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!

Mitochondrial disease is a killer

Light a Light for Mito 
On Wednesday September 21st, 2011, as we celebrate and join together to raise awareness for mitochondrial disease across the globe, we remember those who have lost the battle with mitochondrial disease and ask that friends and family "Light a Light" in their memory.

This idea is from MitoAction and I thank them for that. Everyday some parent, or adult is told you have mitochondrial disease. Everyday a parent or adult is told we have done everything we can, there is nothing left to help you. Everyday someone passes away due to mitochondrial disease or it's complications. 

Some families don't even know that mito was the culprit until testing comes back weeks later. Other families barely had time to register what mitochondrial disease was before it was over. Most of us with mitochondrial disease live with it for years. We see the disease progression. We know the end. 

Like a patient with incurable cancer we know the disease is attacking our digestive systems, heart, liver, or muscles. Leaving our lives in shreds and we have no way to stop it. 

Mitochondrial disease can be a steady progression downward. Mito can be a surge downward when an infection attacks the body. There are mito patients that spend more time in the hospital in a year than out. While in the hospital, with our weakened immune system, we pick up viruses that lay dormant waiting for the body to become weaker and then pounce just as deadly as mito itself. 

One of my lovely children has at least one of those viruses waiting in her lungs. As a parent can you imagine my fear when she starts to cough? 


Please join us today in making the picture from above your pic on FB or Twitter in honor of those that have passed away, and a silent hug to the families left behind. Thank you.

The ABC's of a very complicated disease

United Mitochondrial Disease Foundation describes mito (shorten version generally used) as this:

“Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth.”

That makes it sound like a steady loss of power to the body's cells equals disease and a steady progression to death of the cell, organ, or the person. Mito is not that easily captured. Mito can seem to wax and wane. Many adults and teens are misdiagnosed with Multiple Sclerosis or lupus. Babies are often diagnosed with Cerebral Palsy. This is a VERY complicated disease that is woefully under-educated in the medical community.

Problems That May Be Associated with Mitochondrial Cytopathies
        

Organ Systems	Possible Problems
Brain	developmental delays, mental retardation, dementia, seizures, neuro-psychiatric disturbances, atypical cerebral palsy, migraines, strokes
Nerves	weakness (which may be intermittent), neuropathic pain, absent reflexes, dysautonomia, gastrointestinal problems (ge reflux, dysmotility, diarrhea, irritable bowel syndrome, constipation, pseudo-obstruction), fainting, absent or excessive sweating resulting in temperature regulation problems
Muscles	weakness, hypotonia, cramping, muscle pain
Kidneys	renal tubular acidosis or wasting resulting in loss of protein, magnesium, phosphorous, calcium and other electrolytes.
Heart	cardiac conduction defects (heart blocks), cardiomyopathy
Liver	hypoglycemia (low blood sugar), liver failure
Eyes	visual loss and blindness
Ears	hearing loss and deafness
Pancreas and Other Glands	diabetes and exocrine pancreatic failure (inability to make digestive enzymes), parathyroid failure (low calcium)
Systemic	failure to gain weight, short stature, fatigue, respiratory problems including intermittent air hunger, vomitting

Taken from Mitochondrial News, Fall 1997 Issue by Bruce H. Cohen, M.D.

The tract of this mitochondrial disease can be everything from horribly affected before birth with low birth weight, still birth, birth defects, or severe problems at the moment of birth. These babies are often affected with a severe fatal form of mitochondrial disease and may not see their 2 birthday. On the other side of the spectrum it can be a muscle based extreme weakness and exercise intolerance. Most affected people fall between these two.

Babies and young children develop problems as they grow autism, cerebral palsy, breathing issues, immunity problems, etc. Unless an obvious indicator for mitochondrial disease is found these children are in limbo searching for months or even years for why they are so sick.

Adults are the often forgotten group of affected. Not too many years ago this population was mostly ignored unless they presented with "classic" eye muscle paralysis, loss of hearing, or eyesight. Adults are often left in limbo as testing of this complicated disease can lead less educated doctors to become frustrated. A frustrated doctor or an ER that sees a patient too many times can note on the person's file that they have mental health issues.

How horrifying that is to teens or adults that may need the mental health assistance in dealing with a chronic life altering disease. Many adults will shy away from seeking this help because of the fear they will not be properly treated for their medical problem. It is a balance that is so delicate and can be easily upset leaving a patient in dire need of ALL the support the medical community can give them, on their own.

Mitochondrial disease is not an easy disease to understand, test for, or diagnosis. There is no cure or treatment and many doctors I have dealt with do not want to diagnosis mito because of there is no cure or treatment. They feel by diagnosing me with mito they have somehow failed me.

The diagnosis of mitochondrial disease is a horrible nightmare for a parent. A breath taking blow to an adult that had dreams of marriage, children, and having the American dream. There is NO easy way to deal with this diagnosis and disease. You will grieve. You will get angry. You might even face resistance in unexpected places like your family as they desperately don't want this to be true.

