Now that I have been diagnosed with Pompe Disease a lot people have been asking what it is. Sure you can surf the internet and try to figure it out, but there really is not a whole lot of information out there and what is out there can be confusing or contradictory. I’m still trying to figure it out myself. Pompe Disease falls under the large umbrella of Muscular Dystrophy meaning that, well in the most broadest terms it weakens the muscles.
Pompe Disease is also known as Acid Maltase Deficiency which is a Glycogen Storage Disease – confused yet? It is caused by a defective gene that results in a deficiency of an enzyme. Ok – my body can’t break down glycogen so it gets stored in the muscles which weakens them and causes all sorts of problems with mobility, breathing, the liver, and heart. Basically, as my doctor put it, “This is case where your DNA let you down.”
The disease is progressive and very rare. They estimate that only 5,000 – 10,000 people worldwide have Pompe Disease. I guess I am one of the luckier ones as it is much more aggressive in children than adults, but I am far from lucky. Pompe Disease is not curable. It is only treatable and currently it is only treatable if you can get into a clinical trial as the FDA has not approved the Enzyme Replacement Therapy for commercial use in adults. I am currently trying to get into a clinical trial and will keep you posted.
I have an appointment to see a muscle disease expert at the Jacksonville Mayo Clinic on February 8. They are also going to do another EMG. I’m too happy about that part. I hope they have someone do it like they had at Rochester, someone who doesn’t torture me like they did at UCLA, then it won’t be so bad. But EMG’s are never fun. It is never fun to be stuck with needles and then have electricity sent through your body for two hours.
So with a diagnosis in hand I really hope we can discuss treatment options and get started soon, but I really have no idea what to expect with this visit. I don’t know if this doctor is going to want to run more tests other than the EMG or if he’ll be willing to jump right into to treatment. We shall see – and soon.
Now that I have been officially been diagnosed with Pompe Disease, I’m going to the movies and I ask that you do the same. Go see Extraordinary Measures this weekend starring Harrison Ford, Brendan Fraser and Keri Russell. I haven’t seen the movie yet, but I understand it was inspired by the true story of Matt Crowley who fought for a the development of ERT for his two children when they were diagnosed with Pompe Disease.
I hope this film will help spread awareness of this rare and relatively unknown disease. If nothing else, when was the last time these three actors made a movie that sucked, you’re at least in for a good flick right? What do you have to loose? And maybe, just maybe you’ll gain a little insight into what I’m going through. I don’t know, like I said I haven’t seen the movie and the disease effects everyone different and really effects children and adults differently, but I do believe it will help raise awareness for Pompe Disease so grab a friend and go to the movies.
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!
I believe we are one step closer to solving the mystery. I was trapped in bed yesterday with aches and pains and a debilitating headache so I didn’t hear the phone ring when my doctor from Mayo called. He left a message about some test results, I won’t get into too many details here until I have the opportunity to speak with him (which will hopefully be on Monday), but the diagnostic phase of my journey may be over. We may have a name for the beast that has declared war on my body and with a name we can form a battle plan. He has already contacted the muscle disease specialist at the Jacksonville Clinic so battle plans can begin sooner rather than later (again, hopefully). I hope to be able to update this blog on Monday with the name of my disease and a sigh of relief because the mask of the mystery disease has finally been lifted.
So far, the theme for 2010 is hope which has been a refreshing change from 2009 which was W#*(#&$(*#&!
My diagnosis is still unconfirmed. The Mayo Clinic is currently trying to strong arm UCLA again. They are trying to get them to release a muscle tissue sample so they can run their own set of tests on a raw sample in order to confirm a Pompe diagnosis. So that is where we are as of today. Waiting, again, but I’d rather be waiting with Mayo than with UCLA.
I’ll keep you posted.
The doctor at Mayo is taking a new approach to my headaches. He is trying a proactive approach, he prescribed proactive medication instead of just piling on more reactive pain killers. So now instead of just taking countless pain killers throughout the day and night I now take two medications twice a day which are designed to prevent headaches in the first place. He gave me no guarantee that this would work, but at least he was willing to try something new and discuss the headaches which was a lot more than that quack at UCLA was willing to do. He said to try this approach and if it didn’t work that when I transferred to the Mayo Clinic in Jacksonville for my long-term care I could see a headache specialist who would work with me and try something else, but at least we are trying something new and that is progress.
I’ve only been on this new medication plan for a few weeks and one of the medications is on a graduated scheduled. That means over the course of 4 weeks we gradually increased the dosage until I reached the maximum dosage yesterday, so the jury is still out on the effectiveness of this new combination of meds. I did spend 6 days in bed with a killer headache which began on Christmas eve, so I really can’t make a call on if this is any better or not because I wasn’t up to the full dosage at the time of that debilitating flare up. I still have my daily headaches that I “live” with, but now that I’m up to my full dosage I guess we’ll see if this new program will make a difference. But at least now I have doctors who are willing to listen to me and work with me.