Seth showing how old he is with his fingers 

I write this post as Seth sits in my lap recovering from croup and after about 45 minutes of respiratory distress last night.  He is feeble today, but improving.  We had a scare last night similar to when he choked on a coin as I wrote about in my post Premonition and Perturbation.

I will briefly mention this scare because it relates to my overall goal of raising awareness.  Last night, Becky, Sydney, Seth, and I were driving one of Sydney's friends home around 10pm.  We were, in what most people would call "the middle of nowhere" Concho, AZ, and at least 30 minutes from any hospital when suddenly, Seth started having a difficult time breathing.  He has had a cold for the past few days and yesterday, he started to loose his voice and cough.  After his symptoms started, I took him outside of the car to allow him to breath some cold air.  This helped some but not enough.  I got back in the car and I drove, faster than I should have, to the Emergency Room in Show Low, AZ.

As I explained to the triage nurse, my son has Leigh's Disease, a type of Mitochondrial Disease...  These upper airway restrictive illnesses can kill any child, but my son is more susceptible.  He already struggles for oxygen.

"Well, his oxygen saturation is 97%."  Yes, but look at his respiratory rate!  Look at his intercostal and supraclavicular retractions!  Look how fatigued and pale he looks!  Listen, I'm a physician assistant and I know my son!  Can you give him some oxygen!  It was amazing how soon he started acting like Seth again after he received oxygen.

Just ask any parents who have children with Mitochondrial Disease who have had to take their kids to the Emergency Room.  Many times, us parents end up educating the medical staff about Mitochondrial Disease.

Luckily, I knew the doctors and the physician assistant who were on shift at the emergency department.  After briefly explaining his Leigh like Mitochondrial Disease to them, their response was immediately turned to action: "can he have dexamethasone?"  Yes.  He can have all the medications used to treat croup.  "We'll get x-rays of his chest and soft tissue of the neck.  Is there anything else we should be doing?"

I am not faulting or pointing fingers.  I don't do that.  The hospital in Show Low is an excellent hospital.  The triage nurse was a great nurse doing her job.  I have one objective: to raise awareness of MITOCHONDRIAL DISEASE!!!  Had I gone up to the front window of any ER and said "My son is having an asthma attack" I would not have had to fight as much for him.

Seth & Becky in the emergency room

It's Time to Walk!!!

I am very thankful for everyone who has watched our video called Our Mitochondrial Disease Journey that I posted on YouTube.  As of today, there have been over 750 views.

The day after I posted this video, our family was sitting at the dinner table discussing the day and the video.  Sierra was making fun of herself and everyone else.  The picture that I have as a thumbnail for the video and is shown below says a thousand words.  Sierra stated how the 2 of the 5 pictures of her in the video were not very favorable towards her.  "My eyes are closed and my knee is out in one picture.  In the other picture, I'm flexing my muscles...with that big rock (Half Dome) in the background".

Sydney looks as if she either has sand down her pants from Seth and his shovel or was just stung by a jellyfish.  Seth, well if you know Seth, he is just as happy sitting in his car seat for the 10 hour drive to Monterey, California as he is playing in the sand.  Joy, elation, jubilant are just some of the words to describe him.

The best was Sierra making fun of Spencer.  "Spencer is standing there in front of everyone, flexing his muscles, showing off, and he has sand all over him.  He even has sand on his face and in his teeth" (actually, just his braces, not really sand).

Beaches of Monterey, California Summer 2012

Spencer's comeback line was classic Spencer. "Well Sierra, I just finished making out with a mermaid".  Quick and comical which reminds me of his Grandpa Warnick and Becky's and my friend from high school Paul Smith.

Seth was walking around the house for the first 2 days after I posted the video watching it on my iPad multiple times like he was watching a Barney video (maybe that is why there is over 700 views).  Sydney, in her innocent way, was just happy to be on the internet.  Spencer was not very happy to have so much attention brought to himself.

I am excited that so many people have watched this video and have looked at this blog.  Last month, over 600 people looked at my blog.  I am not looking for people to feel sorry for me and my family. That provides no benefit.  I am looking to raise awareness of a disease that is more common than childhood cancer!  I want better treatment options and I want to find a cure.  My hope is that maybe a few more people are now aware of this disease; aware of how it effects people and families.  Aware that there are faces to the thousands of people who suffer from Mitochondrial Disease.

