How long did it take to know you had mitochondrial disease?

How we found out we had mitochondrial disease is a loaded question. There were clear signs for years but medical science had not caught up with the disease.  My hubby and I after lots of prayer and thoughtful discussion with our mito drs decided that a muscle biopsy would not be in the best interest of the kids. The whole family was placed into the 'suspected mitochondrial disease' category.

So we waited…. 7 years.

During those year all sorts of other medical issues were ruled out. From the simple with an odd presentation to the weird genetic outliers. We went to see a second opinion at a huge hospital with a great reputation. He agreed that we just needed to treat what we saw and wait. After several years being followed by a mitochondrial specialist and with labs and presentation all pointing towards mito we were put into the 'probable mitochondrial disease' category.

So we waited.

Then we were told about a research opportunity that our family of 6 affected would be perfect for. We all had a cheek swab. It was one of the simplest test we had ever taken with no pain. Swabbed the inner cheek put the samples on dry ice and shipped them away to Philadelphia.

And we waited.

Then one hot June day while I was preparing to speak at a conference my husband called to say we got the results. ALL of us were so depleted in complex 1 and 3 that it was assured we had mitochondrial disease. The dr had us ALL redo our testing to be sure of the results.

And we waited.

The repeat tests were the same. We have mitochondrial disease. Finally a diagnosis. 

With those results in hand our mito specialist was able to order more specific results. We were immediately put into several research groups given the size of our family and the tight grouping of our symptoms.

Now for those that don’t know research testing is for the DOCTOR'S education not yours. If you are lucky you will get results but they come back on a scholars pace if at all. One test has been out 3 years.

Private testing which has blossomed into a lower cost patient based industry is much more responsive. We have had testing through private genetic labs and the testing was back rather quick, never as speedy as they told us, but still timely.

Here we sit 9 years later with a diagnosis of mitochondrial disease. No it does not have a specific name just a long tangled set of letters and numbers. Connections to specific complex deficiencies. And frankly questions attached.

The world of genetic testing is opening up and becoming a wonderful way to diagnosis and help us all dealing with genetic diseases. The down side is there is SO MUCH information flooding the doctors right now that it can be difficult to glean what is important and what is not hurting your health at this time.

Each person and family with mitochondrial disease has to travel this long arduous diagnostic period (at differing speeds.) You can be relegated to that horrible land of ‘probable or suspected mitochondrial disease.' Suspected means there are several other possible options that must be looked into but mito should not be ignored. Probable generally means everyone thinks you have mito but they just don’t have a specific lab or they are not willing to diagnosis on clinic means. That leaves you struggling every ER run with doctors that don’t believe you. That means that you don’t fall into research testing or treatments. I HATED that 7 years of limbo land.

While I did not want to have mito, we do. Since we do I want to be clearly diagnosed and now we know what we are fighting. Now I want the whole medical team from the kids to my adult team to work as hard as possible to keep us stable if not progressing!

Mito will never win. I choose to not allow that. It might hurt my body but it will never hurt our spirit!

Advocating for Your Medically Complicated Patient While Hospitalized

My family should just laminate a neon bright poster to put on the hospital door that says,

*WARNING* complicated patient

With that should come a list of directions:

• Read file FIRST
• Check all labs FIRST
• Dear Resident if you are in over your head, we understand, just own up to it rather than try to bluff through.
• This is a TEAM effort if you can't deal with that pass this room.
• Thank you!

Recently I was in the hospital and vlogged while there about how I was working to advocate for myself and my complicated medical situation.

Staying as healthy as possible is our goal! How do you help keep your hospitalizations on task and working toward a mutual goal of health and stability?

Making the Holiday's in the Hospital Bearable

I was planning on writing this series but not from the inside. Yeap. I am in the hospital having problems with blood infections. My mito body doesn't respond well to many strong medications and the bouncing back to healthy is slowwwwww.

Here are a few tips to help a hospital stay at the holidays feel less confining and disconnected:

Decorate your room!

