I’m trying to leverage blogging technology to create awareness for a very rare disease that I together with roughly 10,000 registered cases around the world suffer from. Call it an experiment of sorts. Please digg it.
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One of the best things that happened to me as an indirect result of having Pompe’s disease was the chance to draw upon my experience and put it into writing. What makes it even better is that I got to write for a book.
On March 2004, “Reflections From A Different Journey: What Adults With Disabilities Wish All Parents Knew” was released in the market. A book spearheaded by Stan Klein and John Kemp and published by McGraw-Hill. The book is a collection of 40 essays written by adults who grew up with disability. With topics ranging from love and acceptance all the way to sexuality, the book is a good resource for parents who are raising children with disability. The aim of this book is to share lessons and life experiences of adults who already went through growing up with disability, in hopes that the parents can learn something and apply it to their own experience.
I’m really fortunate to have been a part of the book. It can about unexpectedly. I was one day going over an email from a mailing list I subscribed to. In that email was a call for submission of articles for the book. I decided to give it a go and that same day I sat for 30 mins and composed the article. It may seem like a short time to write an article but it’s a subject I know by heart. So putting down my thoughts into writting did not take much time. I submitted the article the same day.
I got a reply from Stan Klein a few days later saying that he received the article and was going to review it. The deadline for submissions was still months ahead so he said that it will take some time before they can decide if the article will be included.
I forgot all about the article till months after when I received an email again from Stan. I almost deleted his email because I didn’t recognize his name. Something inside myself prodded me to read the email. It was a good thing I did. Stan wrote a message of congratulations for having been chosen as one of the 40 essays included in the book. I was floored. Not only was it a great honor to be included in the book but it was also one of my dreams to have an essay published in a book.
I’ve always believed that we are put in this world to make a difference. No matter who we are and what we do, we can make a difference. Maybe not a big one but a difference nonetheless. One way I thought I could make a difference is by sharing my experiences with others in hopes that they may learn from it. Writing is a good way of doing so.
With this essay in the book, I’ve started to share my experiences with others as I’m doing with this blog. If it helps one person and improves his outlook about life, then I’d have done my job.
There’s a link on the sidebar of this blog that will direct you to amazon, if you can please do get a copy of the book. It’s a great read with lots of lessons not only for people with disability and their parents but for all. Most of the stories convery lessons that can be applied to everyone’s lives. It will also help support people such as Stan Klein and John Kemp produce more books for people with disabilies. You can also visit Stan’s site http://www.disabilitiesbooks.com and get the book there. Either way you’re helping support a good cause.
Till next time… Fight Pompe!
Ami, who weighs only 39 pounds, works in Israel as a 3D animator and creates his art despite the fact that his bodily motion is limited to a single finger on his left hand and in doing so, continues to redefine notions of a “limited” life.
Saw this item at Digg.com. Amazing. I know this isn’t Pompe related but I know Pompe patients such as myself can relate. I’m glad the Ami is living his life as best as he can. Appreciating the simple things in life and doing as much as he can with what he has. Truly an inspiration. Courage personified.
I wish him well in his bid for an Oscar. I’ll be rooting for you Ami!
So… today didn’t go as well as I planned it out to be. But all’s well that ends well.
I was hoping to have a peaceful Saturday… I had it planned out. Wake up in the morning, do my morning rituals, eat, go online, have my physical therapy in the afternoon and finally attend the PhilMUG Christmas party in the evening. Not quite…
I woke up late, to the noise of people buzzing about in the house. I wasn’t aware that there was a scheduled meeting with some of my brother and my business partners. It was also the day that our Christmas tree was being made. So the workers were here to make it. Those weren’t so bad…
I finally got finished with my morning rituals around 11:30. I went to the living room to go online. A few minutes into surfing and checking emails, I got a call from my mom. She had just came from the Doctor’s clinic to pick up the test results of my check up the previous week. She had some disturbing news. The doctor’s saw something in my x-ray. I was already made aware of this before but he only said that it was scaring and nothing to be worried about. Unfortunately the person who read the x-ray and made the formal test results apparently had a different opinion. It was noted that I had PTB or Pre-tuberculosis. What the !@#$%?!?!
When my mom got home she explained to me that the person who read the x-ray had thought I have PTB but my attending physician thought otherwise. Since I’m supposed to undergo Enzyme Replacement Therapy they wanted to be sure. My physician asked that a CT Scan be done. So we made arrangements to do that the very same afternoon.
My physical therapy was cut short because I needed to be in the hospital by 3 p.m. for the scheduled CT Scan. So by 3:30 the test was done. Just before we got home, my mom got an SMS message from my doctor. The CT Scan was all clear. Whew… Thank God…
I wasn’t worried so much that I had Tuberculosis. I knew that was treatable. I was worried about the chance that it would affect the start of the ERT. I’ve waited so long for this. The medicine is here, it’s just being processed for release and TB might be a deal breaker. Good thing that TB is now out of the equation.
God is good….
I got this “link”:http://www.post-gazette.com/pg/05320/607301.stm from the GSDnet mailing list that I belong to. It got me thinking once again.. What is the price or value of life? Who determines it?
Pompe disease is a very rare illness affecting somewhere between 5,000 to 10,000 people in this world. Granted these are the number of registered cases all over and there may be more, still this is classified as very rare. In order to create a treatment for Pompe’s, millions have been spent in research and development. Some $500 million in fact and the cost is still climbing. Now divide this by the actual number of patients and you’ve got yourself one very expensive treatment.
Now this is not exclusive to Pompe’s, there are many other rare diseases that have or will eventually have expensive treatments. One of which is Gaucher’s disease. This is the disease mentioned in the link above. Cerezyme, a treatment developed by Genzyme, the same company that is developing a treatment for Pompe disease, has been available to Gaucher’s patients for several years already. At a cost of roughly $600,000 per year. Now that’s ridiculously expensive. That’s like buying a fairly large home every year, for the rest of your life.
The question now being asked, “Is the cost of treatment worth it?”….
My answer is yes. The price of life is immeasurable. No amount of money can be equated to a persons life. It’s indeed a tragedy everytime a person dies because he/she didn’t have the money to pay for medicine/treatment.
In a world wherein Paris Hilton is given a $4 million engagement ring just to wear on her finger or probably lock up in a vault somewhere, it’s hard to comprehend why we can’t use that money to save lives. We spend so much money on consumer goods (I’m guilty of that sometimes), yet we question the cost of treatments to improve lives.
Now I’m not saying that we shouldn’t enjoy the finer things in life but I guess we as a society need to find a balance. Lives above things.
In terms of business, Genzyme is making a profit out of selling their treatments. In fact it has made good business out of creating drugs for rare diseases. I personally feel that as long as they use their earnings to fund other treatments for other diseases, it’s ok. It’s fair to get rewarded for doing good work. Just make sure that it’s not at the cost of people’s lives. I do know for a fact that Genzyme is also trying their best to make sure patients get the treatments even if they can’t afford it. With Cerezyme, they’ve worked with Non-profit organizations, charities, government agencies in order to find funding for those patients who can’t afford it. Now this is something that I hope they continue to do.
Is the price of treatment worth it? Well.. only patients can answer that. I guess it depends on what we do with our lives. The second chance we’re given. That will determine if the cost of treatment is worth it. If we strive to fully maximize our lives and contribute to society as best we can, then yes, the price of treatment is worth it. We don’t know what each person can give to this world. We just need to give them the chance to do so in order to find out.
The next Albert Einstein may just be a Pompe patient….
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.