Mystery Solved!

The results are in and… it is Pompe Disease. I got word from my doctor at the Mayo Clinic and he told me that the tests were able to confirm a diagnosis of Acid Maltase Deficiency aka Pompe Disease.

I finally have a name for the monster which means I can finally move on to the next chapter in this battle which means actually fighting it. I have been referred to a muscle disease expert at the Jacksonville Mayo Clinic. I’m not sure exactly what will happen next or when it will happen, I have to call the Jacksonville clinic and request an appointment. There will be a lot of bureaucracy with the insurance company but my doctors are aware of that and are in my corner. There is not a lot of information out there about the availability of treatment options for Pompe Disease in adults. The ideal treatment is enzyme replacement therapy (ERT) accompanied with physical therapy specially designed for Pompe patients and possibly a special diet. But I’m getting ahead of myself – I am rather eager to get started on a treatment plan to stop the monster from continuing to rage war on my body and I’ve waited a really loooooooong time for a (correct) diagnosis so forgive me if I get strangely excited at being diagnosed with a very rare genetic disorder that is treatable, but not curable.

My new doctor at the Jacksonville Clinic will head a team of specialists who will oversee my care and determine a course of treatment. Pompe Disease hits several different organ systems and therefore several different specialists who are willing to work together and communicate with one another need to be involved with my care and Mayo is designed to operate that way.

Now with a diagnosis in hand it is up to my doctors to convince the insurance company that the Mayo Clinic is the best place for me – oh and to pay for the ERT if it is available – wish us luck! And we all thought getting a diagnosis was going to be tough! Ha! Try dealing with the bureaucracy of an insurance company and an extremely rare disease. One battle down, bring on the next!

2 comments

  1. I am so happy for you, which to some may seem weird, but I know the joys of hearing that you have something horrible wrong with you. When that “something” has a name and course of action, it’s a whole new ball game. Let me know if there is anything I can do, Jacksonville is a short plane ride, and you know how quickly I can make it to Orlando! Good luck with this new chapter of your life, I am always here for you!

  2. Well mystery solved! It’s must be a huge relief to finally know what is wrong and that there is a form of treatment! Now, we research! If you need me for anything, you know I’m there for you my sister!

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