One of The Best Days of My Life "Spencer"

 
 Hello, I am Dean Linne, or to Spencer Coach Linne.  I've known Spencer for several years now coaching him in soccer.  I've always been impressed with his athletic ability and his kindness.

Photo with Spencer  after a soccer tournament October 2014
in Tucson, AZ

  I was there when Newell had to pull Spencer from the track meet.  From that time on, I always asked about Spencer and how he was doing hoping for the day he might be able to return.

 The next year when I was coaching high school soccer it was Spencer's freshman year he wasn't at tryouts.

  I was so disappointed for him because I knew what soccer meant to him, and what his athletic ability would mean to his teammates who missed him.

  I went through that soccer season thinking about him and that he may not return. At the start of the next soccer season which was Spencer's Sophomore year. I was walking up to the boys gathered there for the tryouts, counting the kids and noticing who was there. Then standing in the crowd of  kids was Spencer!!

 I was so happy to see him and be able to talk with and see him there to play soccer again. That day brought tears to my eyes and every time I think about it or talk about it.  I feel that emotion coming back to me as I write this post.

That was one of the best days of my life to see that young man being able to do something again that he loved so much!!

 I wish the best for the Belnap family and I'm grateful for the opportunity I've had to know and coach Spencer.

 Thank you for reading this.

 Dean W Linne

Darien's Story--A Story of Hope

My name is Danae Cessna and my husband is Jeff Cessna.  I was asked to be a guest author on Newell Belnap’s blog and The Belnap Foundation's blog.   We have a beautiful 9 year old daughter named Darien, and this is her story…so far. 

Darien

When our daughter, Darien, was two years old, we noticed delays in her motor skill progression, speech and gait.  Her walk and run started becoming somewhat awkward, as if she was having problems with her balance.  We were quietly concerned but felt reassured by pediatricians that she was just a bit “delayed” developmentally and would probably progress fine.  But after a few more months, it was recommended by a close friend that we might have her screened by the AZ special educational services to see if perhaps she might qualify for some early pre-school entrance to help give her a head start. 

When Darien finally started Kindergarten, she was much worse in terms of poor balance, clumsiness, easily fatigued, unsteady gait, slow and slurred speech, and focusing.  She started in a regular Kindergarten class but a few weeks later we were called into the school to meet and discuss the possibility of placing Darien in a class for kids with special needs – where she could receive more one on one care and have an aid to assist her all day long when needed.

We didn’t like to think of her as “special needs” because we just didn’t want to believe that Darien might fall into any category that wasn’t perfectly “normal” and healthy.  We grew up with our stereotypes and small minded expectations but suddenly we were starting to learn about a whole other world.  A place where kids had some serious challenges and needed much more attention and learning tools than we were ever aware of.

Bailey, the service dog at Blue Ridge Elementary for children with disabilities

In January of 2011, when Darien was 5 and ½, we took her to Phoenix Children’s Hospital to have some tests done.  She met with a neurologist who recommended her over to the Genetics department.  After hours of interviews with the doctor, an MRI, blood panels and general tests, we were told that Darien most likely had a rare genetic condition called Aicardi-Goutieres syndrome and that her basal ganglia was calcifying.  This condition did not have a specific treatment and it was unknown to the doctor how long she would live because according to the current literature, most people with this disorder do not survive past childhood.  Jeff and I left the hospital with Darien to go home.   We felt like we both had been hit by a semi truck.  The shock and pain of that moment will stay with us forever.  We tried hard to keep it together for Darien’s sake and focus on the NOW of her but we were so devastated and it was difficult.

Several months later, we were asked to come back and meet with the doctor to go over some additional blood tests and the DNA analysis he had ordered for her at our last meeting.  We were then told that she did NOT have Aicardi-Goutieres syndrome (WHAT??) and might have a different condition involving her inability to process certain proteins.  Well, now we were just baffled.  A little angry but relieved at the same time.  The problem that what was causing her to illness and regression was still unclear.  The doctor wanted to run another DNA panel to confirm before giving us any other information.  In the meantime, Darien went on a no-protein diet with some horrible tasting supplements and vitamins.   We held our breath waiting for the next “diagnosis”.   Some months later we met with the doctor at Phoenix Children’s again and were told that he had run all the tests he could think of but could find no clear diagnosis for her condition.  He took her off the no-protien diet because the DNA panel ruled that out.  We left that meeting with a final diagnosis of Familial idiopathic basal ganglia calcification.