This disease has transformed my life in a way that is not optimal.  My thought processes, daily routine, future plans all revolve around this disease.  So...let's walk!  It is time for me to turn my sadness of how this disease has transformed my life and turn those stagnant emotions into action.  Let's walk for those who can't!  Let's walk in memory of those who have died from this disease.  Yes, people of Arizona and around the world, let's walk!  I'm tired of hearing story after story of this disease killing children.  I'm sick of this disease being underfunded and under recognized for what it is and how it is inter-related to so many other diseases. Let's walk for those...damn it...let's just walk!

Arizona Mito Walk

December 15, 2012 in Phoenix, Arizona

WWW.AZMITOWALK.COM

Our Mitochondrial Disease Journey (video)

Becky and I have sent this video link to many of our family and friends.  I am an introvert, so sending things out like I've done and writing this blog is atypical for me.  It's amazing what you will do when three of your four children have a disease that is incurable and has poor treatment options.  We are their advocates!


Also, we sent this out to try and gain support for the Arizona Mito Walk which is being held in Phoenix, AZ on December 15, 2012.  www.azmitowalk.com

Mitochondrial Disease Research

DNA Switch Shows Promise Against Genetic Disease - WSJ.com

Seth Update--Gratitude

Everyone's favorite uncle--Uncle Lynn.  Top of mountains at Snowbird, Utah July 2011

It has been six months since our family was thrown into uncharted waters again with Spencer's neurological events leading to his Mitochondrial Disease diagnosis.  I know this because it is General Conference again and we are heading to my brother's house in Phoenix to be with them again.  There were two talks from that conference that had a significant impact on my life and are worth mentioning:

Mountains to Climb by Henry Eyring
http://www.lds.org/general-conference/2012/04/mountains-to-climb?lang=eng&query=mountains+climb

Special Lessons by Ronald Rasband
http://www.lds.org/general-conference/2012/04/special-lessons?lang=eng

I have stumbled, fallen on my face, tripped, gone down the wrong trail, forgotten proper gear, been cold and tired as I have tried to climb the mountains over the last 6 months.  I look back and I honestly don't know how I have made it through the last 6 months.  I look forward to spending this weekend with my brother and his family again.  My parents will also be there.  Family is a major reason I have been able to move forward on this journey.

Last week was Mitochondrial Disease Awareness Week.  It is estimated that 1 in 3,000 children will develop some form of Mitochondrial Disease by the age of 10.  Symptoms vary dramatically!  Just look at my 3 children and the symptoms they present with.

I want to thank all of you who participated in any way during this important week for our family and those families out there similar to ours.  In a small but important way, you have helped us carry the burden of 3 children with this chronic, non-treatable, non-curable, unpredictable disease called Mitochondrial Disease.  By watching videos I posted, reading stories I posted, visiting my Facebook page, looking at the pictures of my children, reading this blog, sharing this blog, thinking of our family, praying for our family you have helped us raise awareness of this terrible disease.

As I read stories, watched videos, and did research on this disease, I came upon an alarming statistic:  Children who are diagnosed with Leigh's Disease rarely live into their teenage years.  Seth started having signs and symptoms when he was 2.5 years old.  The statistic is absolutely disconcerting causing fear and ambivalence.  I can't sit and focus on this statistic and the uncertainty of this disease or I will go absolutely crazy.

Seth and Becky pre-MRI

Seth had another MRI last week under general anesthesia.  Becky and I were discussing how much we hate these.  Knowing the statistic I mentioned above, I had multiple thoughts running through my mind.  Will the disease have progressed to other areas of his brain?  Will the current lesions enlarge or decrease in size?  Will he be okay during anesthesia?

It has been one year since his last MRI.  September 16, 2011 was one of the happiest days of my life.  I will never forget that day. My friend, Dr. Berges, called me back to the radiology reading room and showed me the MRI and the significant improvement.  Because of the improvement in the last MRI, I was very interested to find out what has happened over this past year.  Seth's lactic acid levels in his blood have remained very high ever since he was first tested.  Despite this, Seth has made leaps and bounds with his speech and cognitive abilities.  He still struggles with fine and gross motor skills.

While we were waiting for the MRI, a hospital employee came up to us who was a complete stranger and said: "You have the cutest little boy I think I have ever seen.  He is so adorable".  Those who know Seth will agree with this woman.  This act of kindness by this stranger brought me back to reality and away from the fear of this disease.

