Monday, December 9, 2013

Taking an active stance for Justina Pelletier!

The director of MitoAction has decided to take a very active stance in helping Justina Pelletier. Cristiy Balcells has been on a panel for the Glen Beck radio show. She has written an article for The Blaze as well. Mrs. Balcells is working hard to help share education and alert the world to the Pelletier's story.

What can you and I do to assist MitoAction and the Pelletier family? SHARE this letter and chime in with LOADS of support. It would be the perfect time for us ALL to send respectful personal letters to Boston Children's Hospital.

The following was posted on FB by Cristy Balcells:

Sent to the CEO of Boston Children's Hospital:

Mrs. Fenwick,

As the executive director of a national mitochondrial disease advocacy organization and a patient advocate, I implore you to investigate the treatment of Justina Pelletier who is inpatient as a psychiatric patient at your hospital.

Justina has been diagnosed with mitochondrial disease from one of the most well-respected physicians in the United States for mitochondrial medicine. She has a positive family history and her previous medical history has adequate documentation that the symptoms which she experiences are validated by laboratory and diagnostic testing.
Upon admission to your hospital in April 2012, Justina's mitochondrial disease diagnosis was disputed and she was diagnosed with somatoform disorder. Indeed, many patients with mitochondrial disorder are mistakenly diagnosed with a psychiatric condition such as somatoform disorder, especially since a hallmark characteristic of mitochondrial disease is symptoms in multiple organ systems with an unpredictable presentation.

Please take a moment to review the following:

Biopsychosoc Med. 2008 Feb 22;2:7. doi: 10.1186/1751-0759-2-7.

Symptoms of somatization as a rapid screening tool for mitochondrial dysfunction in depression.
Gardner A, Boles RG.
Division of Medical Genetics and the Saban Research Institute, Childrens Hospital Los Angeles, CA 90027, USA.
Abstract AIMS:

Somatic symptomatology is common in depression, and is often attributed to the Freudian-inspired concept of "somatization". While the same somatic symptoms and depression are common in mitochondrial disease, in cases with concurrent mood symptoms the diagnosis of a mitochondrial disorder and related therapy are typically delayed for many years. A short screening tool that can identify patients with depression at high risk for having underlying mitochondrial dysfunction is presented.

Six items of the Karolinska Scales of Personality (KSP) were found to differentiate among 21 chronically-depressed Swedish subjects with low versus normal muscle ATP production rates. A screening tool consisting of the six KSP questions was validated in the relatives of American genetics clinic patients, including in 24 matrilineal relatives in families with maternally inherited mitochondrial disease and in 30 control relatives.

Among the depressed Swedish patients, the screening tool was positive in 13/14 with low and 1/7 with normal mitochondrial function (P = 0.0003). Applied to the American relatives of patients, the screening tool was positive in 13/24 matrilineal relatives and in 1/30 control relatives (P = 2 x 10-5).

Our preliminary data suggest that a small number of specific somatic-related questions can be constructed into a valid screening tool for cases at high risk for having a component of energy metabolism in their pathogenesis.
As you are surely aware, the family in question has documentation that every test, every procedure and every medication was requested by a board-certified physician. In fact, Ms. Fenwick, I earnestly ask you to consider that the plight of this family is one faced by many families across the country when their disease is misunderstood.

On behalf of the mitochondrial disease community, I am asking you to employ common sense and investigate the details surrounding this case. Upon doing so, you will find that since this child's mitochondrial disease treatment regimen was removed in April of 2013, she has dramatically decompensated. The patient is weaker than she has ever been before. Further, despite being under the care of a team of physicians in your hospital for a number of months, she is not "better". Despite being removed from the care of her attentive and loving family, her disease state has not "reversed" but has progressed.

The lack of a guardian in litem to care for this child is equally distressing. This patient has experienced an absolute absence of a consistent adult whom she could trust and who could care for her. There are volumes of research on broken parental bonds and the tragic impact which they have on children of all ages, especially when the child is chronically ill.

Ms. Fenwick, please know that the entire mitochondrial disease community is standing strong behind this family and that we are prepared to continue to take a public position to actively support this and ALL patients and families with mitochondrial disease. I am certainly available to you as a resource to help you understand the many complexities of this disease and the challenges which our patients face.

