Thursday, December 22, 2011

Still searching for answers

*If you are new here, you can read more about my health here or here.

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As usual, the nerves set in the night before wondering if we will get any answers.  My last appointment was back in July and a lot has happened since then.  When I get nervous, I notice I talk a lot.  About very random things, just keeping my mind occupied.  My apologies to my husband... thank you for your patience!  Time for a deep breath to let the worry out and the calm in.  

Driving to the appointment
The day before my appointment at UCSD I received an e-mail that read, "We still don't have your results but you can come see the doctor anyway."  These are results from a muscle biopsy that we have been waiting on for months.  I already had appointments canceled and rescheduled because we have been waiting for these results.  All of our hope for answers lies in these results.  We decided to go to the appointment anyway...

We headed out for the appointment bright and early, unsure of what the day would hold.  We took in all the beauty around us and enjoyed just driving down together.  Watching the sunrise kept me calm.


We met with the doctor and witnessed a miracle... in walked the test results!  (they were dated last week so I'm not sure why they thought they weren't in yet)  I guess it was more dramatic this way :)  The doctor looked over the papers and was quite confused.  He handed them to us and we looked.  I searched very hard for a single word that I might understand... I couldn't find one.  Anthony asked for an interpretation and that's when our bubble burst.  The doctor said that the results are difficult to interpret and it is still not clear what is going on.  The genetic abnormalities I have still don't make sense.  We know that my mitochondria are malfunctioning but we can't figure out why.  We did more blood work and will have further testing done but we left the office visit so confused.  Not a waste of time like we originally thought because those infamous results did come in but we felt deflated.  Now what?


The very next day I had my appointment at Children's Hospital with the muscle clinic and MDA.  We held on to the hope that this neurologist would be able to figure it all out.  First we met with Jessica.  She is beyond awesome.  She is the go to gal that gets it all done.  Next came Rick who delivered my motorized chair.  He wanted to make sure everything was working out well.  After Rick, we met KC, the physical therapist and then a social worker came in followed by the geneticist.  I wanted answers.  I know I am sick, they know I am sick but I really need to know why.  My reasons for needing to know are 5 years old and 7 years old.  I need to know if I passed this genetic disease on.  Unfortunately, the geneticist could not give us any answers.  It is still unknown if I spontaneously acquired this or if it was passed down from family members that carry the gene but don't have any symptoms.  Because my test results always come back funny, we can't get a definitive answer.  I almost started crying at that point but I held it in.  Jessica came back in and told us more of what the MDA has to offer.  She asked what kind of activities we enjoyed and I told her I like sitting at home because that is all I am comfortable doing.  So she asked what we did before I got sick.  We told her about our boating, waterskiing, camping, hiking beach going days.  I got a little teary eyed thinking about what we used to.  She told us that there are many places we can go and activities we can do that are adaptive.  I don't have to give up my lifestyle because of my muscles.  Then, she asked how the kids and my husband were handling all of this.  That is when I lost it.  They are handling it great, they really are but they have had to give up so much and I didn't realize it until we talked about what we used to do.  We were so active and personally, I am still ok with the fact that I can't do what I used to be able to do.  But realizing the kids aren't getting to do what we used to do hit hard.  So hard that I kept crying, wiping my tears away with my shirt sleeve just for another flood to come down.  I calmed down, took a deep breath and the doctor came in.  Come on doc, give us some answers.  Nope!  He said that my other neurologist that I saw yesterday is an internationally renowned mitochondrial specialist and if anyone could interpret and understand my results it would be him.  He did however give me a lot of hope.  Whether he filled me with hope because Christmas is in a few days or because he honestly believed it, I listened.  He feels there is a possibility at arresting this if we can find the right cocktail.  He would like another biopsy done to see if we can get a clearer picture.  So for now, we wait.  We wait to see if things get better with all the medication and therapy.  Or we wait to see if the disease progresses and gives us a clearer picture.  You may just see me on Mystery Diagnosis.


I have more love than I could ever have imagined having.  I have so many prayers that I am so grateful for.  I have a beautiful, blessed life that I am lucky enough to share with amazing people.  I am grateful for the good health that I do have.  I don't have answers but it just means it is not time for me to know.  I went into these appointments this week looking for a Christmas Miracle and I arrived home realizing my miracles were right there in front of me.

I wish you all a very blessed Christmas with your loved ones.

30 comments:

  1. Karen, beautiful perspective on such a challenging life trial. You know that I am praying for you. Love you.
    Katie

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  2. Karen,
    I loved reading this post. You will be such an inspiration to a lot of people that may be going through some life challenges. You know what matters most and you have faith that God will get you through this. I am facing a sickness that I am trying to get answers to also. I have been to multiple doctors, had numerous tests done and they can't find anything. I am just pressing forward serving God, others and putting faith in Him that He will help me get through this rough trial.
    Keep holding on! I will be praying for you :)

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  3. where is the real Dr. House when we need him? one hour tops-- lots of rudeness to put up with but answers are found. ;) so glad you have support for this 'new version' of life... your momma heart is a beautiful thing! :) your family is blessed to have you! :)

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  4. I can't imagine how frustrating all of the waiting and not knowing must be! I am continually praying for you girl! Have a very Merry Christmas with your beautiful family!! XOXO!!

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  5. You are right - you probably will be on Mystery Diagnosis some day. It astounds me that there are still diseases that doctors can't treat, much less just diagnose. I hope you get your answers though. I can only imagine how frustrating and isolating it is not having a name and a cause for what you have. I'm so glad you have such a strong family standing beside you though. I hope you all have a VERY happy Christmas!

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  6. Your hope and faith is so inspiring. Sending many thoughts and prayers your way at this time and wishing you a beautiful Christmas! :) Those pictures are breath-taking!

