Help us get a mitochondrial disease specialist in Arizona!

Becky and I have learned about the possibility of having a mitochondrial disease specialist come to Arizona on a part time basis.  Not only is there this possibility, but it just so happens that the specialist that may come is, John Shoffner, MD, the doctor we see in Atlanta, GA.  This is colosal!  This is progress and a major step for us and the many other families who suffer from this disease.  I am always amazed that so few clinicians  and non-clinical people know about these diseases.  

Seth with Becky.  One of the many of his hospital stays

In order to make this happen, we need help.  We need people to write letters to Phoenix Children's Hospital.  You don't have to have mitochondrial disease to write a letter.  You can write this letter because you are our friends, or because you have read our story, or know another family who suffers from this disease.

I am encouraging anyone and everyone to read the letter Becky and I wrote to Phoenix Children's Hospital (which I have included in this post) and write an email or a letter to the contacts I have listed below.  We have chosen to send our letter my snail mail.  I get so many junk emails that I'm not sure what to read.  Thank you for considering this request.  

Joseph P. Remitera, Director Practice Operations

Phoenix Children's Hospital

1919 E. Thomas Rd. | Phoenix, AZ 85016

p (602) 933-0060 | f (602) 546-5243

www.phoenixchildrens.com | jremitera@phoenixchildrens.com

Robert L. Meyer, President and Chief Executive Officer

Phoenix Children's Hospital

1919 E. Thomas Rd. | Phoenix, AZ 85016

July 5, 2013

Joseph P. Remitera

Director Practice Operations

Phoenix Children’s Hospital

1919 E. Thomas Road

Phoenix, AZ  85016

Dear Mr. Remitera,

The purpose of this letter is to help you understand the need for a mitochondrial disease specialist.  We have recently spoken with John Shoffner, M.D. who is a mitochondrial disease specialist in Atlanta, GA., who told us there is a possibility that he may join Phoenix Children's Hospital on a part-time basis.  We wanted to write you personally and let you know how important this would be and that there is a dire need for a specialist in mitochondrial medicine.

We would like to give you some background about our family.  Three of our four children have mitochondrial disease.  This disease is extremely complicated and requires multiple specialist with a mitochondrial disease specialist leading the team.  Unfortunately, Arizona does not have one. 

In an effort to help you understand the importance and need for this type of a specialist, we would like to give you a summary of our experience at Phoenix Children's Hospital.  In December 2008, our two year old son, Seth, started to develop multiple problems in a different body systems.  He had developmental delays, chronic metabolic acidosis, severe problems with ambulating and coordination, cardiac problems, speech delay, vision problems, and "cysts" on his brain MRI.  It was thought that Seth would benefit from being admitted to a multidisciplinary hospital to try and find out what was wrong and to get a diagnosis.

Seth was admitted to PCH in the winter of 2009.  We will not go into the details of every problem we had (we sent Mr. Meyer, CEO of PCH, a letter a few years ago about the details of our experience), but Seth's brain MRI was misread and he was misdiagnosed.  The outward appearance of Seth was a happy two-year-old little boy.  The image of a happy little boy was the picture the doctors appeared to only see, but inside, a terrible, fatal, neurodegenerative disease process called Leigh’s syndrome was beginning.   We were delayed over 2 years in getting a diagnosis and treatment for our son because of the unacceptable experience we had at PCH.

I am a physician assistant and have worked and trained in hospitals, including children's hospitals.  I was amazed how he was treated and must say that the attention given to his case by the doctors was not what I expected and was sub-standard. 

Seth's condition continued to deteriorate and we were referred to the Neurogenetics Clinic at St. Joseph's Hospital where we met Vinodh Narayanan, MD.  Dr. Narayanan saved Seth's life!  He told us that there was (and always was) a serious neurodegenerative condition causing Seth's problems.  Dr. Narayanan was highly suspicious of mitochondrial disease and referred us to Dr. John Shoffner, in Atlanta, GA.   We travel to Atlanta, GA  two times a year to see Dr. Shoffner. 

Some facts about mitochondrial disease from umdf.org and foundmm.org:

• One in 2,500 people have mitochondrial disease (children and adults)
• As many as 2 million people in the United States suffer from mitochondrial disease
• About one in 4,000 children in the United States will develop mitochondrial disease by the age of 10 years.
• 1,000 to 4,000 children per year in the United Sates are born with a type of mitochondrial disease.
• Mitochondrial disease has no cure and no effective treatment.  
• Mitochondrial dysfunction is related to other diseases such as Autism, Parkinson's, Alzheimer's, Lou Gehrig's, muscular dystrophy, type II diabetes, and many others

Some facts and statements about PCH as listed on phoenixchildrens.com:

• In 2012  "Phoenix Children’s had 19,286 inpatient admissions; 78,360 visits to the Emergency Department; 197,280 outpatient visits; and 15,424 surgical procedures.”
• "Phoenix Children's offers world-class care in over 70 sub-specialty fields of pediatric medicine."
• "Phoenix Children's is one of the ten largest children's hospitals in the country and provides specialty and sub-specialty inpatient, outpatient, trauma, and emergency care to patients throughout Arizona and other Southwestern states."
• "Phoenix Children’s Hospital is Arizona’s only licensed children’s hospital and among the largest freestanding facilities of its kind in the country."

You can do the math and realize that there are a lot of patients that are admitted to PCH that have mitochondrial disease.   There are a lot of patients in this state who suffer from this disease and are either misdiagnosed or haven't been diagnosed yet.  It has been my experience both professionally as a physician assistant and our experiences as parents of children with mitochondrial disease that the majority of health care providers have never heard of mitochondrial disease let alone know how to diagnose and treat this complex disease.  

Given the prevalence of this disease, taking into consideration Arizona's population in 2012 was 6.5 million, and considering all the above statements and facts the need for a mitochondrial disease specialist in a hospital as big as PCH is not only important, but greatly needed.  We have NO where to go but to other hospitals that have a mitochondrial disease specialist on staff.  Having Dr. Shoffner on staff at PCH would be a significant way to change this.  

We want to use our unacceptable experience with PCH not for spite or to point fingers, but as a learning experience, where all can grow and help provide the needed change so it doesn't happen again.  Unfortunately, our family’s story of being mis-diagnosed is not the only one.  Our hope is that PCH will see our experience as a way to better serve the children and families who suffer from this disease.

It is our hope that Phoenix Children's Hospital will see the importance and need for a mitochondrial disease specialist and will continue to move forward as expeditiously as possible the credentialing process and any other logistical matters so Dr. John Shoffner can come to PCH and help families like ours and hundreds of others who lack access to care and have to travel out of state for services.

Sincerely,

Newell & Rebecca Belnap

cc:  Robert L. Meyer

President and Chief Executive Officer, Phoenix Children's Hospital