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I Have Mitochondrial Myopathy/Disease
Posted on May 01 2016
HUGS FOR MITO
HUGS (Help Us Give Strength)
MITO (Motivate & Inspire To Overcome)
CONCLUSIVE DIAGNOSIS TODAY 12/1/14
I hope this announcement is one of the finest “think pieces” that I’ll ever write, and at the end of the day touch all of you in a very special way. It’s being written from the heart with lots and lots of love and I thank each and every one of you for taking the time to read it.
We all go through personal life experiences; heartaches and obstacles that ultimately define who we are as individuals over the course of our lifetimes. How we choose to deal with these life experiences say a lot about our personal character and make for the individuals that we are today.
So many of you have supported me over the past two and half years as I battle illness and what had become “the unknown”. Sometimes, when illness strikes there is no clear-cut reason as to “why and how come?" Both are very valid questions. Another very valid question is “what do you mean when you say that the medical community can’t give you an answer?" Unfortunately, the answer isn’t always so crystal clear. The medical community with all its wonderful doctors and technology isn’t a flawless process. In my particular case it’s taken quite some time for a diagnosis but I finally have an answer as to why I’ve been so ill.
I apologize for using Facebook as my medium but we all know that SOCIAL MEDIA is the best means of reaching the masses. So many of you have expressed a deep interest in my well-being and I can’t thank you enough. The wait is finally over and the doctors know what the culprit is. A couple of months ago I put a very similar message to this one out there so I could keep you all apprised of my condition. Now that I have a conclusive answer and can post without feeling that its being done prematurely. My doctor has been treating me in the direction of “a particular disease" but I’ve felt SOOO lame for the longest period of time saying that “I just don’t know” what’s going on with me physically. Plus, and more important than anything else in my eyes is that fact that to many CHILDREN are suffering from this disease and there is so much more that needs to be done in the way of creating awareness.
The disease is called MITOCHONDRIAL DYSFUNCTION or MITO for short. MITO is the umbrella to some 40-50 classifications that exist. The classification that I fall under is called MITOCHONDRIAL MYOPATHY. Let me explain further. As my doctor explained today and I’ll try and do my best to duplicate, PICTURE A CIRCLE. A solid circle with no breaks. This circle represents a CELL. An individuals DNA is contained within that circle. I have breaks within that circle/MY DNA that lets a doctor know its MITOCHONDRIAL MYOPATHY. Now picture a circle inside of the first circle. This circle represents your GENES. I gave blood today so GENE testing can be done to determine the exact GENE that is causing the MYOPATHY/DNA BREAKS and will classify me into one of those 40-50 classifications. This process can take another 6-8 weeks. No guarantees! I hope I did you all some justice with my explanation? Its an extremely complicated process.
Those of you that know me best can vouch that I pull no punches and tell it like it is. Hence, my next tidbit of news. During a CT SCAN (the end of October) for this crazy cough of mine a 7mm nodule was detected on my lung. Typically, these masses are benign and pose no real problem. I'm sure it will be the same for me. At this time however, it's a wait and see game for the next 4-6 months to see if there is any additional growth. That will be determined with a new CT SCAN. If there is growth I have a problem! One day at a time!
MITO is the result of breakdowns in the mitochondria. Mitochondria are specialized compartments that are present in every cell of the body except red blood cells and are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When mitochondria fail, less and less energy is generated within the cell.
Cell injury and even cell death can follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the individual in whom this is happening is severely compromised. THE DISEASE PRIMARILY AFFECTS CHIDREN, but adult onset is becoming more and more common. Every 15 minutes, a CHILD is born who will develop a Mitochondrial Disease by the age of 10.
Failure of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.
Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders, swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual problems, hearing problems, lactic acidosis, developmental delays, extreme fatigue heat & cold intolerance and susceptibility to infection.
MITO presents very differently from individual to individual and is very difficult to diagnose. There are few doctors that specialize in MITO. I have been seeing Dr. Amel Karaa at Mass General Hospital and after numerous clinical visits, specialized blood testing in the way of DNA analysis, muscle biopsy and a host of medical professionals poking and prodding at me I now have my answer after two and a half years.
There are no real treatment or medications to combat MITO. Treatment consists of vitamin therapy and conserving "ENERGY". The goal is to improve symptoms, conserve energy and slow progression of the disease. This is accomplished by sustaining a comfortable environmental temperature, avoiding exposure to illness and ensuring adequate nutrition and hydration.
Some of the challenges of living with MITO are that it affects multiple organs, can affect multiple family members and can affect multiple generations. There is a lack of AWARENESS and UNDERSTANDING of the disease, which is why this announcement needs to be one of my best ever. I NEED to create awareness! Not just for MITO, but ALL DISEASE AND ILLNESS. As a society we need to rid the world of Cancer, MS, MD, MITO and the million other diseases that we’re all aware of, “AND NOT". I’ve been receiving quite an education and the “and not” part of the last sentence includes many “orphan diseases” which in layman terms means “RARE diseases” that affect a small part of the population.
