Thursday, November 17, 2011

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.

25 comments:

  1. praying for you friend! Praying for peace over this situation. praying for a clear diagnosis and better than that a treatment.

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  2. You and Anthony are some of the most extraordinary parents I've ever met, and I'm sure your kids are not lacking for anything. They are such well-adjusted, incredible kids...a clear sign of amazing parenting. We're praying for you in the midst of this challenge for clarity and wisdom, but most of all, peace in knowing that despite all the turmoil, you are always in the midst of God's will and that He's always working on your behalf.

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  3. Praying for a miracle beautiful girlie! Comforting to know that you are seeing the BEST of the BEST!!!

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  4. You are such an inspiration. Its so frustrating to have a mystery disease, I know because I am going though the same thing right now. Keep praying and trusting in God His strength will pull you through this. Dont worry about the unknowns because God is already working on those for you too. Hang on to hope. I believe this stuff happens to open our eyes and appreciate all the little things in life. You will come out of this a stronger more joyful women! Blessings, Nicole

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  5. Continuing to pray for you and your family. I think if we were to know everything ahead of time we would all freak out. God lets us know what we need to so that we can trust him with the rest.
    Jenny

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  6. I will continue to pray for you Karen. I think of you often and wonder how you are doing. You are such an inspiration in your strength and faith. :)

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  7. One thing that I love about neurologists, is that they are STUBBORN in a GOOD WAY. They HAVE to get answers. They won't stop until they know EVERYTHING. They are just wired differently than the rest, ya know! I'm glad to hear they will be having coffee together. I am hopeful for you and will continue praying for you!! xoxoxoxo!!!!!!

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  8. Karen, you have such a beautiful spirit and are handling these challenges with amazing grace! Our prayers for healing are constantly wit you.
    Christy

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  9. Oh Karen, I love ya. Your hope and positivity make me look at the ridiculous things in my life that are weighing me down and gives me huge kick in the butt. Your posts make me live differently- with a more thankful heart for everything I have. This blog is a gift. You are a gift as a friend. I love you and alton and I are praying for answers!!! And healing!

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  10. Karen, you continue to be an inspiration. I'm excited to hear all the things they will do and what they will find out. The hospital sounds amazing and what great doctors to have on your side to fight for you! Have fun playing!! :)

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  11. Praying for you Karen! God has this all wrapped up and will reveal it all in good time.

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  12. I like that you embraced being at a children's hospital and got your picture taken with Ronald. I pray every day for you.

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  13. Thanks for sharing your journey. I'll keep praying! What a blessing that you have the top medical professionals on your side! :0)

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  14. Karen, you know how much I love you. You are amazing and I am going to continue to pray that God gives you lots of grace as you wait for answers.

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  15. I am praying for you and sending positivity your way and hoping upon every hope that they can figure out what's happening to you. And he was right, you ARE one tough lady!!

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  16. karen, you ARE a tough one! and by that, i mean that you are STRONG! i am so happy that you had a positive experience with the doctors and hospital staff... its all too often that they are jaded and dont desire to be helpful. your doctor seems to be determined and hopeful, so i think you should do your best to be the same!

    as for your children... personally, i think it is best to not know/focus on if they will have the same issues... but to show them how to live fully regardless of your situation. i will continue to pray for your strength (physical and mental!)

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  17. Love you Karen! Think of you often.

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  18. What a inspiring woman you are! You are in my prayers and I hope you have lots of fun playing! :)

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  19. Karen, it's me, Laure`. And I know we talked about your appointment, the docs, etc. today, but now as I sit and think about what you've written, it reminds me of what a nurse once said to me, "God doesn't give you something He knows you can't handle". I sometimes wonder if I can endure certain things that come my way - and then I see you who is doing just that - right now - in such an eloquent manner with, no doubt, faith and strength on your side. You are inspiring. I continue to send prayers your way.

    Laure`

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  20. Sending prayers your way. They will figure it out Karen, in time. I know it's such a long process and sometimes may not feel like you have that kind of time to wait. My sister was near death, went through 3 surgeries and 1 disease later. She saw the best doctors in California and Chicago. It took years. Sometimes I don't understand it but I hope it doesn't take that long for you. Don't want that story to scare you! lol I've had some experience with my family being sick, I know what it feels like. I really hope they figure it out soon. Enjoy your time with your loved ones, you have such amazing kids and a wonderful husband.

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  21. Your doctor may have meant you were a tough case, but you are DEF a tough girl, too. This is really difficult stuff. Not everyone can handle it the way you are. I can only imagine the stress and worry you must constantly be fighting.

    I am hoping and praying that someone on one of these teams you see will find the answer you need. Hopefully it'll save you and anyone else struck with a similar illness. Thinking about you, darlin'!

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  22. Thinking of you and sending prayers your way. May your doctors have the wisdom to guide you through this journey. And may you find peace even when it feels like an emotional roller coaster. : )

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  23. You have such a positive spirit and I just love that!! I will be praying for you! I'm glad that the hospital staff was amazing!!

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  24. They will figure it out and you'll have a diagnosis and the best treatment!! I hope you aren't in pain and wish I could do something more than just send positive thoughts your way!

    Xx

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