Cristy Balcells RN MSN
Cristy Balcells RN MSN, Exec Director
Mitochondrial Disease Action Committee
PO Box 51474
Boston MA 02205
1-888-MITOACTION (888-648-6228

**Reminder MitoAction is an organization started by a mom advocating to help her child deeply affected by mito and other that need a voice. Please stop in and send a message of encouragement on the MitoAction FB page. Also if you intend to send a letter yourself please let them know so the support can be openly viewed by MitoAction and I hope Justina's family though they cannot say anything because of a gag order.

Wednesday, September 18, 2013

Adult Care for Mitochondrial Disease is a Work in Progress

The care for mitochondrial disease for decades has been child focused. We have better treatments,  and better testing we have a large community of mito patients that are adults. What is an adult to do to get proper care for a highly specialized disease?

If you are a pediatric patient that is transitioning from your children specialist ask their opinion. Have your pediatric specialist call ahead and talk with the new doctor. Be sure to have all medical records transferred to your new doctors. I highly recommend you get copies for yourself as well. That way you have a hard copy in YOUR hands in case it is needed in the future.

You are a parent of a child diagnosed with mitochondrial disease. Suddenly all those odd medical problems make sense. The picture of a life time of infections, moments of extreme exhaustion, or muscle weakness, etc make sense. It can take your breath away to have answers. It can also be incredibly daunting to realize you have mito as well as your child.

You were doing fine until you began losing your vision, hearing, an infection left you with extreme weakness, a stroke... so many ways to get here but it feels like one day you were an adult working, and making a life then suddenly you became a person with a progressive disease. You feel sick and it has become so hard to keep your life balanced.

You are in charge of your care!

Finding a Primary Care Physician (PCP) is the first step. Then work your way out from there.

Getting a team of medical professionals that is willing to talk to each other is key. I always look for a specialist that is willing to be educated about mito and the newest tests, or how this disease affects me specifically. When you have a team that is willing to listen and learn from one another you can get high quality care in a timely manner.

For adults this may mean you have to go to several centers of excellence like Cleveland Clinic, Mayo Clinic, or NIH then have those 'super' specialists direct your local specialist. How does this work in real life??

I live in West Virginia. Just far enough away from Pittsburgh, Cleveland Clinic, or NIH to use them for acute and ongoing care. What I can do is go once a year for a couple of days of intense testing and LOTS of appointments. Then get reports from those 'super' specialists used to dealing with mitochondrial disease. I make sure the specialist writes recommendations that are for ME and MY condition. Then I able to show my local drs the reports. I also strongly encourage my local doctors to call the 'super' specialists when the reports come in rather than wait until I have an acute issue.

Even with all that preparation adult health care for mitochondrial disease patients is a work in progress. This week, Mitochondrial Disease Awareness Week is a HUGE step forward!

Tuesday, September 17, 2013

Wish Granting Organizations

Many don't know that if you have a diagnosis of mitochondrial disease or even if you are suspected (given strong clinical problems)  you qualify for a wish. Many of these organizations do not base whether or not to give a wish upon the diagnosis. They base upon whether or not a doctor believes the problem will be life long and life altering.

*I tried to be sure all these were wish organizations in good standing. I encourage you to do your own research to be certain before giving over personal information.

National Wish Organizations
  • Believe In Tomorrow National Children's Foundation
    Our programs and services help children with life-threatening illnesses believe in hope, joy and the promise of tomorrow.  Our foundation is dedicated to improving the quality of life for critically ill children and their families through three unique programs. Serving over 38,000 children each year, we have become a national leader in pediatric support services that help to ease pain, reduce loneliness and bring joy to children throughout their treatment process.
  • Dream Factory
    The Dream Factory grants dreams to children diagnosed with critical or chronic illnesses who are 3 through 18 years of age.
  • The Granted Wish Foundation
    It's purpose is "To provide wish fulfillment to disabled, disadvantaged and deserving individuals and families." The foundation is not just for young or terminally ill; it is for anyone who deserves a wish!
  • HopeKids
    Provides ongoing events & activities and a powerful, unique support community for children with cancer and other life-threatening medical conditions.  
  • Jason's Dreams For Kids
    The organization is devoted to granting wishes to children diagnosed with life-threatening illnesses. Bringing a little happiness and putting a few smiles on these children's faces is our goal - and hopefully, their parents faces, too!
  • Kids Wish Network
    Kids Wish Network is a nonprofit charitable organization whose sole mission is to grant wishes to children with life-threatening illnesses. We're always looking for ways to provide unique services for sick children and their families that they are not likely to find anywhere else. Kids Wish Network has developed a funeral assistance program to assist the families of "our kids" who have passed away.
  • Make-a-Wish Foundation of America
    This organization which serves all 50 states, Guam, and Puerto Rico grants wishes to children in the United States with terminal illnesses or life-threatening medical conditions that create the probability the children will not survive beyond their 18th year.
  • Wishing Well Foundation USA
    The Wishing Well Foundation will consider the wish of any child with a life threatening illness from ages 3 to 18. The Wishing Well Foundation receives referrals from doctors, nurses, and people just like you! Many of the wishes are for trips to theme parks or a special day with a special someone . . . perhaps a celebrity or hero. The wish can be most complex or very simple.