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  7. Karen, you are phenomenal. You and your family are enduring so much and you just keep truckin' along.... you amaze me and give me strength and perspective about my own life.

    I can feel your frustration in not knowing when I read this and I would feel the exact same way. I liked what you said though when you said it's just not the right time to know yet. I feel as if God is going to put the right person in your path of life at just the right time and that person will be the key.

    Your patience is a testimony to your faith Karen. It warms my soul to see it.

    I'll be praying for you still...

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  8. Oh Karen, you are truly an amazing young lady full of the love of Jesus! Trust, faith and hope - you have all three. Your post made me tear up -- so I will cry with you AND I will rejoice with you as well. Rejoicing in knowing the LORD has a bigger plan for you and your family. May the blessings of this Christmas be upon you and your family! love to all of you, Dotty

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  9. Karen, I will keep praying for you for some kind of answer. You have such wonderful perspective and are always so inspiring. Wishing you a wonderful Christmas and a New Year filled with all the answers you desire. :)

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  10. Karen,
    You are so eloquent and strong in the face of such challenges. You are an incredible woman who deserves all the love you have in your life. You are beautiful inside and out. I hope you can get some medical answers soon. Take care. We love you all.

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  11. I hope you get answers soon. Sounds like there is hope. I will pray for you right now. Merry Christmas hon!

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  12. wow...i am thinking and praying for you...i hope you and your family have a marvelous christmas. :)

    xo
    purposelyathome.blogspot.com

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  13. Thinking about you and your family and saying a prayer for all of you. May you have a blessed Christmas.

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  14. Well I just sobbed with you, I feel like we "know" eachother and I want to take it for you. But I'm so glad to read that the best doctors are on your case and that they will figure it out. I hope you are pain free and get to enjoy the holidays with those you love. Like your twin! I get to see mine in 4 days. EEK

    xx
    Tab

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  15. i can't imagine how hard it is for you to not know... especially for your kids. i will continue praying for you (and your doctors!). don't lose faith, karen. you are so, so strong!

    merry christmas to you and that sweet family of yours!

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  16. Karen- My girls and I pray for you every night....and will continue to pray that you get answers. You are an amazing mom....hang in there. Merry Christmas to your family :)

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  17. Karen, My heart sunk for you when I read this. I've been waiting to hear your update and hoping for great news. You are so blessed to have such an amazing team of medical professionals who are fighting for you. I can only imagine how disappointed you must have felt. And what a moment that was to have your test results walk in while you were there. I have no words. Just know that I am thinking of you and will keep praying. I wish I was there to give you a big hug. I am doing a follow up post on my blog to keep those who are praying for you updated on your journey. Lots of love to you. Happy Holidays to you and your family.

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  18. I just got the chills. I am always thinking and praying for you! Reading your story is truly a blessing. I have learned so much about appreciating my time here on earth. Love you my dear friend!

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  19. oh, i love you. always praying.
    merry christmas, karen! xo

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  20. Karen, you are a beautiful person inside and out! I have been praying for you constantly since I first read your story and will continue to pray that you get the answers you need! xo Merry Christmas to you and your family! xo, Reannah

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  21. I've been wondering about how this was going? Karen, I love you & continue to pray for you.
    Merry Christmas to you & yours!

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  22. I was wondering what was going on. Disappointed with you that the doctors didn't have any answers for you, but know that the Great Physician isn't stumped. Just He would let you all in on a little bit more. You are in my prayers and keep trusting His timing.

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  23. That was supposed to be, "Just wish He would let you all know a little bit more." Oops

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  24. Wishing you and your family the Merriest Christmas!!

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  25. I'm new to your blog but you strike me as such a brave woman. Merry Christmas to you and your family!

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  26. I hope you have a beautiful Christmas and I'm so sorry for everything that you've had to go through - but you have such strong faith and perseverance!

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  27. Dear Karen, my daughter Salena Lee from "A Little Piece Of Me" posted about you and I just read your post on Dec. 22, 2011. Thank you for sharing your life with us. You are very brave and a great example to your children. Life is not easy and having to deal with your health situation and having two young children is challenging. It is nice that you have a husband who is supportive and by your side.

    Your children are beautiful. God is with you each day and your faith in him will strengthen you during this challenging times. I hope you and your family had a beautiful Christmas. Your husband is a Firefighter and my husband is a Police Officer in Hawaii. Both of them are providing services that protect us all. They are ready to help us when we are in need. There are some thing's in life that we must deal with and God will always be there to comfort you and strengthen you and provide for you in different ways.

    I pray that you will get the answers that you need from the doctors and get
    the medical help that will improve your health and quality of life. May God watch over you, your husband and children. I hope that my words will be of some comfort to you. Wishing you and your family a very Happy New Year, full of happiness, special times together and the best health. Best wishes, Diane (Mililani, Hawaii)
    to

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  28. Karen, I love reading your heartfelt postings. You encourage and inspire me. I think of you often and pray for you too. Have a blessed new year!

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  29. Man oh man. I was hoping for something different. I've been so busy lately and haven't kept up with my blog and have been wondering how you've been feeling and what the drs have been saying. :/ PLUS, I just miss you girl! I will continue to pray for you, and your whole family. Remember that they love you not for the activities you do with them but for WHO YOU ARE. And you my friend, are wonderful!

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  30. I totally know what you are feeling...I fell the other day and have been in a lot of pain....I am currently undergoing testing to see if I have another autoimmune disease, I already have sjogrens...they think I may have MS...and it kills me, not knowing...I pray YOUR prayers are answered and your heart finds peace until then...big hugs friend!
    xoxo

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