  Genetics Home Reference: http://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification

Sydney and Darien enjoying the assembly

It was around this time when we both quit our jobs and moved up to Pinetop, Arizona in the White Mountains.   We needed a new start, a refocus and really just wanted to take Darien somewhere we could all breathe and have a little quiet.   Darien continued to go to school and do relatively well academically and thrived socially.  Everyone loves her and looks out for her during the school day and she loves her teachers ,  friends and resource classes in the special needs department. 

Some of Seth and Darien's special needs teachers and therapists at Blue Ridge Elementary

This spring (March 2014), I met Newell Belnap and two of his children, then 7 yr old Seth and Sydney age 18 at the elementary school.   We were both there picking up our children.  Little did either of us know that Seth and Darien were good friends.  They rode the same bus and had many special education and therapy sessions together.   

Seth & Darien April 2014

Seth & Darien embracing at the Fundraiser Assembly

Newell saw Darien and some of her obvious difficulties with fine and gross motor skills.   Newell approached me, introduced himself and informed me that Seth had a rare disease called Leigh’s syndrome.  He told me about his diagnostic odyssey and how everything changed when he met a pediatric neurogeneticist in Phoenix named Dr. Vinodh Narayanan.  He explained that Dr. Narayanan believed Seth had a form of mitochondrial disease and had referred his family to a specialist in Atlanta named Dr. Shoffner who confirmed the diagnosis of mitochondrial disease, specifically, Leigh’s disease.

After some email correspondence, we met with Newell and Becky Belnap at their home.  They told us that they had created The Belnap Foundation, a 501(c )(3) non-profit organization whose mission was to raise awareness and money for Mitochondrial and other rare genetic diseases.  We met with them  to discuss an upcoming fundraiser and assembly at Seth and Darien’s school to help raise awareness of rare diseases for the local elementary, middle and high schools. The assembly kicked off a “penny-war” fundraiser which was wildly successful! 

Seven of the eight heroes at Blue Ridge School fighting a rare genetic disease

Darien joined the other eight local kids with rare diseases in the assembly and had a great time. It was not only an awe-inspiring week of school-kids active involvement with a great cause, but their example helped prompt the rest of the local community to get involved and contribute to the fundraiser as well!  This fundraiser raised over $12,000 for children with rare genetic diseases.  It was the most successful fundraiser in the history of the school.

Dr. Phil Johnson sharing his experience with a rare disease as he speaks of his son Kyle who  died at an early age of an unknown rare disease

Presenting the HEROS to the Blue Ridge Student body who the students at Blue Ridge rallied to raise money for

We had more discussions with Newell and his wife Becky regarding their journey.  There was so much in common with our stories.  Overwhelming feelings of fear, uncertainty, hopelessness, and just appreciating every minute we have

with our children.  Newell and Becky told us that Seth’s prognosis was poor.  They told us about how devastating it was to hear that their sweet boy could live 6 months to 6 years.  This uncertainty is a parent’s worst nightmare.

Newell Belnap showing an MRI of a
patient's brain with mitochondrial disease

They then spoke about Dr. Narayanan and a study he was the principle investigator for, that was being done by a company in Phoenix called TGen (Translational Genomics Research Institute) at the Dorrance Center for Rare Childhood Disorders  This study was looking at children with a rare undiagnosed genetic disease.  They had been enrolled in this study since 2010.  Uncertainty and fear turned to hope on December 17^th, 2012 when Dr. Narayanan called Newell and told him they had found the gene that was causing mitochondrial disease in his family.  He then spoke of the next step to find possible treatments. 

We decided to take Darien to meet with Dr. Narayanan and see if he might have some ideas regarding her condition.  We didn’t have any expectations and were frankly a little wary at this point due to our past experience with mis-diagnoses.   Dr. Narayanan amazed us right from the start!  He took on Darien’s case right away and showed a level of expertise and compassion for her condition which brought me to tears immediately.  I had actually given up and was resigned to just live our lives as they were.  I didn’t think there was another option.  But Dr. Narayanan’s confidence in getting to the bottom of Darien’s mysterious condition was infectious.  Right away he ordered her whole Exome sequencing on Darien, me, and Jeff all courtesy of TGen!  He ordered several other tests including a CT scan,  spinal fluid, blood and urine analysis.   After getting back some of the test results he told us that Darien does NOT have basal ganglia calcification and most likely has a mitochondrial condition.  He is very hopeful that the Exome sequence will help pinpoint the specific gene causing the problem.

