Recently, I’ve had a post on Pompe disease, a rare, but important genetic condition. Juan, at fightpompe.com commented the post, then I asked him to answer some of my questions. Juan is blogging about his fight with Pompe disease. There are about 10,000 Pompe patients in the world. The diagnostic delay and the misdiagnosis deprives these patients of proper and early therapy. We hope we can call attention to this condition.
- Please tell us about your condition and the misdiagnosis.
My name is Juan Magdaraog. I suffer from the juvenille/adult onset of Pompe Disease. Pompe disease first manifested itself when I was around 10 years old. At that time no one in the Philippines knew what it was. In fact I was misdiagnosed till I was about 15 years old. The first diagnosis was Muscular Dystrophy. It was only when I had a chance to go and see a Muscular Dystrophy specialist in San Francisco that a proper diagnosis was made. The verdict, it was Pompe Disease.
I’ve been dealing with Pompe Disease for quite a long time now. 19 years as of this writing. It’s been a tough life. Filled with a lot of challenges and difficulty. Despite that I’ve managed to do a lot of things.
- Why did you start to maintain a blog on Fighting Pompe?
I wanted to advocate for Pompe’s disease. I’m not a scientist or a doctor so I didn’t want to talk much about medical terms and/or statistics. I wanted to share what it’s like to have Pompe’s disease . I wanted to show people the human aspect of the disease. All diseases have a human aspect, how it affects our lives. I wanted to show that.
I felt the best way to advocate for Pompe was to share my life and my struggles as well as my victories. Pompe is a part of my life but it doesn’t have to define me. There’s more to me than Pompe. I wanted people to know that despite dealing with a devastating disease, there’s still life beyond that.
- I’ve had a post on Pompe, and I’ve listed the main characteristics of the condition. Which of them do you have to struggle?
Having the Juvenile/Adult type of Pompe, I’ve had to deal only with the skeletal muscle weakness. My heart and liver seems to be unaffected or not very severely or significant to warrant symptoms. My biggest problem right now is the respiratory muscles. I don’t mind not being able to walk. I can live without walking but I can’t live without breathing. That’s always a cause for big concern.
- What do you find the most important point in Pompe’s diagnosis? How could we help the patients and physicians?
The most important thing for Pompe patients or any patient for that matter is to get a timely and accurate diagnosis. The earlier a Pompe patient can be diagnosed, the better it is. We’re at a point in time wherein there’s a therapy that’s available for Pompe patients. The sooner patients are on the therapy the less severe the symptoms will get. If I was diagnosed properly at the time the first symptoms manifested and I was put on the Enzyme Replacement Therapy, I could still be walking now. So it is important to get the diagnosis as soon as possible.
Information is the best thing we can do to help patients and physicians. As a Pompe patient the best thing I can do is share my experience in hopes that people will learn from it. That’s what all patients should do. While there is a concern about privacy I felt that my privacy is not as important as helping others. As such I’m always happy to talk about my disease and how it affects my life.
- What do you like to do in your sparetime?
I’m just like your normal 29 year old. I like things that most people my age like. I like watching movies, surfing the internet, hanging out with my friends, etc. I love Apple and Ferrari. Those are the two things I am big fans of. I like watching Formula 1. I love my Mac. I like technology in general and spend time reading about it. I spend a lot of time talking with friends. I just like being around people.
- Do Myozyme infusions help? How do you feel now?
Myozyme is a not a magic drug that will instantly help Pompe patients jump up and down. I’ve been on it for a year and 2 months. There have been no miraculous improvements but I am happy to say that for the first time since I was born, this year is not worse than the last. Meaning my physical state has not gotten worse over the past year. That’s tremendous by itself. In some aspects I’ve even improved. I’ve regained a tiny bit of strength in my arms. My voice has gotten a bit stronger. To a certain extent my breathing is a bit better.
I still have a long way to go.
- What do you expect from the near future?
As long as I get to continue Enzyme Replacement Therapy, I’m expecting to steadily improve. As more glycogen gets cleared from my cells and as I put more effort into exercising and eating a more balanced diet, I hope that my body starts repairing what it can. I’ve being exercising more consistently the past 2 months and I’ve seen some improvements in my arms. The muscle tone is slightly improving. From being flabby to becoming a little firmer.
I am not expecting any miracles in the future. I’d be happy to regain some upper body strength. The most I’m hoping for right now is to get off my Bi-Pap machine even if it’s just during the day time.
Thank you, Juan for the answers and keep up this kind of fantastic blogging!