Take part in hospital activities! Often there will be roving carolers, child life specialist that come and help cheer up your room, service organizations that have Christmas parties for the people there. (of course that all depends on your health)

Skype, FaceTime keep a visual contact going with your loved ones.

If you can have people stop in. Be sure all understand no one that even thinks they might be ill and only for a short time.

I have made a group Pinterest board with my family at home so we can exchange ideas for decoration and cooking idea

Most hospitals now have a way you can send Ecards. Give your mito friend a Ecard shower!

If your mito friend is religious and very traditional do your very best to in some way bring that tradition to them!

If like me you have little ones that are too small to come in video them walking through the house showing you what all they did for Christmas. A video of the morning and wrapping flying through the air will help heal an aching heart.

Now with Amazon Prime you can also send your mito friend Christmas shows via online download (if the hospital has the capability).

Christmas is not about the stuff. The stuff DOES help a person trapped in a beige room with little to no connection to the outside. Also a mito warrior that is awake at odd hours and minutes. Having something in hand will help them focus and know that they are loved.

Merry Christmas fellow Mito Warriors and Mito Families!

Feeding Tubes and the big Holiday Meals!

Holiday meal fun when you can’t eat!

When I was using a G-tube and J-tube for getting nutrition I wanted a fun way to incorporate it into our holiday. I also didn't want a child in the same situation to feel like they needed to go sit in another room so others would not feel uneasy.

I had fun with my feeding tube bags and the results is pure fun for all!

---the whole article is on SpecialNeedsHomeschooling.com---

I Will Fight You Mitochondrial Disease!

When I was in high school I was that student that was teased because she did everything. I got tons of certificates and awards. I was training for the Olympics on the side. I am NOT the cheerleader rah rah type but I was known.

After high school I kept my training up. I traveled the US shooting at competions from Canada,  the US west coast to the east coast and I was good. I didn't know anything about mito back then. It was just me starting a new life as an adult.

A few life issues happened and I joined the Navy. The Navy was a dream of mine. My family for generations has been in the military protecting the country. Now I was part of this legacy!

In bootcamp I struggled with the running portion of the training. I also found that unlike my fellow shipmates I was not getting better I was starting to slide and not be able to do as many push ups as I could do the day before. I got an infection in my feet from my Boon Dockers (Navy issue boots ugh!). Little things kept cropping up but again it wasn't enough to cause concern.

I passed the physicals and the physical condition testing. I graduated along with the rest of my class. My station was Puerto Rico! Island life baby! woo woo

But that island life had a high price for me. I was hot and humid constantly. I couldn't get away from it. The hard manual work I had to do was usually out in that heat and humidity. It hurt. I began aching constantly. Then training for our annual physical review happened.

Soon after starting that training on top of my normal hard schedule I passed out. I kept passing out. The hospital tried to help me with IV fluids but that didn't stop my body from crashing.

I now believe that was a mito crash. I crashed so hard that after months in the military hospital I had to get a medical discharge from the military and sent home still ill. I walked into the Navy and wheeled out.

Mito has taken a lot from me over the years. Mobility. Jobs. Friends. Some family. Now it is taking my hair, nails, and teeth because of extreme malnutrition. My body is not absorbing nutrients even through TPN. It's like by body doesn't know what to do with them.

Mito is a thief. Whether things are slipping away silently or in a huge way like a mito crash that lands you in the ICU. It takes and takes and takes.

Mito has changed me. And I hereby draw the line in the sand. Mito you will have to work hard to take another thing from me, my lovely kiddos, or my mito friends. I will fight you every step of the way. Helping research. Raising awareness. Talking to drs and other medical professionals across the country to bring awareness to mitochondrial disease and the need for a TREATMENT and CURE!

Join the Mito Families! Community

Mito Families! is my baby and I spend most of the time on Social Media with it. Helping to keep a supportive and I hope informative place for those dealing with mitochondrial disease.

1- Facebook Page Mito Families! News

2- Facebook Main Group Mito Families!

3- Facebook Group Mom's with Mito

4- Pinterest Board of ideas about Mito and Mito Awareness- Mitochondrial Disease

5- Instagram SpecialNeedsHomeschooling this is window into our everyday life which of course includes mito.

