Blogterview with a blogger fighting Pompe disease, a rare genetic condition February 23, 2007
Posted by Bertalan Meskó in Blogging, Blogterview, Genetic condition, Medicine, Prevention.trackback
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!
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?
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.
[...] Scienceroll has been mentioned again: Rare diseases, while also not new, need to be brought back to our attention from time to time, as Science Roll does with Pompe Disease. [...]
[...] Why is it so important? Imagine a world where a child with Pompe disease doesn’t have to wait 3-4 years before the proper diagnosis and treatment… [...]
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.
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.
[...] screening, Prevention, Health, Medicine, genetics, List, science. trackback Some months ago, I wrote about Juan Magdaraog who is blogging about his struggle with Pompe disease, a rare, but important [...]
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?
I let Juan know about these questions!
Thank you, i cant wait to hear his response
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?
It’s a good question. I thought he was in the Philippines.
I would say, relatively normal life.
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.
It’s so good to hear your voice again, Juan! I hope you’re ok!
in my country we use to say : “the hope is the last thing that dies” so never give up.
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??