Seth had now been under anesthesia for over an hour.  I brought as many things as I could to distract me and help pass the time.  Finally, he was done now done and  we were in the recovery room.  The only time this little boy is unhappy is when he wakes up from general anesthesia.  It's like he has a hangover.  Dr. Berges called me to come back to the radiology reading room.  He said the lesions had mildly decreased in the frontal lobes and minimal decrease in the basal ganglia.  No new lesions.  This was great news!

Seth and Becky Post MRI

Post MRI

Those of you who have followed this blog/journey will know that there have been a few people, other than family, that have literally been with us from the beginning.  It is worth mentioning that Dr. Berges and his wife have been with us.  They are the type of people referred to in Ronald Rasband talk "Special Lessons" who "just jump in..."


As we were preparing to leave, another hospital employee who works in radiology, came up to me told me about her son who went 13 years with an undiagnosed neurodegenerative condition.  He was finally diagnosed at age 13 with Olivopontocerebellar Degeneration.  He lived 3 more years and passed away.  She  then said to me: take good care of your little boy.  I was so touched by her words.  I could feel her compassion, concern, and sympathy.  She knew what I was going through and we connected in a way that you can only connect if you have similar circumstances.  We embraced and said good bye. Those few minutes with this compassionate woman had a profound effect on me.  Thank you Nikki!


So, as we were taking Seth home, I also took home a message to watch out for those who are suffering.  To watch out for those who's burdens seem unbearable and never ending.  Take time to say something truthful and meaningful.  Take time to show an expression of love. Take time to provide service.  In Isaiah 53:4 it reads: "Surely he hath borne our griefs and carried our sorrows..."  To the two employees at Summit Regional Medical Center and many others who have done this for us, thank you.

Seth September 2012 waiting for the bus.  Seth helped me paint the deck behind him in this photo.

I'll close this post with a plug for an event called Arizona Mito Walk that is scheduled for December 15, 2012 to raise money and awareness for Mitochondrial Disease.  Our family team name is the Belnap Mito Warriors.

www.azmitowalk.com

"...The locals call this section of the trail Heaven on Earth."

"Heaven on Earth"  South Boundary Trail 164

Last week, I took the week off for some much needed personal and professional CME (continuing medical education).  As a part of the personal CME, I went mountain biking.  I like to think I am a connoisseur of mountain biking trails and will go to great lengths to find and ride great trails.  South Boundary (Trail 164) in Taos was rated the number one mountain bike trail in New Mexico by several sources.  Taos, NM--here I come.

I stopped by a local bike shop (another one of my favorite things to do) called Gear Up in Taos.   This was a first class bike shop!  Friendly, helpful courteous, kind, cheerful...They must have been Boy Scouts in their earlier days.  One of the owners spent several minutes explaining this trail, gave directions, a map, and then said something that stuck in my mind:  "This section of the trail is beautiful.  The locals call this section of the trail Heaven on Earth."

The trail was 22 miles long and I needed someone to shuttle me to the top to get the full 22 miles.  Rey (one of the owners) recommended just riding the section "Heaven on Earth".  It was too late in the day to ride, so I planned for an early morning start.  I texted Becky, told her my plans.  She texted back: "Be safe and smart".  I had told her how excited I was to ride this trail.  She knows of my passion to find and ride new trails. 

The section "Heaven on Earth" was about a 6 mile climb to elevation around 10,600 feet.  I put on some Pink Floyd and started to ride.  It must have been in the low 50s high 40s.  Thankfully, I brought some cold weather gear.  As I was climbing, many thoughts flew through my mind.

"Heaven on Earth"  what a description.  This is not a description that you casually call something.  I was wondering if "the locals" call this place "Heaven on Earth" because of its beauty, because of the altitude, or because of the state of mind that it places you in.

For me, Heaven is a place, but also a state of mind.  A state of mind that is pure happiness.  I began to realize how infrequent I have felt this state of mind over the past several months.  As I examined my life over the past several months, I began to realize that I have had moments of "heaven on earth".   Seth's 6th birthday--a day we never thought we'd see.  The day (about 1 year ago) Dr. Berges pulled me back into the MRI reading room to look at Seth's brain MRI which showed significant improvement; having Becky in my life who is...well, newel post is a good literal and metaphorical description of her;  listening to Spencer speak in Church about Mountains to Climb;  listening to Piano recitals and choir concerts; the list could go on and on.   I also realized my tendency to look at the Hell on Earth more than Heaven on Earth.

