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Blogterview with a blogger fighting Pompe disease, a rare genetic condition

profile_pic.jpgRecently, 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!

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26 Comments Post a comment
  1. sciencesque #

    Good luck to you Juan. It’s good to hear that progress is being made. I have a question – what is involved in the Enzyme Replacement Therapy? Is it simply a pill, or injections, or more complicated yet?

    February 23, 2007
  2. Thanks Sciencesque.

    Enzyme Replacment Therapy is very simple. The preparation part is a bit tedious but not too complicated. The enzyme is placed in an I.V. bag then administered like a typical I.V. infusion. The rate will depend on the patient.

    My infusions usually last 3 hours or so.

    February 23, 2007
  3. David Coffman #

    Hi Juan,My name is Dave and from Los Gatos CA.My son Jacksen who turned 2 yrs of age on feb13 07 was diagnosed w/Pompe disease on March 2nd.He was given 12 yrs to live by our team of doctors at Stanfords Lucile Packards Childrens Hospital.Today is March 27th and he is now on the bi pap at night and just had the “G TUBE” operation for liquids only due to a weak Trachea.He will be starting E.R.T. on April 11th.We are scared that he may have a reaction or or have the lgg antibodies and a number of other worries.What was your reaction to Myozyme if any?Do you recommend the hi protien diet w/amino acids and alinine and lucene suppliments?What are your thoughts on the gene therapy trials that are ongoing and would you ever enroll in any of those trials?

    I found your stories on the web when i first found out about this disease.I find them very positive for the patient and the parent.Your strength gives others strength.Dont ever let down your guard w/this disease,your in our prayers.Thank you for your time.

    March 26, 2007
  4. Hey David,

    Thanks for leaving a message here at ScienceRoll.

    First things, first, I hope your son is doing ok. The E.R.T. should help him a lot. I know that infants on the E.R.T have done well and lived beyond their expected lifespan. So I have no doubt that your son will live past the 12 yrs.

    My experience with E.R.T. has been a positive one. It kept me stable this past year. I have had no reactions up till now. So pray for the best and hope that all goes well. Even if he has a reaction, they will try some things to keep him on E.R.T. such as premedication with anti-allergy medicines, etc.

    I recommend the high protien diet but it needs to be high fat as well. I’ve been on that diet and it helped me a lot. It helped me put on weight and maintain it.

    Gene therapy trials in my opinion are still a long ways off. If I’m presented with a chance to enroll in a trial, I will seriously consider it. I will weigh my options, see how I’m doing at that very moment and base my decision on that. As it is right now, I’m still inclined to just continue E.R.T because Gene therapy is still relatively new and the side effects aren’t well documented yet.

    I’ll be praying for your son as well as the rest of your family. God Bless.

    March 26, 2007
  5. Mitchell Kiah #

    I dont know much about this disease from any point really, but this is the first helpful website that shows how Pompe Disease affects daily life. I’m doing a school projct on Pompe disease, and I know its slightly rude coming to you when so many other people seem to need your time for better reasons, but i was wondering if you might mind me asking a few questions:

    1. Has pompe disease confined you to your house or are you still able to get around outside of your house?

    2. You said you love your Mac, do you spend a lot of time playing videogames or would you rather spend time with friends and family?

    3. How has your condition affected the way others treat you?

    4. How often do you have to get E.R.T transfusions?

    5. Do you hold a lot of contempt for the docter that misdiagnosed you?

    6. Have you created other blogs/groups to spread awareness of the disease?

    June 3, 2007
  6. I let Juan know about these questions!

    June 3, 2007
  7. Mitchell Kiah #

    Thank you, i cant wait to hear his response

    June 18, 2007
  8. Is Juan still in the Philippines or is he staying in San Francisco? Just like what Juan said, such disease is not so famous in the Philippines and perhaps very few doctors are aware of its symptoms.

    Does ERT guarantee you a virtually normal life despite of your health condition?

    November 7, 2007
  9. It’s a good question. I thought he was in the Philippines.

    I would say, relatively normal life.

    November 7, 2007
  10. Sorry for the late reply. I just checked this one out. I still reside in the Philippines. I do have relatives in San Francisco.

    Depending on the extent of the disease when you get the E.R.T. that will determine how normal your life can be.

    I’m not sure if I’ll ever be “normal” since I lost so much muscle mass already. But I’ll take any improvement that I can.

