M.E.G.'s Confessional

My Mystery Disease is Pompe

Did You Know…

on April 3, 2012

Pompe Disease does not occur in adults. What?!?! That is what a neurologist recently told a patient. Again….what?!?!

A few weeks ago I was contacted by one of my cruise buddies. She has a friend whose husband is suffering from a mystery disease and has been trying to get properly diagnosed for a couple of years. My cruise buddy listened to the symptoms and asked if the woman’s husband had been tested for Pompe Disease as some of the symptoms sounded like mine. My cruise buddy directed her friend to my blog. After the woman had sifted through my ramblings about everything from headaches to accessible travel she decided it was worth considering Pompe as a possible culprit.

Armed with her new knowledge of Pompe Disease, the woman and her husband asked his neurologist if he would test for Pompe. The doctor, a neurologist, told them that Pompe does not occur in adults, nor does any other form of Muscular Dystrophy.

And this is where we pause so you can take a moment and really let that last sentence sink in.

Pause over. WHAT?!?!

The woman and her husband immediately decided they needed a new doctor. Good call. Even if this patient does not have Pompe, a new doctor who is up to date on current medical information is in order. Or at the very least a doctor who knows how to use Google.

The woman asked my cruise buddy to get in touch with me. Through a series of phone calls and emails I was able to help the woman connect with some experts in her area. I also suggested she contact the Mayo Clinic in case their diagnostic journey does not end with Pompe. The woman, armed with new information and contacts took to the phones with all guns blazing. Within a couple of days she had secured her husband an appointment with a new neurologist (one who has diagnosed and treated Pompe patients), sent his medical records off to the Mayo Clinic, and contacted Genzyme. Whatever the outcome is for this family, I have a feeling they are in good hands now. I hope their diagnostic journey comes to an end soon, so their next chapter can begin: Fighting Back!

In order to help this woman, I had to relay the situation to my contacts at Genzyme. The responses I received back ranged from “Wow” to “I gasped out loud when I read that.” There is still so much work to do regarding Pompe Disease awareness and education. I have come across several doctors, either through my own experience or through stories relayed to me by other patients, who have little information about Pompe Disease. This is the first time I have heard of a doctor giving patients really, really wrong information about Pompe Disease. Scary.

Lessons to be learned here? We can never assume our medical professionals are up to date about everything, especially something as rare as Pompe Disease. It is imperative to do your research, be your own advocate, and get a second opinion.

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4 responses to “Did You Know…

  1. Janet Hall says:

    AMAZING!!!!

  2. Katie says:

    I have Pompe disease, and I wholeheartedly agree that you have got to be your own advocate! I was diagnosed March 2010, upon results of a muscle biopsy. I am 49 now, and looking back, I think I have had this since age 35…trouble swallowing pills, difficulty climbing a ladder, or stairs, etc..(I underwent an array of tests during the following years, but nothing could be pinpointed as the culprit)..it finally got so severe, to the point that I couldn’t rise from a seated position, that I kept pushing Doctors to figure this out…it took Mayo to conclude the problem. I see many other doctors for other issues, and am amazed at those who have never even heard of Pompe disease! Please don’t give up…keep pushing until you know what is wrong…then you can “properly” fight it!!!! I now receive Lumizyme infusions every 2 weeks, and that seems to be “keeping Pompe at bay”…I will reiterate that it took a muscle biopsy in order for Mayo to accurately diagnose the disease…and though that is a painful thing, it was necessary, and though I now have a “battle scar”…it was well worth it!!!!…It’s part of “fighting back”! God bless you, and take care, and never give up!!!!!

  3. JENNA says:

    Hi its Jenna from the convention will u find me on Facebook my pc is with a dog on a chair I have really enjoyed reading your blog

    • purplelv93 says:

      Hi Jenna! It was great meeting you too! I cannot seem to locate you on Faceboook. Try looking for me: Monique Elizabeth Griffin. :)

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