I hope that you come and enjoy some of the social media options. Make friends and find out that you are not alone.

Mitochondrial disease may have a strong hold on us but it does not define us!

Books on Mitochondrial Disease

Looking for some books to help you or your child understand mito?
Here are some great deals I found on Amazon.

First lets start with FREE!
The Gift of the Ladybug by Carol Amber Now lets move on to steeply discounted-- Mighty Mito Superhero by Makenzie Lawrey MitoAction is a big advocate in the mito community. Cristy Bacells is the director and she wrote a more comprehensive book about mitochondrial disease. One note this book is oriented more for dealing with a child with mito. It does talk about adults with mito but not in much depth. Living Well With Mitochondrial Disease: A Handbook for Patients, Parents, and Families

A Day of Rememberance- Light a Light For Mito

"Officially on the third Wednesday of every September, families and friends are encouraged to "Light a Light for Mito" in honor and in memory of the babies, children and adults who have lost their battle with mitochondrial disease." from MitoAction's webpage.

 In the mito community if you see a candle lit as a profile pic then we are honoring a mito warrior that has passed.

Attention Mito Gamers!

My daughter Bella has a Twitch channel, GamingIssy   Tomorrow evening she is going to have a mito awareness SIMS gaming session.

Come over and show your support for my teen mito warrior!

Gastroparesis and Mitochondrial disease

In hopes to raise awareness about gastroparesis I wrote my story with it.

Why I Quit Eating- August is Gastroparesis Awareness month. My story of gastroparesis and mitochondrial disease.

 

Did you write your story out? Please leave a link in the comments. Gastroparesis and mitochondrial disease are so unique to each person. Each story helps raise awareness!

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.
Source:
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.
METHODS:

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.
RESULTS:

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).
CONCLUSION:

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.

Respectfully,
Cristy Balcells RN MSN
--
Cristy Balcells RN MSN, Exec Director
Mitochondrial Disease Action Committee
PO Box 51474
Boston MA 02205
www.MitoAction.org
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.

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!

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
International

• 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 Amazon.com 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.

Diagnosis-Specific

• 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.

Miscellaneous

• 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!!!

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.
http://ghr.nlm.nih.gov/handbook/basics/dna

Sources: http://www.mitocanada.org/about-mitochondrial-disease/how-do-you-get-mitochondrial-disease/
www.umdf.org (mito 101 pdf)
www.mitoaction.org (about mito section)

The Green Monster in the Family Tree

When you get that diagnosis of mitochondrial disease it it hard. You work through the tough questions in your immediate family. The medical adjustments that have to be made. Finally you face the moment you realize that you have to tell the rest of the family that there is a monster lurking in the family tree.

Mitochondrial disease is passed genetically in several different ways. This is a complicated part of the disease, so complicated many doctors we don't fully understand it. Our knowledge of how mitochondrial disease is passed from parent to child, or a spontaneous genetic problem is changing. As medical science advances medical researchers are able to give us a better more detailed look into the genetics of mitochondrial disease.
Here is the explanation of mitochondrial disease genetics by the experts:
Inheritance and Genetics
The Genetics of Mitochondrial Disease
If you or your child has been told they have mitochondrial disease it is important to find out what type of inheritance pattern the geneticist believes or knows is happening. You should also ask them who in the family needs to be told for medical reasons and what exactly you should tell them. Genetics doctors and their staff should be very adept at helping you. They are dealing with not just mito but many other genetically passed diseases everyday. It still all comes down to you having to talk to your family.
A few helpful tips to try to ease this difficult conversation:
1) Don't have this talk on a major holiday.
2) Have it when you know things are going to be quiet and calm.
3) Try to have this conversation with back up help from your wife/husband.
4) Keep it simple. Be clear and to the point. Then have your family ask questions. That way when you are done talking everyone has the information they most wanted.
5) Finally take something solid like a book, pamphlet, or a website for your family to go to later. Most family members will not ask hard or emotionally loaded questions because they don't want to hurt you. By giving them another source(s) to turn to they can read through a book, pamphlet, or website for those answers later.
This isn't an easy conversation for any family. Also with mito there is so much gray area where you won't have the answers. This at least is a starting point for you and your family.