Regional (United States)
  • A Kid Again - Ohio
    Provides continuing support and lasting memories for children and adolescents with life threatening illness and their families.
  • Carolina Sunshine For Children - South Carolina
    Provides a ray of sunshine for South Carolina children with life-threatening illnesses. When a wish comes true, a child's beaming smile can be a positive, lasting memory for families going through difficult times.
  • Dream Come True—Pennsylvania
    Dream Come True seeks to fulfill the dreams of children who are seriously, chronically, and terminally ill and reside in the greater Lehigh Valley area of Pennsylvania.
  • Dreams Come True - Northeast Florida and Southeast Georgia
    Provides wishes for children battling life-threatening illnesses in Northeast Florida and Southeast Georgia.  All children between the ages of two and a half and eighteen who have been diagnosed with a life-threatening illness and either live or are treated in Northeast Florida or Southeast Georgia, including Shands Gainesville, are eligible for a dreams. Children must be referred by their physician and have all activities approved.
  • Dream Factory of GKC - Greater Kansas City
    Grants wishes to seriously or chronically ill children aged 3 to 18 who live in the greater Kansas City area.
  • Hang On to the Dream Foundation - Michigan  If you are a kid 17 years of age or younger who is a positive role model for other kids, we may feature you on Fox 2 Detroit as well as present you with needed items, equipment, opportunities or finances that will help you to "Hang On to the Dream!"
  • Happiness Unlimited - New Jersey
  • A unique, one-of-a-kind, wish-fulfillment program for adults with cancer.
  • High Hopes Foundation of New Hampshire, Inc. - New Hampshire Dedicated to granting the wishes of New Hampshire’s severely and chronically ill children between the ages of 3 and 18.
  • Hopes & Dreams Foundation of Oklahoma - Oklahoma A non-profit, volunteer organization which was founded to inspire children who have terminal illnesses, life-threatening medical conditions, or are physically challenged. The main goal of HOPES and DREAMS is to enrich the lives of the children in our foundation by sending them, as often as possible to events in the State of Oklahoma. These events are choosen for our children by our children! HOPES and DREAMS works hard to get tickets, passes, autographed pictures, and personal contacts for our children.
  • Indiana Children's Wish Foundation - Indiana
    The Indiana Children's Wish Fund grants the wishes of special Indiana Children who suffer from a life-threatening illness. These children are between the ages of 3-18.
  • Kidd's Kids — Texas
    This is a non profit organization within KHKS-FM Radio which each year takes children with special medical needs on the trip of a lifetime to Walt Disney World! Children selected for the Kidd's Kids trip are between the ages of 5 and 11, suffer from a chronic, terminal, or traumatic illness, reside in the Dallas/Fort Worth area, and demonstrate a financial need.
  • The Marty Lyons Foundation
    Established to fulfill the special wishes of children aged three to seventeen years old, who have been diagnosed as having a terminal or life threatening illness by providing and arranging special wish requests. The principal office is in New York, but the Foundation also operates chapters in New Jersey, New York, Massachusetts, Connecticut, Maryland, Pennsylvania, South Carolina, Georgia and Florida.
  • A Special Wish Foundation, Inc. - Mainly Ohio, Indiana, and Chicago
    This organization's mission is to enhance the quality of life for those children/adolescents (under 20 years of age) who have a life-threatening or terminal disorder by allowing their special wish to become reality. It has 21 chapters throughout the U.S. as well as a chapter in Moscow, Russia.
  • Sunshine Foundation- NJ, DE, MN, FL, PA, WV Sunshine Foundation's sole purpose is to answer the dreams of chronically ill, seriously ill, physically challenged and abused children ages three to eighteen, whose families cannot fulfill their requests due to financial strain that the child's illness may cause.
  • Wishing Star—Idaho and Eastern Washington State
    This organization grants wishes to children age 3-19 with life threatening diseases in Idaho and Eastern Washington State.
  • Wish Upon a Star—California
    Our assistance is available to children in the state of California. Most often children are referred to our program by medical staff working in the major Children's and University Hospitals. A statewide network of law enforcement personnel and community volunteers allows Wish Upon A Star to operate quickly, regardless of a child's location or circumstance.
  • A Wish With Wings—Texas
    This organization grants wishes to children with life-threatening or catastrophic illness between the ages of 3 and 17, who reside or receive treatment in the State of Texas or out of State with Board Members' approval.
International & Country Specific
  • Children's Wish Foundation International
    Children's Wish will fulfill the favorite wish for any child not expected to reach age 18. Each wish, truly the child's own, must be completed while the child is healthy enough to fully enjoy it. The immediate family is included in the wish fulfillment, so that the child and family will share in the experience and create happy memories together.
