A New Round of Testing

23 Sep

I go in for an unexpected round of testing tomorrow.









About a month ago I received a call from a graduate student from the department of genetics at the university hospital I go to for my muscular dystrophy. As part of her studies in genetics, she is testing a hypothesis that many people who are diagnosed with limb girdle muscular dystrophy are misdiagnosed and in reality actually have a neuromuscular disorder known as Pompe disease. (You can learn more about Pompe disease here.) She asked me to participate in a simple blood test to either confirm or rule out Pompe and set me up with an appointment for testing tomorrow.

My thoughts about this situation vary.

At first I felt slightly bothered by the phone call which went something to this effect:

“Hi Mrs. Canfield. This is —- from —– University Department of Genetics. I am a graduate student and I am conducting a study to prove that many people who have been diagnosed with your disease but have not yet had genetic testing to fully prove the diagnosis may have been misdiagnosed and may actually have Pompe disease. I’ve been looking through your chart and see that your symptoms match the symptoms of someone who may have Pompe disease instead of MD. May I ask you to confirm that you have not had any genetic testing as of yet?”

As I listened to her, I had all sorts of thoughts. I felt like that phone call was very invasive. Who is this lady to be looking through my chart and treating me like a case study? Then I remembered I am a patient at a university hospital where I signed some sort of consent form to allow her to be looking through my chart and treating me like a case study. I wondered at the potential of how many other students and professors had looked through my file as a means of study. I wondered if I was referred to as “Patient number whatever” in their review of my charts.

The truth is that I did sign a consent. I did know before I even went to that hospital that things like this could and would happen. I did know that the details of my disease could be used as a means to educate future doctors and specialists. But it didn’t take away from the loss of dignity I felt at first.

Then as I thought more on it I wasn’t as bothered by it. My participation in the study could prove that I actually have been misdiagnosed. If that’s the case, it appears there are some treatment options for those who deal with Pompe disease as opposed to no treatment for MD. It could come back negative, and at that point, the only loss on my part is eight cc’s of blood which is easily replaced. And the potential to help medical professionals learn more about difficult to identify neuromuscular disorders far outweighs any personal invasion I may feel.

So, tomorrow I’ll go and give my vial of blood, wait for the results, and see what they say.

5 Responses to “A New Round of Testing”

  1. Val September 23, 2014 at 4:26 pm #

    Hey Friend, I will Be praying for you, and whatever the result comes back will be used to magnify Christ. And I know He still in control. Love you a bunch!!!

  2. Dawn Mellor September 23, 2014 at 4:29 pm #

    Well, I’ll be praying for the best case scenerio.

  3. holly September 23, 2014 at 5:29 pm #

    Praying that there will be a treatment to help you be all you want to be for God!

  4. austin September 24, 2014 at 11:55 am #

    I can’t wait to hear what they find out.

  5. Kevin Page September 24, 2014 at 10:43 pm #

    Praying for you. I went many years as a case study till through the study I was properly diagnosed. Then they did surgery and I’m better. Thanks be to God. He will work in your life because your not just a number or a study to him. You are his child.

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