Comments on: Blogterview with a blogger fighting Pompe disease, a rare genetic condition

By: Quantum Confidence Review

Quantum Confidence Review — Wed, 02 Mar 2011 04:18:24 +0000

Never heard of this. My cousin has Bechets though – nasty.

By: joy

joy — Mon, 08 Nov 2010 01:29:13 +0000

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.

By: Khalid Darwish

Khalid Darwish — Tue, 17 Aug 2010 06:02:14 +0000

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.

By: pj

pj — Sun, 25 Apr 2010 06:30:46 +0000

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

By: pompe disease

pompe disease — Thu, 18 Feb 2010 03:20:08 +0000

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.

By: patricia wagner

patricia wagner — Sun, 03 Jan 2010 00:21:06 +0000

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

By: Geri

Geri — Tue, 19 Aug 2008 02:17:42 +0000

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

By: Mary

Mary — Sun, 15 Jun 2008 16:31:15 +0000

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??

By: maria

maria — Sun, 03 Feb 2008 10:15:35 +0000

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

By: Bertalan Meskó

Bertalan Meskó — Tue, 01 Jan 2008 19:14:39 +0000

It’s so good to hear your voice again, Juan! I hope you’re ok!

By: Juan Magdaraog

Juan Magdaraog — Tue, 01 Jan 2008 13:05:28 +0000

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.

By: Bertalan Meskó

Bertalan Meskó — Wed, 07 Nov 2007 19:47:09 +0000

It’s a good question. I thought he was in the Philippines.

I would say, relatively normal life.

By: family portrait artist

family portrait artist — Wed, 07 Nov 2007 07:36:56 +0000

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?

By: Mitchell Kiah

Mitchell Kiah — Mon, 18 Jun 2007 01:02:34 +0000

Thank you, i cant wait to hear his response

By: Bertalan Meskó

Bertalan Meskó — Sun, 03 Jun 2007 16:53:15 +0000

I let Juan know about these questions!

By: Mitchell Kiah

Mitchell Kiah — Sun, 03 Jun 2007 14:44:50 +0000

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?

By: 10 Tips: how to search for genetic diseases « ScienceRoll

10 Tips: how to search for genetic diseases « ScienceRoll — Sun, 27 May 2007 20:12:29 +0000

[...] 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 [...]

By: Juan Magdaraog

Juan Magdaraog — Mon, 26 Mar 2007 15:53:26 +0000

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.

By: David Coffman

David Coffman — Mon, 26 Mar 2007 12:35:56 +0000

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.

By: The Human Variome Project: new horizons in clinical genetics « ScienceRoll

The Human Variome Project: new horizons in clinical genetics « ScienceRoll — Wed, 28 Feb 2007 16:37:33 +0000

[...] 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… [...]