The Big Appointment

As we are quickly approaching the BIG appointment we are simultaneously experiencing a multitude of feelings. Excited, nervous, anxious, worried, happy, sad.... the list of emotions goes on. I have been so excited that the appointment is coming up because to me, that means answers and treatment. I can't wait to start feeling better again! But then I start wondering... what if this doctor can't give me answers, what if he can't help me? 5 1/2 months of waiting and I have to keep waiting? After seeing our last neurologist at UCSD we felt very confident that he put us into the right hands of this specialist. When you read about the possible diseases and ailments you might have (I do not recommend anyone ever doing this) fear will take over. What does my future hold? How sick will I get? I have to quickly remind myself that none of us have a crystal ball. We don't know what our next moment holds. Fearing the future is not a way to live. Erase the fears and allow yourself to open your eyes to see what is happening right in front of you. I see my kids playing together - pure joy! I see the sun shining outside - bliss. I hear the birds chirping - peace. I feel healthy and strong and as long as I can take each moment and live in the present I know that my future will be bright because I will always be living in joy!

The Big Appointment

The morning of the appointment that I waited 5 1/2 months for was raining. We decided to leave 2 1/2 hours early because I was so worried I would arrive a few minutes late and they would cancel me. It only took us an hour and a half so we had a wonderful cafeteria breakfast at UCSD. I'm serious, the food was so good and cheap! If I lived closer, I would go all the time.

As I sat in the exam room with Anthony my mind was going a mile a minute wondering if the doctor would be nice, if he would even give us the time of day. He was wonderful! He and the other 3 neurologists that came in to listen and consult. They spent over an hour and a half with us. I felt like I was on an episode of House.

I have mitochondrial myopathy and I will be undergoing further testing to rule out some other diseases. Diseases that should NOT be googled after leaving the appointment. I have medication and supplements to start treatment and will have more blood work done in the morning. If I didn't have that great breakfast, I could have had them done today.

A little background... I started experiencing muscle weakness a year and a half ago which has been progressing. Today's neurological exam showed many of my muscles have atrophied. I had a muscle biopsy done last August that showed my muscles were dying because my nerves are dying. It showed I had an excessive amount of mitochondria in my cells. I continue to adapt to my new "body" and we as a family have taken on a new lifestyle. One that doesn't include as many vacations or Havasu trips but that's ok, because we love playing at home. I am hopeful that with treatment we can stop the progression right where we are so I can continue to do all the wonderful things that I love.

Here is some info on what I have:

What is Mitochondrial Myopathies?

Mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondria—small, energy-producing structures that serve as the cells' "power plants." Nerve cells in the brain and muscles require a great deal of energy, and thus appear to be particularly damaged when mitochondrial dysfunction occurs. The symptoms of mitochondrial myopathies include muscle weakness or exercise intolerance, heart failure or rhythm disturbances, dementia, movement disorders, stroke-like episodes, deafness, blindness, droopy eyelids, limited mobility of the eyes, vomiting, and seizures. The prognosis for these disorders ranges in severity from progressive weakness to death. Most mitochondrial myopathies occur before the age of 20, and often begin with exercise intolerance or muscle weakness. During physical activity, muscles may become easily fatigued or weak. Muscle cramping is rare, but may occur. Nausea, headache, and breathlessness are also associated with these disorders.

Is there any treatment?

Although there is no specific treatment for any of the mitochondrial myopathies, physical therapy may extend the range of movement of muscles and improve dexterity. Vitamin therapies such as riboflavin, coenzyme Q, and carnitine (a specialized amino acid) may provide subjective improvement in fatigue and energy levels in some patients.

What is the prognosis?

The prognosis for patients with mitochondrial myopathies varies greatly, depending largely on the type of disease and the degree of involvement of various organs. These disorders cause progressive weakness and can lead to death.

If you are interested in reading more info here is a great website: http://www.mitoaction.org/mito-faq

Thanks for all of your love and support during this "journey"