Fight Pompe

There are increasingly days that I feel so so… It must be the work and stress that I’ve had lately that’s contributing to my not feeling all that well.

The past few days have been ugh… so so.. Don’t really have that much energy to do things. The bad part is that work suffers as well. Last Tuesday was a particularly bad day.. I woke up late not realizing it was almost 10 a.m. For some reason I wasn’t really feeling all that well the whole day. Felt tired and to top that my stomach was hurting. Not the painful way but the uncomfortable way.

Today was a little better. Decided to work inside the office instead of the living room for part of the time. It was good to have a change of environment. I’ve been working too much in the living room that I need to try working inside the office more…

I hope the next few days are better….

Good news…. the meds arrived here in the Philippines…
Bad news… it’s yet to be cleared by customs…. given that it’s Christmas season… this might take awhile…

I was fortunate enough to have Fr. Manoling Francisco, prominent Jesuit composer say mass at our home. His sister happens to be a friend of mine and she spoke to Fr. Francisco and asked if he could say mass for the successful start of the Enzyme Replacement Therrapy (ERT) and overall good health.

Some of my family came over to share with us in offering a mass for the intentions. It was a great mass, very solemn and intimate. Father Francisco gave a good homily. Songs were provided courtesy of my cousin and his friend, who played guitars. My aunts also sang with them.

As I venture into another chapter of fighting Pompe, I’m happy to start it by offering a mass. Wherever this road takes me to I know that with God by my side I will be ok. There’s no challenge I can’t face with Him.

This year I celebrated my birthday in a…. well.. different manner. I celebrated at the St. Lukes Medical Center for a check-up. Part of the requirements to hopefully starting a new treatment/regimen to fight Pompe is getting a baseline of your current condition. Hence the need for a check-up.

Tests were done, needles were inserted, blood taken away… all part of the wonderful process of getting a check up. uuuggghhh… I especially don’t like the blood part. I don’t know if I’m more scared of the needles or the fact that I’m losing precious blood.

Anyway, apart from the regular bloodwork, ECG, 2D echo, they also din an audiology exam. What?!? I didn’t hear you…. An audiology exam… Hmmm…. Poor joke huh… From the intial results that I got I think I have moderate hearing loss…. Maybe it’s just due to a lot of iPod usage… I don’t know…

Most of the tests were done in an afternoon but I needed to fast for the last blood extraction that was done early morning. I actually thought I was going to spend most of my birthday at home because I went in the day before and I was scheduled to check out of the hospital the morning of my birthday… Alas, that was not the case. I had the audiology exam past noon already. That really sucked…

Now the tests have been done, results are coming… I’m keeping my fingers crossed that they’ll all be ok and that nothing major is wrong.

The silver lining to my otherwise boring birthday is that I have a nice family that made it bearable. Not to mention some great friends who took the time out to stop by the house when I got back from the hospital to greet me a happy birthday, as well as the rest who sent me SMS messages of well wishes.

One of my aunts said, don’t worry if you spent your birthday in the hospital. This years holds new promise for you. If all goes well, you can celebrate each day like it was your birthday. How true…

For all the griping I did, It was all just to rant… I wasn’t really all that that sad. Maybe my 28th year in this world is the start of something better.

The fight continues..

I was 10 years old when my parents started noticing that I was tripping often. Little did they know that what seemed like a simple case of flat feet will be something much bigger.

After several visits to our family pediatrician, my case didn’t seem that simple. Tests were done and at that time technology here in the Philippines wasn’t that as advanced as the United States. With the limited tests that could be done here the doctors concluded that I had a case of Duchene “Muscular Dystrophy”:http://www.mdausa.org/disease/dmd.cfm. Something years later on would be found out to be untrue.

My family had a chance to go to San Francisco, California when I was 16 years old. My parents found a Muscular Dystrophy specialist in a children’s hospital in San Francisco. The visit to the doctor eventually gave us the right diagnosis. A muscle biopsy was done and after a few weeks the doctor came back to us with a definitive diagnosis. What I had was Pompe’s disease.

What’s Pompe’s disease? I can go on and tell you how I understand the disease but that wouldn’t be fair. Instead you can read about it at these web sites, “the Pompe Community web site sponsored by Genzyme”:http://www.pompe.com/, “the AMDA or Acid Maltase Deficiency Association”:http://www.amda-pompe.org/ (another name for Pompe’s disease) and the “International Pompe Association”:http://www.worldpompe.org/. All these web sites should give you a better understanding of what Pompe’s disease.

18 years after first noticing that something was wrong with me, the fight continues. I started this blog to chronicle the continued fight against Pompe’s disease. Not just my personal fight but also the fight of the whole Pompe community against these dreadful disease. There might be only a few thousand in the world diagnosed with Pompe’s disease but that doesn’t mean that we are less important. that the value of our lives is less just because we’re in the minority. Everyone in this world has the right to life. The best possible life he/she can have. We’re only in this world once, we deserve to live our life to the fullest.

There are developments for treating Pompe’s disease. There’s hope in the horizon, something to look forward to. Journey along with me as I fight Pompe’s disease. Whether I win this battle or not, the destination is not as important as the journey.

As you walk with me through my journey, I’d like to share with you as well some of my personal insights in fighting with the disease. You may also get the chance to meet other great people who either are suffering with Pompe’s, helping find a treatment, or helping a patient go through life with Pompe. These are great people and trust me you won’t regret meeting them.

I hope to see you in the days to come. If you have any questions or just want to share your thoughts, leave a comment and I promise to try and get back to you as soon as I can.

Fight Pompe!