I can tell you having walked this road that you will get through. If you can find a support group near you of other parents and affected individuals then please attend. If like me there is not anyone else near by, try an online group like Mito Families! There is a Mito Families! news, and Mito Families!  .(this is a closed group so you will need to ask to join). I also put out a newsletter (when I get back up on me feet from my stroke.)


Here are several organizations that help patients with support, raising awareness, and encouraging research.
MitoActionhttp://www.mitoaction.org/
United Mitochondrial Disease Foundation

Why we desperately need mitochondrial awareness!

Heather and all 5 children are suffering from mitochondrial disease. Several of us have had strokes, several of us need wheelchairs or other devices to walk, 3 of my children do not sweat or shiver (Can you imagine never knowing if you where too hot until you had a heat stroke, or too cold until you saw the frostbite?) Heather has lost the ability to swallow solid foods and digest properly. The list goes on and on because mitochondrial are in almost every cell in the body!

We started Mito Families! in the hopes of reaching out to other families and help them through this very rough journey. It took us 7 years to be positively diagnosed with mitochondrial disease. Years of having to drive around the country to see specialists. There were always questions... why is one child more sick than another, why can't the doctor's just fix this, why can't the doctor's just tell you what is the matter. At times we were terribly lonely, sick, and full of questions ourselves.

We could never walk away from the search. The kids and later I (Heather) continued to worsen. We learned to trust our medical team. We began educating our relatives, friends, church, anyone that would listen in mitochondrial disease. Through education of this disease our lives and the lives of those that will deal with this someday will be better.

Another HUGE reason for mitochondrial awareness and education.... There is NO direct treatment. Only this year has 1 possible medication been put into clinical trial. There is NO cure. There is no office at the National Health Institute or elsewhere that compiles all the research and creates studies and medicinal trials for the mitochondrial community. We MUST have cooperation. 


Please whether you are directly affected or not help us spread awareness of this devastating disease.

Mito hit me with a sledge hammer!

Days after writing my last post I was hit with the mito sledge hammer. I had a stroke. The stroke caused or was closely followed grand mal seizures that are not easy to control. The third big hit was my stomach has slowed down almost to a halt along with my swallow muscles can no longer handle anything bigger than liquid. Mito is nasty that way.

A person with mitochondrial disease can be doing well for a long time or with minimal progression then take a sudden dive medically. Stress on the body like infections, heat, cold, or physical overexertion can cause disease progression. The best way to demonstrate this...

Think of the heart of summer in California. Everyone has their a/c on and all the normal electronics. Everything going full blast at once. A high function energy system can begin showing signs of stress and having rolling brown outs. What if that energy system had limited energy to begin with before this stress was ever added you could have severe outages. The same holds true with mitochondrial disease.

I was stressed system wide by whooping cough and the end of a long illness filled winter. A portion of my brain where I have had strokes before seems to be very vulnerable to this energy outages. I had a outage that caused a stroke.

Mitochondrial strokes are not your typical vascular stroke. Mitochondrial strokes are usually metabolic strokes. Often they do not immediately show up on MRIs and some may never. This is one HUGE reason to have a neurologist caring for you/your child that is experienced with mitochondrial disease. They know what to look for and how best to care for you through this difficult time.

An important rule of life for a person with mitochondrial disease, keep the stress of ALL kinds to minimum!

NOTE: Mitochondrial Disease Awareness Week is fast approaching! September 18-24th

Seizures/ Strokes/ Stroke Like Episodes are common for us :(

Can you imagine a child that takes having a seizure or stroke like episode so in stride that they tell you hours later?
"Mom I had a seizure and made a mess in my pants. I decided to wear a diaper all day today just in case"
That came from my almost preteen child!

There are some promising treatments to help with strokes and stroke like episodes for those of us with mito. For those that don't know a stroke like episode is like a TIA commonly thought of as a precursor to a larger stroke. For those of us with mito these episodes of hemipalegia (one side weakness are paralysis), apraxia (speech problems) and other stroke symptoms can come and go as often as several times a days to occasionally.

My daughter had her first stroke the Halloween she was two. She kept walking into other people's yards and was incredibly tired. The left sided weakness got better over months but never went away :( For me it is my right side, so my daughter says when we are together we are whole and stronger!

I agree together we are stronger!

A peek behind my healthy mask at an energy crash

One of the biggest misunderstanding of mito (mitochondrial disease) is the fatigue or energy crash issue. Ask a person with Chronic Fatigue Syndrome what is the hardest thing about your condition and those that I have talked to will say 'it's looking healthy and yet my body is not.' The problem holds true for mito patients.

We can look healthy and on the inside our very cells are struggling minute by minute to keep up the demands of the body. Mito causes our bodies to produce less energy, use it less efficiently, and regenerate it less efficiently.