As I approached the summit, I began to become fatigued.  My legs felt weak and were burning.  My chest felt like it was about to explode.  My mind was fatigued and I was loosing motivation to continue my ride.   It was during this time, I had an epiphany!

I was reminded of the first time Sydney experienced exercise intolerance.  It was on a hike in Utah to Stewart Falls during the Summer of 2010.  I was with Becky, my other kids, and my brother Kevin and his family.  Seth's diagnosis of Mitochondrial Disease was highly suspicious, but not confirmed.  She literally could not keep up with us.  I checked her heart rate and it was 170.  I knew at that point that something was wrong with Sydney (see post Our Journey to the Diagnosis for details).

Exercise intolerance, severe fatigue, muscle pain has happened to Sydney many times since then.  This past Summer we were walking a mile in one of the Giant Sequoia Groves in Yosemite National Park with her heart rate at 170, respirations 34, flushed skin, and severe fatigue.

I remembered last spring when she walked from school to my office which is less than a mile away in 75 degree weather.  She didn't make it to my office.  She was resting on the side of the road, overheated, flushed, dehydrated, breathing fast, muscles cramping, and severe fatigue.  As I picked her up in my Jeep, she said to me: "daddy, I couldn't walk any further.  My legs are hurting so bad and I am so thirsty".  My heart ached for her.

I was reminded of Seth and the how Dr. Narayanan had stated he had never seen lactic acid levels so high in someone's central nervous system.

I was reminded of Spencer and how shocking his diagnosis was and still is.  I recall Dr. Shoffner stating how high Spencer's lactic acid levels were and there really wasn't any other explanation other than mitochondrial disease.  I remembered how at the age of 6, he would beg to go mountain biking with me (I am so thankful I went with him). I remember one of our first mountain bike rides which was at Los Burros in the White Mountains.  A pang went through me to thinking the future is uncertain with all of my children.  

As I reminisced, which I frequently do when I ride, I looked down at my Garmin, my heart rate was 180.  My respiratory rate was very high and labored.  I was exhausted!  As exercise physiologists would say, I was at my lactate threshold.  My body could not get rid the of lactic acid any faster.

As I thought of my children and the lactic acid inside their bodies, I was motivated to continue on, in fact, I pushed harder until I became so nauseas, that I had to stop.  10, 600 feet.  Heaven on Earth?  Absolutely!

I rested for a few minutes, thought of my children who experience the dysfunction of their mitochondria every day.   I jumped back on my mountain bike determined to push my cellular energetics to their absolute limits.  I wanted to experience what my children experience on a daily basis.  

Now for some biochemistry.  My metabolic demand was so high that I could not keep up with the demand for oxygen.   Lactic acid  was accumulating at high levels in my blood which was causing my increased respiratory rate, changes in my cardiovascular system and in the end, I was experiencing fatigue.  My body could not get rid of the lactic acid fast enough so I became fatigued and had to slow down.  This is the normal process of cellular energetics which occurs inside the mitochondria in our cells.


Oxygen is needed by the body in the final step in our bodies long and complicated process of converting the food we eat to a usable energy source.  My lungs were soaking in every available oxygen molecule that was available--like a dry sponge soaking up water.  The problem was I was pushing so hard, that I couldn't get enough oxygen to my cells fast enough.  Because of this, my body was using both aerobic and anaerobic metabolism.

As I thought about my normal cellular energetics that were taking place in my mitochondria and the response that all of us have felt when we push ourselves physically to our maximum capabilities, I also thought of abnormal cellular energetics that were taking place inside Sydney, Seth, and Spencer.  I also thought of the thousands of other children and adults who have dysfunction with their cellular energetics inside their mitochondria.

My mind was so utterly consumed with this epiphany and how beautiful it was that I was relating with my children at some level that I forgot Becky's words from her text:  "Be safe and smart".

A large, wet Pinon Pine root came out of nowhere and was right in front of me.  Usually, a bunny hop is all it takes to avoid these dangers.  My mind was occupied with lactic acid and mitochondrial dysfunction that I couldn't do anything except...crash.  My front tire hit that root and I slid sideways until my back tire hit the root.  A forced rectal examination from a bike seat was the last thing I remember as I was catapulted over the handlebars onto the wet forest floor.  How stupid and unsafe I was riding.  At this point, I was alone and several miles away from help.   I laid there for several minutes recovering and wiping the blood and dirt off my legs.

