2 – 4 Weeks

24 Oct


I heard back about the results from the study.

The initial test did show that I appear to have been misdiagnosed–that I may indeed have adult onset Pompe disease and not Limb Girdle Muscular Dystrophy. The remainder of the tube of blood I gave has been sent off for gene sequencing to confirm the initial blood test. I was told I should hear back in two to four weeks as to whether or not I really do have Pompe.

People have asked how does this affect me and what my thoughts are. There’s a host of emotion that I am carefully guarding myself against. Relief to have a condition that can be treated. More than slight annoyance that I had to endure not one but two muscle biopsies that could prove to have been absolutely unnecessary. Gratitude that I didn’t have to wait the normal seven to ten years to finally arrive at a correct diagnosis. Hesitant hopefulness that things could get better pitted against a faint dread that things may actually be worse than I originally thought they were.

Fear at the new uncertainties that come with the new label.

1. Uncertainty in the prognosis.

It appears that how the disease progresses is more uncertain than we were led to believe with the MD. Phrases like “progresses relentlessly” and “abrupt decline with no warning” are not particularly comforting when learning about how a disease works.

2. Uncertainty in the treatment.

I really feel like I am being a brat in saying this but I did say from the beginning I would be upfront about things in this blog. Don’t misunderstand me, please. I am super happy, super relieved that there is a treatment option for this disease. But there is a level of uncertainty in the treatment itself. Will the insurance cover the cost of the treatment? How will I be able to make time for the treatments in my already busy schedule? The treatment itself would be a four-hour long infusion every two weeks for the rest of my life. Then there would be visits to specialists for almost every body system and more tests every six months at the least. I am sure like any other disease treatment, these things will become a routine part of my life. However, now, before the actual commencement, dealing with these things seem to be a bit daunting.

3. Uncertainty in coping with the condition.

With the MD diagnosis, I was under the impression that the need for major coping strategies and mechanisms would be decades down the road. I felt like I would have plenty of time to research and “come to terms” so to speak about assistive devices and such. With Pompe, I am not quite sure how all that will play out or what will be involved in any new “coping strategies” we develop.

There are a host of other uncertainties I could list. I could choose to think on those things I can’t control. I could get so wrapped up in the “what if’s” and the “could be’s” that I miss the greater truth behind all the uncertainty.

My certainty lies in the One who does control all things.

1. When I am tempted to focus on the uncertainty of the progression of this “new” disease, I can rest in knowing that none of this is uncertain to Christ.

He is the One who is in control. He knows how this condition will play out in my life. He could remove the disease and all the uncertainty that comes with it if He chose. And if He doesn’t choose that path, not doing so must mean that He has a purpose and plan for allowing it. And in understanding that to be the case, I can rest in His care and seek to honor Him and let those around me see His working in me through the illness. And besides all that, I do have the certainty of a promise that I will one day be rid of this temporary body and will no longer deal with disease or sickness. What a glorious promise to hold to!

2. When I am concerned with how the treatment will change my life, I can trust Him knowing He will walk with me through every valley, through every victory, in every infusion, at every test, in every doctor’s office.

He has has given me the certainty that He will never leave me or forsake me. He is right there with me. I can choose to look at all the things in my life I don’t have an answer for or I can choose to set my gaze on the only true Certainty there is–Christ.

3. When I want to spend time wondering when a ventilator may come, or if this cold will develop into pneumonia, or how much longer I have until I need a wheelchair, I can focus on the One who has promised to give me grace that is sufficient for the day at hand.

I can choose not to focus on those things and rest in the grace I have received to live for Him today.


You may be dealing with any number of uncertainties. Christ is our only true Certainty in this life. He is the One in whom we can trust. We can trust Him even in the uncertain times. We can trust Him to show Himself strong in our lives.

6 Responses to “2 – 4 Weeks”

  1. Elizabeth October 24, 2014 at 12:26 pm #

    Thanks for being open and sharing your thoughts with us! I love you and I am praying for you through it all.

  2. austin October 24, 2014 at 11:04 pm #

    You are loved. Keep it up. God is at work in your life

  3. Lori October 25, 2014 at 6:48 am #

    Amen Kelli! Our whole family is praying daily and waiting for the results. We love you!

  4. sharon larocque October 25, 2014 at 9:08 am #

    Kelli your comments are exactly right & I appreciate them! One of the wonderful things we have in knowing Christ is that His assurances He gives us today will be there for us tomorrow!! He is Faithful & True…& His Grace always proves sufficient!! As when Abraham was tested, & God provided His sacrifical Lamb from Glory! ! Praise His Name!!

  5. Val October 26, 2014 at 6:22 pm #

    Love you Kelli!!! I’m excited to see what God is going to do through you!!!

  6. Patrick October 31, 2014 at 8:24 am #

    I am thankful for this post. I am encouraged in Christ by it. Thank you.

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