    January 1, 2008
  11. It’s so good to hear your voice again, Juan! I hope you’re ok!

    January 1, 2008
  12. maria #

    in my country we use to say : “the hope is the last thing that dies” so never give up.

    February 3, 2008
  13. Mary #

    Juan,
    As the grandmother of a three-year old granddaughter who was diagnosed with Pompe disease, I really appreciate what you are doing. Maddie was diagnosed with an enlarged heart at 6-months. Even though the cardiologist sent her to a neuromuscular specialist at this time, inadequate tests were performed. Finally, when she was about 18 months old a muscle biopsy proved muscle wasting and she was diagnosed with Pompe disease. She has been recieving Myozyme treatments since then at Children’s Hospital in St. Louis, MO. Her heart has shrank to about the normal size for a child her age. She looks very healthy but they are going to be putting braces on her ankles to help with pain and muscle weakness. I too think an earlier diagnosis would have helped considerably. She has developed antibodies to Myozyme but there have been no severe reactions and she continues to receive treatments. Keep up the good work and hang in there!!! One question, she needs a genetic study but Medicaid will not approve it, any suggestions??

    June 15, 2008
  14. Geri #

    What tests did they use to diagnose this disease? I am thinking that I am an undiagnosed person.

    August 19, 2008
  15. I was diagnosed with Pompe’s disease in June of 2009. For the past 20 years walking, moving, breathing, stairs, lifting a plate from a shelf has worsened each year. In 2003 and 2004 I was diagnosed and treated for breast and uterine cancer, but my major complaints were that I could no longer straighten up, ( I walked hunched over), I had no strength, fatigue, shortness of breathe, etc. etc. I was in the radar of many doctors and Mass Gen. Hospital, who told me it was arthritis, depression, overweight, side effects from chemo and radiation. I desperately need to talk to others in my situation for advice, coping and understanding, Please contact me, and pass my name to others. TxU

    January 3, 2010
  16. I had just been signed a project in school on Pompe disease. I’ve learned so much. I have so much respect for Juan and all the others fighting Pompe disease. You all are very brave.

    February 18, 2010
  17. pj #

    Is there a special diet for Pompe’s disease? How do I find out about it?

    April 25, 2010
  18. Khalid Darwish #

    I’m not a Doctor, nor am I a nutritionist. However, I was diagnosed with a late onset Pompe’s disease, and I heard a lecture given by a nutritionist at a Pompe’s event, which took place at Columbia university Medical center? The nutritionist stressed that a good diet would be increasing the intake of protein, and lowering the intake of carbohydrates. He also recommended taking a supplement called Alanine, which is a kind of amino acid that can be purchased at GNC, or Vitamin shop, or perhaps online. I don’t know however, if Alanine and Beta-Alanine are the same. Just make sure you get the amino acid that says Alanine if it exists without the Beta, because I didn’t hear the nutritionist mentioning Beta-Alanine. All I’ve heard the nutritionist referring to is an amino acid called Alanine. In any case, consult this with your Doctor. Ask him/her if Beta Alanine and Alanine are two different supplements of amin acids.
    The nutritionist has also recommended that in addition to following such a diet, it helps that patient exercises lightly, like walking or doing any kind of light exercise for about 45 minutes, three times a week. The nutritionist has also suggested the consumption of protein at night before going to sleep and by getting up at night and consuming protein to help recuperating the muscles which tend to mutate during a sleep. The result of doing so would contribute to healing the mutated muscles, which would enable one to function better, in terms of mobility in the morning. Needles to say, that getting the enzyme treatment must be on the top of it all. I pray and hope that one day an effective treatment is discovered to put an end for this rare disease for once and for all. Believe me, it is there; and, it is yet to be discovered.

    August 17, 2010
  19. joy #

    Hi! I have seen 7 specialists for over a year and they cannot yet some up with a final diagnosis. They say that tests are suggestive of a form of muscle disorder. I was advised to seek the help of a neuromuscular specialists for biopsy and I am having a hard time finding one here in the Philippines. I wonder if you can help me. Can you recommend names and where I can locate them? I can feel the disease progressing. I cannot do what used to be simple tasks anymore.

    November 8, 2010
  20. Never heard of this. My cousin has Bechets though – nasty.

    March 2, 2011

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