Wet roots are to mt. bikes what wet cattle guards are to road  bikes--dangerous

I jumped back on the bike and finished the ride.  "Heaven on Earth?"  I agree with the "locals" in Taos, NM.  This trail was stunningly beautiful single track!  It also allowed me to relate in a way I never have before with my children and those who have Mitochondrial Disease.  

Then next time you are exercising at your max, remember Seth, Sydney, and Spencer.   Remember their dysfunctional mitochondrial.  Remember how underfunded this disease is yet how linked it it to so many other diseases.

Spencer Update--Hope



Spencer Yosemite National Park July 2012 Half Dome in background

                                                                                                              

What a whirlwind of a trip.  We departed Atlanta this morning and for the first time of our many departures from this city, I have some hope and optimism.  I have a renewed desire to continue the fight, and a renewed desire to continue the voyage wherever it may take us.

We met with Maureen Starnes, Dr. Shoffner's Nurse Practitioner, yesterday for Spencer's appointment.  She's an excellent clinician.  She's compassionate and intelligent.  She reviewed the data with us that confirmed his mitochondrial dysfunction/disease.  I questioned the reliability of the data, any false positives, sensitivity and specificity of the enzymology testing that was done looking for any possibility that the data could be flawed.  The instability of the various and multiple enzyme supercomplexes, family history, and extremely high lactic acid level all support the diagnosis.  She reported that Spencer's mitochondrial disease was caught extremely early before any major events or significant damage had occurred.  No one would have even checked him for this disease if two of his siblings didn't have mitochondrial disease.  This really is a blessing!  I am cautiously optimistic about Spencer.

Spencer still can not participate in sports at the level he is used to.  It is extremely important for him to stay active and to exercise.  We are going to do some experiments with him to see how much exercise he can tolerate.  We are going to have him exercise at moderate to intense levels and repeatedly check his plasma lactic acid levels and CPK levels (creatinine phosphokinase an enzyme that is found in the blood when muscles break down).  Spencer is doing ok with everything.  He is an amazing young man!

We were full of questions about his prognosis, nature of his particular disease, and how to best proceed.  She believes his diseases is completely different than Seth's and Sydney's Leigh's Disease.  We compared data between them.  She also stated she did not believe Spencer's disease would be progressive or degenerative with some qualifiers--that he takes care of himself and takes the supplements.  Another qualifier is that mitochondrial disease is unpredictable but all the evidence to date did not point to his disease being progressive.  This was a relief!  She stated we will watch him very closely.

She reported there has been an explosion of new data, new methods for searching for genes, and potential treatment options.  She again mentioned the clinical trial that our family will most likely participate in.  She stated that within the next couple of months, they will be able to analyze and sequence up to 800 of the mitochondrial genes.  This is amazing and exciting progress!  I am hopeful we will find the genes responsible within the next several months.

I remember the first time I learned about the cell back in 1995.  The human genome had not been sequenced at that time.  I was in biology 130 at BYU with Professor Gary Booth.  I was completely fascinated with the cell.  I was amazed how everything was so organized.  I remember learning about genetics.  How the genes were highly organized in the nucleus of the cell on large beautiful molecules called DNA (deoxyribonucleic acid).  When something needed to be replaced, fixed, or created again, it would all start with the genes in the nucleus of the cell.

The gene would be transcribed then translated then the protein would be made.  The protein would then be modified, packaged, and delivered to its appropriate place so it could help the cell function and survive.   I was so fascinated and almost obsessed with this beautiful process.  I felt like I was transforming into a true nerd.  

 I distinctly remember Professor Booth speaking about the mitochondria calling it "the powerhouse of the cell".  Learning how important this organelle was.  Learning that one of its main functions was to convert the food we eat to a usable energy source called ATP through a multistep process that started with Glycolysis then to the Kreb's Cycle, then to oxidative phosphorylation.   (I remember thinking that if I ever owned a bike shop, I'd call it "Kreb's Cycle Shop").

Little did I know, that my daughter Sydney who was around 1 year old at the time had major defects in her mitochondria.  Little did I know, my future children would all suffer with multiple mitochondrial problems all in the oxidative phosphorylation portion.  Little did I know that there were multiple genes that were defective and this would cause problems with the proteins that would be needed to convert the food they eat into the usable energy source called ATP.  As excited and fascinated as I was to learn about the cell, genetics, and cellular energetics, little did I know how much heartache and sorrow these would cause in the future.  Little did I know that this little organelle would change my life! 