Why does diagnosing Mito take so long?!

"when you have eliminated the impossible, whatever remains, however improbable, must be the truth" Sherlock Holmes

It took my family 6 years of hard searching with highly qualified doctors to find out that we had mitochondrial disease. At first there were a lot of possibilities the genetics doctor and other doctors suggested. The children went through all sorts of testing and blood labs.

Then there was the wait after a test went out. Was it going to show the problem or were we waiting yet again for a negative finding or worse an ambiguous finding that required more testing.

I hated making my children take more and more tests. Slowly the possible problems were cleared from the table. Eventually the only disease left was mitochondrial disease.

After a couple years of that being the only possibility but still no diagnosis my husband and I were stumped. Why not diagnose the kids? One doctor said I won't diagnose your daughter with mitochondrial disease because then there is no hope. How wrong that doctor was. A diagnosis of mitochondrial disease is NOT a no hope situation.

It is serious.

Another doctor we dealt with said that the mito community was moving towards only diagnosing people when their was black and white lab evidence, therefore anything less was not diagnosable. Again not exactly true if you look at the DSM, Cleveland Clinic's criteria, and other main stream specialists.

Eventually testing for mitochondrial disease took a huge leap forward and we were clearly diagnosed. Not long after getting those results back I (a 35 year old had a large stroke). Soon none of our doctors could deny we had mitochondrial disease. Like the Sherlock Holmes saying, "when you have eliminated the impossible, whatever remains, however improbable, must be the truth" Mitochondrial disease was what we were left with.

It took years of searching and eliminating other possibilities. For us that is why it took so long for a final diagnosis of mitochondrial disease. The good news is, with the recent leaps in testing that LONG wait is being cut down to months or less! The best way to reduce your wait to find out if you have mitochondrial disease or a disease like mitochondrial disease go to a specialist in metabolic/mitochondrial disease. These specialist are often in a position to tease out which tests will be the most revealing and clarify your situation promptly. There are still times when being diagnosed with mitochondrial disease is an exercise in removing everything else it COULD be, to find what it is.

Ways to save money: Starting with the Insurance Company

I know everyone loves to throw darts at insurance companies. I am not going to defend them. They have worked hard to get most of their reputation. Remember though that the people working for the insurance companies are just like you and me.

1) Talk to your insurance company! Contact your insurance company and get a caseworker. That way you are can talk to ONE person and work your way through the various ups and downs of medical needs and bills. Your caseworker should be able to pre-approve needed visits, equipment, out of network issues, etc. 2) READ your insurance policy! Call the insurance company if there is a gray area. You want to be sure you know exactly what is in-network, out-of-network, covered under therapy, durable medical goods, what do they consider clincal trials. Make a list of exactly what affects your medical condition and look for those parts of the policy. 3)Do not try to blindside your insurance! I have had friends go to a hospital they knew was outside their insurance but they hoped was better for their child. They thought that once they were there they could talk the insurance into covering them in the hospital. WRONG. That just means you have to pay more money. 4) Know about and use the appeals process! I live hours from a large city and many of my old insurance's in-network mobility providers. I found out that I could appeal their out of network status of a local mobility provider based on distance and my inablity to get to the large city. I was also able to use an appeal to get in-home therapy because of my condition. I had to provide doctor letters. 5) Understand that your hospital and your insurance company have a deal. Your insurance company should send you a letter that says, "You owe General Hospital $341.00" If the hospital bills you for more then that you need to make some calls and find out why. 6)Look over all insurance claims, and bills! We have found thousands of dollars of billing errors over the years. Simple things like billing the wrong insurance company, the wrong child's name, or social security numbers that are wrong. 7)Never accept that a mistake on the insurance company or hospital's side means you have to pay. I was told that I had to pay for the entire amount of one of my child's births because our old insurance company falsely okayed coverage, then denied 2 years later. The hospital then turned to us for pay despite the fact that at the time of the birth we provided the right insurance company. We had to press the issue but they finally billed the correct insurance and all was taken care of. During this all we were told that despite their mistake because of the length of time involved we HAD to pay. While I am not a huge insurance fan I would MUCH rather have the insurance of my choice then none at all. I highly recommend using a large dose of politeness and honey when talking to your insurance representatives or caseworker. They have information you need and could make your life better. When you are looking at your medical bills and trying to pare down the expenses. Start with your insurance!

