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