Now time for a little Cell Biology lesson.  There are approximately 20,000 genes in the entire human genome (called nuclear genes).  These genes are located on chromosomes in the nucleus of the cell.  Chromosomes are made up of DNA.  You have 23 chromosomes from your mother and 23 from your father.  You also have DNA in your mitochondria.  This mitochondrial DNA is only from your mother and its function is to help build only a small portion of the mitochondria.  The majority of the genes to make the mitochondria come from the nuclear DNA not the mitochondrial DNA.

Over 1,000 of the 20,000 total nuclear genes are used to make mitochondria.  That is 5% of all our genes code for some protein used ONLY in the mitochondria.  This alone tells us how important mitochondria are, yet relatively, very little is known about it.

As I have mentioned in the past, I love Moby Dick.  I read this book during a time when I was dealing with a lot of shame and other problems in my life.  I'll use another Moby Dick analogy.   Searching for these genes has seemed analogous to Captain Ahab and his whaling boat the Pequod searching for Moby Dick in the vast thousands of miles of open oceans. 

We have two whaling boats (labs) looking for these genes.  None of the captains (our doctors) are like captain Ahab (although a lot of doctors are similar to him). One is a private company called T Gen located in Phoenix which has already looked at our whole family's genome and haven't found any mutations, deletions, etc.  Dr. Narayanan, who is overseeing the gene search at T Gen, told us they are looking again with newer technology.  Dr. Narayanan also said to us that Dr. Shoffner is one of the world's foremost experts in Mitochondrial Disease and to trust him and to listen to what he says.

I feel fortunate to have Dr. Shoffner as the other captain of the whaling boat.  I pray daily that these two captains of these whaling boats will be guided and directed and God willing help find a cure for our three children and thousands of others who suffer from this disease with NO cure and NO effective treatments.

With the news that Maureen told us on this trip, it's as if Captain Ahab and his whaling ship the Pequod have now gone from multiple shipmates all keeping watch for Moby Dick to using Sonar and GPS technology for the search and navigation.  It's as if we have gone from the use of whale fat for fuel to burn in the lighthouses to a cleaner, safer, alternative fuel source.  It's as if we may be beginning to abandon the whaling ships altogether. ( Maybe not quite yet.  I still like using this analogy).

My closing thoughts.  While Maureen stated there was an "explosion" of new developments within the last few months, I want a Big Bang type explosion for this disease.  Dysfunction of mitochondria has been linked not only to Primary Mitochondrial Disease (like my children have), but also to Alzheimer's Disease, diabetes, Autism, Parkinson's disease, fibromyalgia, chronic fatigue, just to name a few.  I want to do whatever I can to help.  What my role is, I don't fully know at this point other than being the best dad and husband I can be,  raising awareness of this disease and finding ways to increase funding for research.

Electron Microscopy of mitochondria (top) and drawing of mitochondria (bottom)

"Dad, I'm confused"

So we are off to Atlanta again.  I've lost track how many times we have made this trip.   It's a 3 hour drive to the airport and a 4 hour flight.  This trip is for Spencer.  The 3 other kids are home with Grandma and Grandpa Warnick.  Last night we had a pharmacology session with my in-laws as we explained the medications and supplements that are other children need to take.





I asked Spencer the other day how he was doing with the news of his confirmed diagnosis of Mitochondrial Disease.  He said:  "dad, I'm confused".  What do you say to that answer?

I wonder if these are his thoughts:   I'm headed back to Atlanta to hear what my future holds.  I'm going back to hear I have a disease that has no cure and no effective treatments.  I'm going back to Atlanta to learn more about this incurable disease--is it going to be progressive and degenerative?  How long will I live?   Do I have a form of mitochondrial disease that is mild and only cause bad headaches?   Essentially, I am headed for years of uncertainty, a lifetime of taking medications, and a lifetime of continuous doctor's appointments.

As a parent, I feel so powerless!  I wish I could take this from him and my other kids.  The emotional pain he is experiencing must be terrible.  It was so different with Sydney and Seth when they were diagnosed.  Sydney has poor insight and Seth's was congenital.  Spencer is so intelligent and athletic. 

  

As he transitions to his new life, Is there any place, anything that can provide solace during such a time of turmoil and uncertainty?  The only thing I know of is to look Heavenward.  As I've mentioned in prior postings, I have tried other sources of peace which are not true peace.  The issue I'm having at this time is I've NEVER dealt with anything like this ever before.  I have never been challenged so deeply and to the heart and soul of my existence.