Mito Families! is hosting a Christmas Card Exchange!

I am excited to announce that Mito Families! is hosting a Christmas Card Exchange!

If you are affected or suspected of being affected by mitochondrial disease whether you are an adult, teen, or child you are welcome to join our Christmas Card Exchange. This is a worldwide event that based around the love we feel for each other to fight this disease together.

I would like to have us all keep eagle eyes for any person with mito that is in the hospital within 2 days of any of the holidays. We can then send them e-cards via their hospital (if they have that service) so they don't feel alone in the hospital.

There are lots of questions about what is going on and what I am asking from you. Lets keep this SIMPLE friends! Here is the starting place a questionaire I created.

I am open to helping families with the card exchange and with any concerns you may have. You can email me at gfcfmomofmany (@) yahoo.com

Mito tends to bring friends

Mitochondrial disease is a whole body issue. While it may affect some areas more than others due to the exact gene and energy complex affected. The whole body is at high risk. One of the main symptoms of mito is to have more than one major body system compromised.

Simply meaning mito brings friends...

Mito is generally associated with muscle weakness, energy loss, and progressive disease course. Along with that can come mild to severe problems in your eyes, digestive system, autoimmune problems, bone marrow shut down.... and the list continues on and on.

If you think you are experiencing additional symptoms that are not being covered by your current care you may need to seek out additional specialist help.

For example: I began losing hair. Not just a little bit but hand fulls. No doctor had any ideas why. They knew I was suspected of having mitochondrial disease. That was not the cause in their opinion.

I had to do some web searches, call some friends, quiz every doctor I saw for possibilities. One possibility came up several times from several different angles, lupus.

I went to nearby lupus center and had a ton of labs, and tests run on me. The doctor poured over my record. My autoimmune system had gone out of control. I had lupus and several other autoimmune issues.

The doctor started me on medication to get my lupus under control and that helped my mito symptoms. There is a delicate balance that has to be found. Keeping the your secondary issue from causing your mito to progress and keeping your secondary issue from progressing because you aren't treating it aggressively enough.

The funny sad thing is to have mito and another disease like lupus I have had to deal with doctors that could only focus on one or the other. This is where going to a medical center that deals with mitochondrial disease and has a large group of specialists that can talk directly with a mito specialist is helpful.

Mitochondrial disease is not simple, and as the disease progresses it will get more complicated. Be on your toes and encourage your doctors to always check the simple answers, before assuming that mito is the reason behind new symptoms.

Stay strong my friends!

I have a Gtube

At the peak of Mitochondrial Awareness Week I was struck down. I ended up in the ER on Friday with a PICC line infection. The infection had already jumped to my blood and was causing havoc.

I had staph and yeast system wide :( It took a week of IV antibiotics and anti fungals to get everything under control.

The PICC line was taken out and a PEG tube was put in. I now get fed through a tube in my stomach that can be a G tube, meaning it goes into to the stomach only. Or a Jtube which means it can be extended down into my small intestine.

We are starting with the Gtube option because the stomach is a natural holding place for formula and food and will allow a short burst of larger amounts of food. If we have to go down to the Jtube option I will need a continuous feed because there is no place to hold formula.

Frankly the Gtube option is not going well. My stomach just cannot handle the schedule I was sent home from the hospital on. I have changed down to one of the most elemental formulas and that has helped but not relieved the problem.

This weekend I have two posts that I am putting together by request. One is how does a Gtube feel. Many mito kids have Gtubes but are unable to explain how it feels to their parents. The other article goes with the financial article I wrote last. I forgot to show how expensive and cumbersome supplements can be. Lord willing I will add those articles this weekend!

I hope you all have a wonderful, healthy day!