For instance a healthy child runs around a track at school for gym class. They are winded and red faced. Five minutes later they are laughing and back to normal. A child with mito may not be able to run around the track at all. Problems they may encounter could be everything from simply not enough energy to move their muscles, to a temperature that is suddenly out of control, or worse like a seizure or stroke like episode caused by lactic acid from the muscles. Then even if they can run around the track without major issue it may take them days to get their energy back.


Without realizing it I have been having energy crashes all my life. Here is a recent one....so you can have a better idea what a crash looks like and feels like.

This past Christmas season was a tough one illness wise for me and the kids. We started getting winter illnesses back in August and they just kept rolling through until early December. That leaves us open to all kinds of problems with mito. That also leaves us exhausted physically.

Christmas morning came and the kids woke up ready to go. My husband needed to insist I get up and come upstairs. I didn't know what was wrong but each movement cost me dearly. Each step was like climbing a mountain. I couldn't think or talk clearly, nothing made sense to me.

I sat on the couch and had presents put on my lap. I don't know what I opened. I tried so very hard to "wake up" enjoy Christmas but I couldn't. I was unable to even open my own presents. I had my children open them. I don't know what I got or what the kids got. I had to be helped back downstairs to bed after the presents were opened.

Again my husband trying to help me, woke me up in the afternoon. Understand that was not true sleep I had. I was fumbling in my sleep. The blanket was so heavy my weaker right side couldn't push it off. The feeling of helplessness crept into my waking/sleeping. It was a relief to be woke up and brought upstairs again.

I was using my wheelchair because my legs would not hold me. Again I could not stay up for more than 40 minutes. I was awoken once more to eat dinner with the family. I was able to sit at the table. I don't know if I ate or drank anything. The entire day was such a blur of grayed out, mismatched images.

I lost a Christmas with my children. Mito took that from me and there is nothing I can do to ever get that back. If you had seen me that day I looked tired but normal. It would have taken a keen eye to see the droopy right side of my face and eyelid. You wouldn't have seen the struggle and problems with thinking I was having just by looking at me.

Sadly those in the mito world are so often judged by the outward appearance of health. Even if inside we are falling apart. What I experienced was called an energy crash. It can often happen when a person is stressed metabolically, physically exhausted, or can seem to come out of nowhere. In my case it was the long run of illnesses and the added pressure of Christmas that pushed my body over the edge.


When you have mito you can be too tired to:
~eat
~think
~talk
~walk
~digest
~maintain your temperature
~keep enough energy flowing to all your brain to prevent damage
and the list goes on...each person is affected differently 

I hope this helps you understand. You can image I wanted to enjoy my Christmas with my family I was unable. Not out of choice, or inability to overcome it with a strong will. My body failed me because I have a mitochondrial disease.

My prayers go out to those fighting this disease along with me. I am also sending out prayers to those that are working towards finding testing, treatments, and hopefully a CURE for this disease.

Mito Doctors are on the move

In the past few months there have been several doctors that have moved from their former positions. Sometimes ALL the way across the country!

Dr Bruce Cohen, formerly at Cleveland Clinic, has moved to Akron Children's Hospital. Akron is just down the road from Cleveland about 40 minutes.
Children's Hospital adds big hitters Bruce Cohen comes from Cleveland Clinic, Rich Hertle from Pittsburgh to direct top-level pediatric departments 
One note there while Dr Cohen is the mitochondrial specialist, Dr Hertle is the doctor to see if you child suffers from nystagmus.

Finally a new mitochondrial medicine center is being launched in Philadelphia!

Top Expert on Mitochondrial Disorders Launches New Center at The Children's Hospital of Philadelphia Under the leadership of Dr. Douglas C. Wallace. He used to be in California as the founder and director of the Center for Molecular and Mitochondrial Medicine and Genetics at the University of California-Irvine

Remember if you saw one of these doctors and would like to continue your care with them, YOU are in charge of moving all your medical records to follow them. Call ahead to their new hospital and confirm things like, are you seeing adults, when will the doctor begin seeing patients, and do you take my insurance! 

If your mitochondrial specialist is changing hospital or retiring please leave a comment and let us know! This knowledge can help us make decisions from who we see to where we move. 

Welcome to Mito Families!

Hello my friends! I needed a landing place for some of the articles and ongoing work of Mito Families! We will continue to have a monthly newsletter! This blog is just adding to how much we can help one another.

Who will benefit from Mito Families? ANY ONE who is affected by mitochondrial disease. Whether it is you personally, your child(ren), your beloved relative, or best friend.

Mito Families! Goal is connect affected people together geographically and online with one another. Mito is a hard disease to handle alone. Together we are so much stronger! Together we can help through experience, encouragement, and understanding.

I welcome ideas on what to post. Do you feel led to write a post? Go right ahead. Keep it rated G.

Again welcome to Mito Families! blog. I will be adding to the blog over the next few days to make to more of a blog home :)