We don’t have the final answers yet (we have a few more months of waiting still), but like Dr. Narayanan, we are also looking forward to a positive outcome.  We have hope again and are very thankful to the Belnap family for their love and encouragement.  TGen and Dr. Narayanan are fantastic and we are so grateful to them for their knowledge and advancements in genetic research.  We know that without the help of The Belnap Foundation, we would not have answers for our precious daughter. 

Dr. Huentelman, Dr. Narayanan, and Dr. Craig posing with the Belnaps after discovering the gene causing mitochondrial disease in their family

Some details of our unwanted odyssey

Family Photo in 2008 as the odyssey begins (photo by paxmanphotography.com)

Ralph Waldo Emerson said:  "Life is a journey, not a destination."  Have you ever been on an extensive, ambiguous, indeterminate journey with no map or GPS, had car trouble or flight cancellations, been lost many times along the way, been given wrong directions, had no clear direction as to where your final destination is and how long it will take to get you there? 

We are the parents of 4 wonderful children.  By my standards, we are a normal family, and sometimes subnormal.  We have fun together and we work hard. One of our family's mottos is:  "The Belnaps can do hard things". We enjoy the outdoors and traveling to new places.

All seemed to be going well in our home until the fall of 2008.  An odyssey began after an uninvited guest entered into our lives.  Our destinations became hospitals and doctor's appointments, not soccer games, soccer camps, theme parks or water parks.  This odyssey has taken us physically and electronically to several specialists of the specialists in Amsterdam, Minnesota, San Diego, Phoenix, Atlanta, Indianapolis, and many of the large teaching hospitals around the world.

The road less traveled leading to the Grand Tetons 

Something was very wrong with our little boy and NOBODY could tell us what it was.  Some healthcare professionals even said there was nothing wrong with him.  His condition continued to deteriorate and we began scrambling to find out why.  We were racing against time and an unknown opponent that was mysterious, cunning, baffling, and powerful. 

Seth always was delayed with his speech, but gradually this worsened and he also developed coordination problems and would fall frequently.  Suddenly in the Fall of 2008, Seth developed involuntary rapid movements of his right eye. 

MRIs were ordered to rule out a tumor on his brain.  When you as a parent are told that there is a possibility of a tumor on your child's brain, all sorts of feelings go through your own brain.  As we look back, sometimes we wish our opponent was something like a tumor.  Why?  Cancer is common, well funded, and well studied with treatment options available.

MRI of Seth's brain showing white matter lesions

One Sunday morning in 2009, he fell off a chair at the kitchen table.  He hit his head so hard on the wood floor we thought he would loose consciousness.  After making sure he was ok, we had enough and immediately went to a sporting goods store and bought him a helmet.  He wore this helmet constantly for the next several months.  He fell so often and hurt himself that multiple times, he required sutures.  One night, he fell while trying to get out of bed.  He was bleeding from his head again.  It was 2 in the morning and once again, he needed stitches.  We’ve experienced some dark days and nights during this journey.  It was already dark and we didn’t think it could get darker, but this night was…”a night to remember.”

Seth wearing his bike helmet (and a GoPro)

I do not like to suture, give shots, or provide any health care to my children.  I just want to be their dad.  It was 2 AM and we were so financially burdened with medical bills that an ER visit was out of the question.  Becky held Seth in her arms and was trying to stop the bleeding.  I did what was necessary and injected his beautiful face with medicine to anesthetize the wound.  

Seth was crying, no daddy, no daddy.  I was crying, acutely because once again Seth was hurt.  I was crying chronically because as a health care provider, I knew Seth had a terrible unknown disease that appeared would end his life prematurely. 

By this time, the entire family was awake.  We all tried to console and comfort Seth but to no avail.  We did what was required and held him down as I repaired the laceration on his face.  It is difficult to describe the feelings I had that night.  Our little boy was dying.  Our little boy needed the laceration on his face repaired.  Two problems that I wish I did not have to deal with.

In 2010, Seth was diagnosed with Leigh’s Syndrome, a severe and often fatal form of Mitochondrial Disease and Cerebral Folate Deficiency (CFD).  We thought the journey would only be with one of our children, but, as the odyssey continued, our oldest daughter was diagnosed with mitochondrial disease and CFD shortly after Seth.  Then, in the Spring of 2012, we were broadsided with our oldest son who had been completely healthy and extremely athletic his entire life, who also was diagnosed with an unknown type of mitochondrial disease. 

June 2013 Show Low Lake
(photo by paxmanphotography.com)

As this odyssey unfolded, we were amazed how many healthcare providers and people in general knew NOTHING about mitochondrial disease (including ourselves).  We were amazed that there are really no effective treatments.  We were amazed how connected mitochondrial disease is to other more common diseases.