MITO PRIMARILY AFFECTS CHILDREN as I stated earlier. CHILDREN! I want each and every one of you to really think about that! Families are continuously forced to expend their very limited energy to explain their disease, advocate for themselves and fight for services.
MITO can be an invisible disease. On a good day an individual may look fine and healthy. They have more energy and appear rested. On a bad day an individual with MITO may appear tired to significantly ill. They are obviously fatigued and/or have significant illness. Bad days often lead to regression and an individual may have difficulty returning to baseline. The disease is unpredictable. Day to day, hour-to-hour an individual can develop symptoms and their stability can be threatened. An individual can become symptomatic at any time in life despite the fact that it is inherited.
The prognosis for MITO is variable. Some individuals live a normal life and are minimally affected while others can be severely compromised. It’s completely individualized and the prognosis is unpredictable.
With all this said I want to be a champion for the cause because obviously it strikes close to home. I want to RAISE AWARENESS for ALL disease and illness in any way that I can. If MITO needs a face (AND I KNOW IT DOES FROM ALL THAT I’VE READ AND BEEN TOLD) then you can stamp mine all over it. I’m living with the disease and it would be MY HONOR and PRIVILEGE. I’m living a wonderful life and plan on continuing to do so. It may be with a few more challenges but my parents didn’t raise a quitter. I still have a lot to accomplish and there are many of life’s simple pleasures that I still plan to experience and enjoy. The bucket list is growing. Please, don’t feel sorry for me. I’m not feeling sorry for myself and self-pity is such a wasteful use of time and “ENERGY”, (NO PUN INTENDED). I’m OK, I promise! Move on and live on! Someone once told me, “life is meant to be lived and love is meant to be shared!
I have a great support system in family and all of you, my friends. Each one of you brings something very special and unique to the table. Don’t ever forget it! Believe in yourself and the difference that you can make in this world and “GO FOR IT”!
My biggest concern is for the CHILDREN. Children are sweet, adorable and the innocence in this world of ours that for ME makes everything all right. They need to be cultivated and groomed into mature adults and each and every child deserves that chance. A legitimate, fighting chance to grow up and experience all that life has to offer. First Steps, Confirmations, Baptisms, Bar & Bat Mitzvah’s, Driver’s Permit, Driver’s License, Dances, Proms, Graduations, Work, Relationships, Marriage, Children Of Their Own and the list can and should go on and on, NATURAL PROGRESSION. Get involved for the CHILDREN! All these kids want to do is fit in and be LOVED! Small ask if your polling me. I encourage my fitness industry colleagues to work with children of MITO and other diseases. I promise it will be one of the most rewarding experiences of your life. A child with MITO may never make a single gain or ever return to a previous baseline. But, I can guarantee you'll bring a huge smile to some wonderful child's face as your gentle touch "energy" radiates through their body. YOU! YOU have the tools and skill set to keep these children going and giving the gift of LIFE! Think of a life’s work helping children? What could be more gratifying?
Please, let's not loose sight of the fact that adults like myself also suffer from this dreadful disease and we need YOUR help as well! Disease doesn't discriminate based on color, religion, economic status etc. It can strike at any time and with no rhyme or reason. Disease holds no prisoners. One day you're fine and the next day you're not! Trust me, I’m a living example! You don't choose disease or illness; IT CHOOSES YOU! Want to know what MITO looks like? It looks like ME! See the enclosed video’s below. Those videos were taken around July & October. For the record I truly thought I would have had a diagnosis shortly thereafter. Some hospital politics got in the way of that plan so here I stand before you today (OK, not quite standing).
This “think piece” (I’m not quite sure what else to call it) hasn’t come easily. It’s been months in the making. My MITO has progressed over time and I want to paint the perfect picture of what its like living with MITO. Many of you may "SEE ME" online liking your pictures, family activity, personal goals that you’ve accomplished, etc. ALL OF YOU are my links to the outside world along with all of these wonderful gadgets we call technology. Smart phones, computers, laptops, tablets, etc. At this stage of the game they keep me connected. What you “DON’T SEE" is that I’m dictating to my laptop. My hands don’t function the way they used to. My thought process and memory have both taken a hit. I have a constant headache that just won’t go away. I take 3 hour plus “daily" naps so I can function. I’ve lost most of the vision in my left eye and my right eye seems to be a little off lately. I always had impeccable vision. I walk with a cane and walker. I experience pain and soreness every minute of every day to the point where I just can't get comfortable. I have difficulty swallowing, each and every swallow feels like a sore throat. Every day life doesn't come to me as easily as it used to. I have to work much harder for the simple things. My mother and father worry every day about what the future holds for their baby! YES, I’m a pretty big baby! Now that I have a conclusive diagnosis I can really delve deep into the cause and help a lot of people, especially the CHILDREN.
I want to thank each and every one of you from the bottom of my heart! Now share, share, share and gift, gift, gift! I’ve tried to make it as easy as possible below. I want you all to understand that NO proceeds go to me and that anything you do is a direct gift to Complex Disease Diagnostic Care & Rearch Fund - Dr. Amel Karaa.
Take care of yourselves and be well!
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