  • Starlight Children's Foundation
    This organization is dedicated to brightening the lives of seriously ill children through wish granting and state-of-the-art in-hospital entertainment. It has a network of chapters located in the United States, the United Kingdom, Australia, and Canada.
  • Make-a-Wish Foundation of India
    This chapter which serves those in India helps children suffering from life threatening diseases realize their heart's desire.
  • Make a Wish Foundation of Australia
    To grant the Wishes of children with life-threatening medical conditions to enrich the human experience with hope, strength and joy.
  • Sunshine Foundation of Canada—Canada This foundation allows children with a severe physical disability or life-threatening illness to have a chance to see their once-in-a-lifetime dream come true.
  • Tender Wishes—Canada This organization grants wishes to children between the ages of 2 and 18, who have a life-threatening illness, and reside in the Regional Municipality of Niagara.
  • Children's Wish- Canada The Children's Wish Foundation of Canada works with the community to provide children living with high-risk, life threatening illnesses the opportunity to realize their most heartfelt wish.
  • Cleaning for Cancer: making a difference at home
    This newly formed nonprofit offers free professional housecleaning services to improve the lives of women undergoing treatment for breast cancer. Canada
United Kingdom
  • Angelwish - Join us and grant a holiday or birthday wish to a child living with Chronic Illness in the United States or United Kingdom through our special wishlists or contribute to the life sustaining needs of children overseas.
  • Dial-a-Dream—United Kingdom
    This organization strives to make Dreams a reality for children suffering a life threatening or debilitating illness, and thereby enabling them to continue their fight against their illness.
  • Round Table Children's Wish - United Kingdom
    Grant Wishes to children suffering from life-threatening illnesses.
  • Hopes & Dreams - United Kingdom
    Has a goal to fulfill the dreams of terminally and chronically ill children and young adults whether it be meeting their favorite singer or band, going to see their chosen football team, and meeting the players, going to see a show, visiting a theme park etc.
  • When You Wish Upon A Star—United Kingdom
    Aims to fulfill the wishes of children with life threatening and terminal illnesses.
  • Willow Foundation—United Kingdom
    A charity dedicated to improving the quality of life of seriously ill adults aged 16 to 40 by organising and funding a ‘special day’ of their choice. Special days give young people with life-threatening or life-limiting conditions a chance to escape the difficulties of their daily routine and share quality time with family and friends while pursuing an activity they can all enjoy.
Adult-Focused Wish Organizations
  • Adult Wish Foundation
    To grant “reasonable” wishes to adults; 18 and above with life-threatening illnesses; while supporting surviving family members. To enrich their lives with respect, love, and hope.
  • Deliver the Dream
    For families - when a child develops a life-threatening disease, or a parent is diagnosed with a debilitating illness
  • Dream Foundation
    Dream Foundation is a national wish-granting organization who grants the wishes of terminally ill adults aged 18 to 65.
  • Never Too Late
    Staffed by a passionate group of volunteers who donate their time and talents to help make the dreams and wishes of the forgotten elderly and terminally ill adults come true.
  • Twilight Wish Foundation
    Has a mission is to honor and enrich the lives of deserving seniors through wish granting celebrations connecting Generations.
  • Veteran's Dream Foundation To help fund non profit organizations in support of veteran related projects throughout the United States; To assist disabled veterans and their qualifying dependentslfamily members;To assist and provide transitional and permanent housing for homeless and at risk veterans;To enrich the lives of all veterans and their families
  • Willow Foundation—United Kingdom
    A charity dedicated to improving the quality of life of seriously ill adults aged 16 to 40 by organizing and funding a ‘special day’ of their choice. Special days give young people with life-threatening or life-limiting conditions a chance to escape the difficulties of their daily routine and share quality time with family and friends while pursuing an activity they can all enjoy.
  • Sunshine Kids- The Sunshine Kids provides a variety of programs and events, free of charge, for kids who are receiving cancer treatments in hospitals across North America.
  • Bryan's Dream Foundation - Brain Tumor  The purpose of the foundation is to fulfill Bryan's dream by providing hope and support to children with brain tumors as well as their families and to ensure that no child's life is ended prematurely.
  • Silver Lining Foundation - Cancer
    Among other things, the Silver Lining Foundation provides wishes for children with cancer while their are receiving treatment.

