Monday, January 13, 2014

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


  1. Thank you for sharing Kyle's story Dr. Johnson. God Bless.

    1. So proud of you, my dear friend. Jim and I are deeply touched by your family's journey.You are a true teacher and healer. I am so grateful for our friendship and my treasured memories of working with you side by side in the ER.... Empowered by knowing that we never really walk alone. We constantly remind each other to be opened to Divine guidance. As you know,Jim and I are entertainers. We would be honored to be part of any benefit and be there for you in any way we can. Meanwhile I will surround you with healing light and love each day in my prayers. Blessings to you and yours in this amazing new year.

    2. As the founder of this blog, I want to thank you for kind words regarding Phil's story. Truly was inspiring. Phil is an amazing person. He has enabled me and given me the inspiration to take this fight against mitochondrial disease and all the related diseases to a different level. Thank you for your willingness to be a part of our cause. Phil and I will likely take you up on your offer at some point. God bless.

  2. We have only known each other a short time and more and more I appreciate you and the friendship you offer. Thank you for sharing this part of your life with me. Surely the very worst thing a parent can suffer is the loss of a child. I admire your courage to continue with your life and helping others the way you have. I feel we here in our community are blessed to have you with us. What can we do to be of help?

    1. We are starting a foundation for Mitochondrial disease. This Friday April 25th at the Jr High we will be doing an assembly and a fund raiser for children for rare diseases. It starts at 8 am. You are welcome to come.

  3. Thanks, P.J. for sharing your story. I know that it is one that was very hard to tell and to relive. You will surely touch other lives by your sharing as you have so many other lives through your dedication to teaching and to medicine. We have worked together many years and I have been quite fortunate to have met you and call you a friend. I will be forever grateful to you. Thank you for sharing and perhaps one day there will be more answers to curing these devastating, debilitating, and life changing/taking diseases

  4. People that read this may be interested in knowing how my mother is. When I first saw her she was breathing fast. She was working hard for each breath of life. I held her hand and suctioned her and told her I was with her. We thought she may pass but that internal part of us that choses something else was a part of my mom. Over the next few hours while holding her hand she improved. Most of her physicians were from India and Nepal and slowly she could speak some words in another language with them. Mom turned the corner in the next few hours and improved. I held her hand and rubbed her back and we talked. I told her, ' I love her mom" and she said, "I love you Phil." She improved and is at home now. As a physician, I wonder how we somehow feel we know so much about disease. Oh, there is so much more to know. Humans are build to move muscles correctly. We are supposed to be able to swallow. Lets work together look to the best minds to figure this out. Each moment is beautiful no matter how long one lives. Lets answer questions. Lets solve mitochondrial disease. Lets prevent and solve all these other diseases. Lets live this beautiful life process to the fullest. I brought this to all the patients I saw today and said a prayer for my mother and all my patients.

  5. Hats off to ur dedication n service despite of d difficulties uv gone through. Salut to ur efforts fr supporting d cause of such diseases. An Inspiration truely.