         

Grove of Sequoia trees Yosemite National Park

Last Friday, I woke up around 11 and noticed the light was on in Spencer's room.  I went in to see what was going on, and found him sitting in bed reading his scriptures.  I gave him a goodnight hug, walked back to my room with tears in my eyes.  "...and a child shall lead them...".  I'm no scriptorian, but I know there is a scripture that says something like that.  He is an example to me and anyone reading this blog on how to handle adversity.  I feel so blessed to have a  son like him.

As 3 out of 4 of my children have been diagnosed with Mitochondrial Disease, my focus in life has changed dramatically over the past several months from passions in cycling and other forms of fitness to raising awareness and helping find a cure for Mitochondrial Disease.

Life on the Pequod...The Tempest is Raging on

"Call me Ishmael. Some years ago- never mind how long precisely- having little or no money in my purse, and nothing particular to interest me on shore, I thought I would sail about a little and see the watery part of the world. It is a way I have of driving off the spleen and regulating the circulation. Whenever I find myself growing grim about the mouth; whenever it is a damp, drizzly November in my soul; whenever I find myself involuntarily pausing before coffin warehouses, and bringing up the rear of every funeral I meet; and especially whenever my hypos get such an upper hand of me, that it requires a strong moral principle to prevent me from deliberately stepping into the street, and methodically knocking people's hats off- then, I account it high time to get to sea as soon as I can. This is my substitute for pistol and ball.   With a philosophical flourish Cato throws himself upon his sword; I quietly take to the ship. There is nothing surprising in this. If they but knew it, almost all men in their degree, some time or other, cherish very nearly the same feelings towards the ocean with me"

Those who have read Moby Dick will recall these words.  I love this book!  The reasons Ishmael decides to stop what he is doing in his life and go on his journey aboard the Pequod are similar to the way I have been feeling.  Unfortunately, I can't just get on a boat and sail away.

There have been many days during this journey over the last few years that are memorable in good and bad ways.  Monday, August 13th was one of those indelible days you hope you don't have to have again.  I was at work and received an unexpected email from Dr. Shoffner with Spencer's muscle biopsy results.  The results were conclusive that there is mitochondrial dysfunction.

 Although based on everything that was done so far and from our initial consult with Dr. Shoffner, it was pretty certain he had some form of mitochondrial disease, there was still a chance in my mind that he was OK. Those thoughts came to an abrupt and unexpected end Monday afternoon.  All I could do was weep!  I tried to put myself in his shoes and imagine how he was going to feel.  He had told me several times that he felt there was nothing wrong with him.  I thought to myself, now I have 3 children with mitochondrial disease!  The self-pity and why me were going crazy.

Mitochondrial disease is a complex and difficult diagnosis but it involves clinical manifestations, laboratory data from blood, urine, and cerebral spinal fluid, mitochondrial analysis from a  muscle biopsy, and most important and most difficult is finding the gene responsible for the dysfunction.

The following is a quote from Dr. Shoffner:  "Mitochondrial diseases encompass a broad range of phenotypes ranging from neurometabolic diseases to certain cancers.  Clinical manifestations range from a single affected tissue to multi-organ disorders.  Symptom onset can occur at essentially any age and has the following patterns: 1. congenital onset; 2. Slowly progressive onset at any time during life; 3. Acute/subacute onset at any time during life" 


When Becky, Seth, and I returned from his initial appointment with Dr. Shoffner in Atlanta in December 2010, we had a family meeting to discuss with our children what was going on with Seth and that his prognosis was uncertain and poor.  It just so happened that a couple of weeks prior to this, Seth made a boat at pre-school.  The boat was made from paper cut out from colored paper and glued onto a larger white piece of paper.  The boat had a large sail.  The boat is framed and on one of the walls of our home.  This boat is very special and has significant meaning to our family.  This boat is our Pequod and is shown below.




Our Symbolic Boat--The Pequod


During this family meeting, I explained to my children that our family is on a journey and our method of travel is a boat or a ship.  Becky and I are the co-captains of this ship and all of our children were shipmates with each of us having very important responsibilities.   Our map was the scriptures and our compass or GPS was our Heavenly Father.  Our destination was unknown.  Our length of travel was unknown. The difficulty of the journey was unknown.  The conditions of the sea were unknown.

