My appointment with the Muscular Dystrophy Association

The day before:

It's the night before another "big" appointment.  I am quickly overwhelmed with all of the different emotions I had with my first appointment last May.  I'm not sure these feelings of uncertainty will every go away.  For some reason I assumed I would see the doctor, get a diagnosis, get treatment, and never go back.  I really hadn't seen too far into the future of what it entails to have a chronic illness.  All the time that will be spent with doctors from here on out is still a concept I haven't quite grasped.
I call these "big" appointments because they are with very intelligent, world renowned specialists that I hold all of my hope with.  They are the ones, the very few, that might know what  is going on in my body.  Because of them, I hold on to the idea that someone will be able to help, maybe even fix.

Right now, I am nervous.  What if he doesn't know or worse, what if he does know but there is no way to help?  Will he have the answers I have been praying for?

I am so happy to have my husband, my strength by my side through all of this.  I'm not sure I could hold it together without him.  He has been an amazing support through everything and I am so grateful for his love.

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The day of the appointment:

I was referred to Children's Hospital of San Diego to the top doctor with the Muscular Dystrophy Association {MDA} from my neurologist at UCSD.  After several phone calls to the parents of Karen and letters to the parents of Karen, I realized I was probably their oldest patient.  Rady's Children's Hospital is so wonderful!!  I have been there before with Alexis and loved the place and everyone who works there.  Today we were treated so well.  Everyone is so chipper and eager to help, they all have warm smiles on their faces.  It's not like other hospitals where staff members look the other way when you approach them with a question.  I think I just kept confusing them when they asked who was being seen as they looked around for my children.  It's me I said.  33 years old at Children's Hospital.

{Me and Ronald McDonald}

I got called back and met with the coordinator for the MDA.  She was so awesome!  She went over all the wonderful services that the MDA has to offer.  Our initial appointment is for introductions and getting all the information and the next appointment {in 6 weeks} will be 2-3 hours and involve the entire MDA team of physical therapists, occupational therapists, geneticist and the neurologist.  After getting familiarized with the MDA's services we then met the doctor.  This guy has been around for a long time and has seen it all... almost.  We started with a clean sheet of paper and I told him every weird symptom I had hoping he wasn't going to look at me like some kind of nut.  He did some muscle strength tests that completely wore me out and then looked at me and said, "You are a tough one".  I thought he was saying that in a good way meaning that I'm strong but apparently he meant that I am a tough case to figure out.  He said that I have had 3 of the nations top doctors working on my case and for me not to give up hope.  He promised me he would not give up on me and would run whatever tests he could think of to figure this out.  The way I see it is I have something so rare and undiagnosed that I might make it into the medical journals and have a disease named after.  Maybe they can add my name to it?  Nothing about me is black and white.  There was no clear cut answer so today, he couldn't give me an actual diagnosis.  We know from the muscle biopsy that my muscles are dying because my nerves are dying indicating a primary nerve disease.  The reason for my nerves dying is caused from a mitochondrial myopathy.  This is all we can figure out so far.  This neurologist is going to have coffee with my neurologist from UCSD to discuss my case and see what they can come up with.
I was relieved that he couldn't give me a bad diagnosis but at the same time frustrated that without a clear cut diagnosis, we can't get any answers.  The answers are what I feel I need.  I want to know my future and more importantly I want to know the future of my children.  We know that I have a few genetic mutations {even though we don't know anyone in my family with this} so I need to know if I passed it onto my children.  Maybe it is better that I don't know right now.... they look so healthy and I don't want to treat them any different.  But at the same time, if this is something they will eventually have, I want them to live it up right now.  Do everything they can until their bodies won't work like they used to.

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The day after:

I still have hope and a lot of it.  I have accepted my body with it's challenges and will continue to live a happy and joyful life.  We are going to start playing again now that I have assistance with mobility.  The playing won't be the same as it was before but nonetheless we are getting out.
I will continue to pray for answers and for strength.  I know we have an incredible group of medical doctors on our team and I pray for their wisdom at figuring it out, and fixing it.