Wish Specific
Hunting / Fishing / Outdoor Adventures
  • Benefit4Kids
    Primary mission to grant the outdoor wishes of children with life threatening and life limiting illnesses.
  • Buckmaster's Life Hunts
    Life Hunts grants hunting trips to critically ill and extremely disabled children and young adults up to age 21.
  • Camp Sunshine
    Supports children with life threatening illnesses and their families. The camp has the distinction of being the only program in the nation whose mission is to address the impact of a life threatening illness on every member of the immediate family—the ill child, the parents, and the siblings. Since its inception, Camp Sunshine has provided a haven for over 30,000 individuals from diverse cultural backgrounds.
  • Catch-A-Dream
    Grants once-in-a-lifetime outdoor experiences to children 18 years old or younger who have a life-threatening illness. Any child, 18 years old or younger, who is a U.S. or Canadian citizen, has a qualifying physician- certified life-threatening illness, and has not had another hunting or fishing grant, is eligible for consideration.
  • Hunt Of A Lifetime
    A nonprofit organization with a mission to grant hunting & fishing adventures and dreams for children age 21 and under, who have been diagnosed with life threatening illnesses. We are doing what we can to make a difference in their life, a dream come true.
  • Outdoor Dream Foundation
    A non-profit organization that grants outdoor adventures to children who have been diagnosed with terminal or life-threatening illnesses.
  • United Special Sportsmen Alliance
    A non-profit Christian organization that routinely coordinates with other caring organizations worldwide in fulfilling a dream wish. If you know of a child [or adult] who is terminally ill or disabled and would like to go on a FREE DREAM HUNT, FISHING TRIP AND CAMPING OR CANOEING please contact U.S.S.A and we will try to fulfill their “Dream Wish.” Working with deer, elk, turkey, bear, pheasant farms, and property owners as well as, preserves and ranches has made our hunting, fishing trips and outdoor adventures known nationwide.
Room Makeovers
  • Dream a Little Dream
    The purpose of Dream A Little Dream was to create a fantasy bedroom for a child who has been affected by an illness, disease, or unfortunate family event.
  • Room to Dream Foundation
    The mission of the Room to Dream Foundation is to create healing environments in hospitals, communities, and homes for children and adolescents who are facing chronic illnesses. As they recuperate and recover, our hope is that their renovated spaces will improve their quality of life, promote strength, imagination, self-worth, and aid in their recovery processes.
  • Ride a Wave
    Has a mission is to give children with special needs the chance to feel the thrill of riding a wave and experience a safe, fun-filled day at the beach, whether they are physically, developmentally or economically challenged.
  • Give Kids the World
    This organization is not a wish-granting organization in the strictest sense. Rather, it works with other wish foundations to send children with life threatening illnesses to the Central Florida area. Every child that comes to Give Kids The World does so with the sponsorship of another wish granting organization. It has served children from all 50 states and more than 45 countries.  
  • Cleaning for A Reason Foundation Offers free professional housecleaning services to improve the lives of women undergoing treatment for cancer.
The majority of these wish organizations list was put together by a wonderful mito mom J.K. Thank You!!!

Monday, September 16, 2013

How do you 'get' mitochondrial disease?

Just to be clear I am not a doctor. I am a parent and patient with mitochondrial disease. I list the resources from where I got the following information at the end of the post. To the best of my knowledge and current medical knowledge this is how mitochondrial disease is passed along through families.


-You can get it through your mother's genetics. Your mother passes down the mtDNA and mtRNA for the mitochondrial organelle.
-You can get it through the genetic passage dominant DNA or recessive DNA a combination of both parents.
-You can get it through a spontaneous mutation when the sperm and egg first met and began to form a baby.
-There are also rare cases of medication so deeply affected a person it causes a medication version of mitochondrial disease.
Here is a good lesson on DNA.

Sources: (mito 101 pdf) (about mito section)