The only knowns were we had love that bonded us together which was stronger than the fear of the unknown future and territory that was ahead.  We had a map that was 100% accurate and the compass/GPS was completely reliable.  If we were to utilize theses tools, we would arrive at our destination.

My children are familiar with many stories of ancient ship travel including Christopher Columbus, Jonah, Lehi, and Jesus.  Jesus, after a long day of service, got into a boat to cross to the other side of the Sea of Galilee.  As they were traveling across the water, Jesus slept on a "pillow" while there was a "great tempest".  The boat was filling up with water and Jesus was still crashed out on his pillow.  The disciples were fearful of their very life and woke Jesus up and asked him: "carest thou not that we perish".  He spoke saying: "peace be still" and suddenly "there was a great calm". Matt 8:23-27,  Mark 4:36-41 






Sea of Galilee 1999

It also so happened that at this time, I was reading Moby Dick, by Herman Melville.   This great American novel about the Pequod whaling ship and its captain, Captain Ahab, who's life is full of shame, anger, and fear as Ahab sets out on a whaling voyage to find and kill Moby Dick, the Great White Whale who in an earlier voyage  bit off Ahab's leg and destroyed his ship.  Ishmael, the narrator, decides to go on this voyage to deal with his own depression, shame and fear. 


Our current situation and the uncertainty of it and comparing it to a journey on the water seemed to fit. My children understood the analogy and were on board as mariners and shipmates.   

What was not expected on this maritime voyage at that time was my other children would also be affected by mitochondrial dysfunction.  As unpredictable as mitochondrial disease is, it was also a complete shock and unpredictable that my boy Spencer would come down with this disease.   Sadness, grief, sorrow, anguish, distress, fear, lamenting describe to some degree my feelings, but I really cannot find the words to express how I truly feel.  Spencer and I have been mountain biking together since he was 6.  We have back packed together multiple times.  Recently, we have started road cycling and trail running together.  To have that taken away from us now really hurts!  

Spencer Tour of White Mountains 2011 Podium Finish

It is bad enough to have one child with an illness that is chronic, incurable, and not treatable.  To have 3 children now effected with this insidious disease is inapprehensible.  Life has been a struggle each day.  As I look back over the last several months and the challenges we've all faced, one thing I can say is I have the best co-captain in this journey that you can get.  Not only is her physical appearance beautiful, but inside she is golden.  She is strong and determined where I am weak.  I thank God daily for Becky.  


The other unexpected part of this journey is Sydney.  She is turning 18 in 2 months and it has been recommended by several of her doctors and teachers that we obtain gaurdianship/conservatorship over her.  You never expect this and it is impossible to prepare yourself for this.  As you watch your children grow up, you fully expect when they turn 18 that they will be physically, mentally, emotionally, and spiritually prepared to live on their own.  You don't expect to hire an attorney to make your case before a judge that your daughter in incapable of making decisions for herself.  We have been to multiple family events this past summer.  It has been very difficult listening to her cousins and friends speak of their post-high school plans.  When we spoke with her about getting guardianship over her, for the first time, she had some insight into her illnesses.  She cried as Becky and I sat on her bed.  "Why can't I be normal, I hate this disease, I hate taking all these pills, I just want to be normal like the other girls my age".  What do you say to those questions?  We just held her, cried with her, and told her we loved her.




Pacific Ocean, Monterey, California July 2012

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As our family has been on our boat, I can relate to the feelings of the disciples--especially the feeling of fear. I long for the feelings of peace and calm. How does one experience these feelings when the tempest is relentless?  Oh how this most recent leg of our journey has been difficult. I wish the storm would pass and we could have some smooth sailing for awhile.  It seems that the post I wrote on Overcoming Adversity came from someone elses mind.

The text to the hymn "Master, the Tempest Is Raging" by Mary Ann Baker seem appropriate today. I have only included the second verse.  The third verse does not apply at this time--hopefully soon.

Master, the tempest is raging! the billows are tossing high!
The ski is o'ershadowed with blackness. No shelter or help is nigh.
Carest thou not that we perish? How canst thou lie asleep.
When each moment so madly is threatning. A grave in the angry deep.

Master, with anguish of spirit I bow in my grief today.
The depths of my sad heart are troubled. Oh, waken and save, I pray!
Torrents of sin and of anguish sweep o'er my sinking soul,
And I perish! I perish! dear Master. Oh, hasten and take control!