We have had generous support in many ways from so many people.  We could not have made this journey on our own.  Our faith in God has been strengthened.  We rely on the enabling power of grace which is powerful and available to all who suffer in any way.    

Saying someone has mitochondrial disease is like saying someone has cancer.  There are numerous types of cancer.  There are also numerous types of mitochondrial diseases, some that are so new and rare that don’t even have a name.  Mitochondrial diseases are extremely complex and there is NO current treatment.  Currently, the only known treatment is the “mito cocktail” which consists of a variety of vitamins, minerals, and coenzymes.  This type of treatment is NOT acceptable.

Treating patients with the “mito cocktail” is like treating everyone who has cancer with a dose of radiation aimed at the entire body or giving a cancer patient a general chemotherapy drug and expecting it to cure the cancer.  Science is lightyears away from that modality of cancer treatment.  

1 in 2,500 people have mitochondrial disease.  Mitochondrial dysfunction has been linked to common diseases like Parkinson’s, Alzheimers, diabetes, epilepsy, autism, Asperger’s, Lou Gehrig’s disease (ALS), type II diabetes, heart disease, chronic fatigue, migraine headaches, and some cancers (including breast cancer), fibromyalgia, cerebral palsy, Huntington’s disease, developmental delays, Cardiomyopathy, Muscular Dystrophy, and atypical learning disabilities.  The list gets longer as more research is done.

Our lives have been permanently and drastically changed forever because of this disease.  We eat, sleep, travel, drink, think mitochondrial disease.  In 2012, we took our story to a different level and went public.  Prior to this, our story was only known to our family and friends.  The decision to tell our story to the public was simple:  we realized that our journey could benefit others.  We have found that sharing your pain, your deepest fears, your anxiety, your hope, your hopelessness, your sorrow, and your happy moments with others is therapeutic, even though it's difficult to disclose.  There can be no truer happiness than being in the service of others.  Our family, with the help of others, plan to take our fight against mitochondrial disease to a higher level.  We are in the planing stages of creating something big.  More details to come.

Our desire is to expedite the course from the onset of symptoms to a diagnosis.  This can only be done if awareness is increased among the general population and health care professionals.  For months and years, uncertainty and fear filled our hearts and minds.  We are on a different level now that the genes have been identified in our children and believe that a real treatment is within reach.

Mitochondrial disease directly effects me and my family.  If you look at how connected the mitochondria is to other diseases this effects more than the 1 in 2,500 people who have primary mitochondrial disease.  Take a look at your circle of friends and family and you will see this disease also effects you.  Join with us as we take our journey to the world.  Join with us as we not only fight for our friends and family who are effected by mitochondrial disease, but as we fight for others.  Together, we can make a difference.

Why I want to find a cure for Mitochondrial Disease!

My story for this blog began about 20 years ago.  I was fulfilling my life long dream of teaching medicine at a postgraduate level in the country of my birth, Pakistan.   I was teaching as a Fulbright Scholar at the Aga Khan University in Karachi.   I set up postgraduate medical training for physicians in Emergency Medicine and Family Medicine with the vision of changing the health care of Pakistan.  I knew the medical needs in Pakistan well as I spoke a few of the languages, grew up close to a mission hospital and had volunteered at many hospitals.  

Kyle at Karachi beach

The only hard part of my Fulbright experience in Pakistan was my youngest son Kyle was often sick.   He was evaluated for this at Northwestern Children's Hospital in Chicago.  They did a lot of testing but did not have many answers.  We were told he was healthy enough and it was safe for him to return to Pakistan.  Three weeks before my two year Fulbright experience was to end Kyle got very sick.  I had him admitted to the hospital I taught at and remember how hard it was to get him into the ICU.  I had come half way around the world to teach physicians and now I found myself having to do much of his care. 

Phil Johnson, MD Assistant
Professor in gown before
graduation ceremony

I called the American consulate physician I had helped on many cases in the American consulate community in Karachi and Islamabad.  He heard my situation and wanted to help me transfer Kyle by air ambulance to the London Infectious Disease Hospital.  Though as a Fulbright Scholar I had some consulate privileges, I was not of the pay grade that the US government would help in any way.   The cost of the flight was $100,000.  This was out of the question for a teaching physician making about $10/hr on my Fulbright salary.  

I felt so alone and must say this was the darkest day of my life.   I had flown so many sick children out of the Indian Reservation Hospital in Whiteriver, Arizona down to Phoenix in the four years I worked at Whiteriver.   I was on the other side of the world now and had no way to fly my son to the hospital he needed.  I held his hand and was with him every second.  I will never forget his beautiful blue eyes,his blond hair, him not wanting the oxygen tube on and holding his gentle hand. He would look at me with assurance because his dad was with him as he always had been. He was given good strong antibiotics and had the best care possible in the ICU at the Aga Khan Hospital.  It wasn’t long before Kyle passed away.  Despite the fact that he was on a ventilator, in my mind's eye I remember hearing him say bye bye while waving his hand to me. He was then gone.

Kyle with brother Collin

There can be no harder thing for a father and a physician to go through than watch your son die despite doing everything possible to save his life.  There was nothing easy about wearing that stethoscope,  putting on my scrubs and beginning in the ER after returning from Pakistan.   After all, my job was saving lives.  For months and months I would often leave the room after taking care of a child and go to the call room to cry.  I would come out, however, determined to provide the absolute best care for that child.  I would feel Kyle with me when I took care of children.  To this day I feel Kyle with me and the patient I am caring for when I care for sick children.  My heart is at peace when I save that child's life and place them on a helicopter to the tertiary hospital in Phoenix.

Kyle with his Nanny Parveen, Nathan, Eric,Collin, Ferrah.  We lived as one big family

Though I had taught the first Pediatric Advanced Life Support (PALS) course in the history of Pakistan and saved hundreds of children’s lives in Pakistan, I could not bring myself to teach PALS again in the US.   After a few years, however, I told myself I must walk through that door again and have now taught PALS for 15 years.

Some of the beautiful people I served in Pakistan

Newell was a PA I had interacted with as he often sent patients to me from his urgent care to my ER.  When he told me last year he had interest in working part time in the ER, we met to talk.   Newell told me the story of his kids with Mitochondrial disease and he was not sure how long Seth would be with us.  This spoke to the core of my being as a father and a physician. 

I remember looking at Newell’s eyes after his story and I seemed to feel inside of him.  I told him I had lost a son and wanted to do something for him, his wife and children.  It felt like I was back in that ICU trying to make phone calls to transfer my child to London.

 I do not know if Kyle had Mitochondrial Disease.  I do know he didn’t fight off infection normally and his specialists did not know why. Technology has changed in the last 20 years.  We knew very little about the human genome then.  We have now mapped it.  Newell’s walk became my walk, as I have walked there.  We met and talked about ways we could raise awareness for Mitochondrial disease and ways which we can raise money for this cause.   

We only really have about 10% knowledge about the human body, disease, and ways of preventing disease.  I have always loved knowledge, especially knowledge about the human body.   It has always amazed me how it works.  I see the end result of poor diet and habits every day in my Emergency Room.  I also see miraculous recoveries almost daily. My reading of medicine tells me genetics are not entirely fixed.   We can do something about it. I shared my reading with Newell and was so excited to hear how Seth was thriving despite what the literature says about his prognosis.  Read the Biology of Belief,  the Holographic Universe and one step further…. Healing Words.  

I spent time with Newell and Becky in December and let them know I wanted to become more involved in their personal cause.  I remember looking at these two wonderful beautiful people and telling them I would do anything I could to make each moment they have with their children magical and special.  Each moment I had with Kyle was magical and special.  I believe together we can find a cure.  

The problem of Mitochondrial disease is huge.  It reaches to diseases like Parkinson’s disease, Alzheimer’s disease, Autism and so much more.  My mother has end stage Parkinson’s disease.  She has been bed bound for 10 years.  My brother Bill takes care of her 24/7.  She has been largely unable to swallow normally for 7 years and has been fed by a feeding tube.  What a beautiful woman.  She gave her life to work more than 30 years as a nurse in a missionary hospital in the deserts of Pakistan.  As I write this she has been admitted to a hospital again.  I will see her soon and hold her hand in the hospital and rub her back.  You see each moment we have is to be treasured.  

Connie and Larry Johnson,  Missionaries in Pakistan for 30 years.   Connie worked as a nurse.

Let’s cure Mitochondrial disease.  Let’s prevent and cure Parkinson’s disease.  Let’s prevent and cure Alzheimer’s disease.  Let’s prevent and cure Autism.   Join with me in supporting the Belnaps and their cause of raising awareness and money for this disease that has roots scattered in so many common diseases.

Phil Johnson, MD

ER Medical Director Summit Regional Medical Center

Fulbright Scholar

Assistant Professor

Arizona State Trauma Advisory Board

Kyle, brother Nathan, brother Collin