Team Hoyt

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I was browsing through “Digg.com”:http://www.digg.com today. I was going through the videos section when I chanced upon a link to a google video titled “Can”. The title of the story on “Digg.com”:http://www.digg.com read “Strongest Dad in the World!!! Absolutely amazing! Must See!!”. Something inside me made my finger click on the link.

Amazing! That’s all I can say about the video and the story of “Team Hoyt”:http://www.teamhoyt.com/index.html.

There are stories that inspire you. Stories that truly touch something deep in your heart. Stories that make you think and say to yourself that the human spirit is such a wonderful thing. It’s capable of climbing insurmountable obstacles. Rick and Dick Hoyt’s story is one of those.

Rick was born with a severe disability. He has cerebral palsy and is a spastic quadriplegic. He also can’t talk. He uses a special computer to communicate with people.

Dick is a loving father commited to making sure that his son Rick, lives the best life he can. When doctors told Dick and his wife to place Rick in an institution because he wouldn’t be able to do anything when he grew up, they said no. They brought Rick home and raised him like any normal child. The same way they did for their two other sons.

In 1977 Rick told his father that he wanted to participate in a 5 mile benefit race for an injured lacrosse player who was paralyzed in an accident. Dick who was hardly a long distance runner agreed to push Rick in the race. They finished second to last but that didn’t matter. Later that evening Rick would tell his dad something that would change their lives forever. Rick said “he just didn’t feel handicapped when we were competing.”.

For more than 25 years now, father and son have been competing in various marathons, triathlons and other gruelling races to spread their message across, “Yes You Can”.

This story struck me because in some way I can relate to it. Like Rick I also managed to finish school despite the odds. I’ve gone on to lead a productive life. While I’m far from being the athlete that they are nor am I the ambassador for people with disabilities such as they are, I’m inspired to do what I can. Maybe one day I can do as much as they can. I promise to give it a go.

Like Dick, I also have a loving and caring father. That goes the same for the rest of my family. While my dad didn’t carry me, push me or pull me in gruelling races, he did push, pull and carry me through life. His sacrifices, hard work, perseverance and never-give-up attitude made me who I am today. For that I am eternally grateful.

This blog entry is dedicated to Team Hoyt and all the families out there who continue to battle through life dealing with disabilities. Their strength and perseverance give me hope and inspiration to carry on. Their stories fuel my motivation to turn my life hopefully into a story like theirs.

Watch the video “Can” either on “Google Video”:http://video.google.com/videoplay?docid=2306376850295808016&q=dick+hoyt or “You Tube”:http://www.youtube.com/watch?v=WjPrL3n63yg or read about them in this “CNN Article”:http://www.cnn.com/US/9911/29/hoyt.family/index.html.

Visit the “Team Hoyt Website”:http://www.teamhoyt.com/history.shtml as well and read about their fantastic story.

Infusion Reloaded (17th)

I’m back on track with my infusions! Hooray for that!

I finished my 17th infusion today. It went really well. My body cooperated and we had no problems today. I missed my doctors after a month of not seeing them. I tell you, it’s always a pleasure to go through the infusions because of the great people I spend time with. It’s always fun to talk to my doctors and nurses.

My room this time was really nice. It had new furniture. Well ok, not as nice as most private hospitals here but it was good enough.

After skipping an infusion, I don’t know if it’s just my imagination or it’s really the effect of the enzyme but I do feel different. The past week I was feeling tired and sluggish. I felt as if I have no energy. I would wake up still feeling tired. After receiving the infusion today I feel much better. My body feels a bit more lively. Is it just imagination or the effect of the enzyme? I’m not reall sure. Some of the patients I’ve talked to said that even if they skipped an infusion they really don’t notice any difference. Oh well.. The good thing is I’m feeling good again. I hope it continues.

V-Mall Trip

I found myself in V-Mall yesterday for the first time since it opened. It’s quite ironic since V-Mall is like 5 mins walk (or roll in my case) from where I live.

I live in a place called greenhills. The building where I live in is near the commercial center. It’s a popular commercial area here in Manila. Ever since I could remember people have been going to Greenhills to shop. I used to go there a lot before we moved to that area. Then when we moved to Greenhills I suddenly found myself not going as much. I don’t know why. Maybe it’s because since it’s near it’s not that appealing anymore. Maybe I just took it for granted.

Anyway, yesterday our home was scheduled to have pest control services done. It was set at 2:30 p.m. Usually when pest control is done I just go out of the unit and stay in the hallways until it’s ok to come back in. I haven’t been out of the house much the past two weeks since I’ve been sick so I decided to go to V-Mall and have a look see. They just renovated it. It used to be called Virra Mall and now it’s named V-Mall. Also one of the reasons I didn’t go there before was that Virra Mall didn’t have an elevator. So I was confined to the ground floor. They put in an elevator during the renovation. So I could now go to the upper floors.

I met my dad in V-Mall. He was having his car washed in a place near that as well. We went around the mall checking out the stores. I was interested in seeing the computer and electronics section on the third floor. That’s where we spent most of our time. Checking out new stuff.

I made sure to visit two of the stores that I’ve head a lot about. The first is Digital Walker, owned by my friend and fellow PhilMugger Charlie Paw. I’ve bought some stuff from them but I just asked someone to go to the store.

The next store I visited is iStudio. It’s a new store that sells Apple stuff. The store is also owned by a fellow PhilMugger. It’s a nice store. One of the owners came up to me and introduced himself. He asked if I was from PhilMug as well. I said yes.

Below is a picture of me infront of a bookstore. I’m a bit funny looking in this one…

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Infusion Setback

I suffered my first major infusion setback ever since starting the ERT. As I said in one of my previous post’s “Infusion Postponed”:http://www.fightpompe.com/article/89/infusion-postponed I got sick with some kind of bacterial infection. This resulted in a cough and fever. I was sick for almost a week. Not a good feeling. I hate being sick. Especially if it affects my respiratory health.

I thought that my infusion will only be postponed and that I can take it this week. Turns out not quite so. I had to skip this infusion as well. I’ll be resuming my regular infusions next week. The reason being, if I get my infusion this week, I have to skip my regular schedule next week because they can’t give it in succession. I’ll be waiting another 3 weeks to get back into schedule. I’m alternating with other patients who are also receiving ERT although for a different disease. Thus I have to stick to my schedule.

I told my doctor I’d be more comfortable skipping this one so I can go back to my regular schedule sooner. I also didn’t think it’s a wise decision for me to go to the hospital this week since I just recovered from my bout with the infection. My immune system might still be low and that I might catch something while at the hospital. I decided to play it safe.

So there, I missed an infusion session… From all the people I’ve asked there doesn’t seem to be a huge difference if I miss this one. I should be ok.

Interview: Tiffany House

!/images/22.jpg (Tiffany House)!

I’m proud to bring you the second interview for Fighters. Tiffany is also one of the Pompe patients that I consider a close friend. Even though we haven’t met in person I feel a closesness with her. It’s probably because of all the patients I know she’s one patients close to my age. So our state of mind is closer.

She’s a strong person who’s been at the forefront of the Fight against Pompe. She and her family have done so much for Pompe. They started the “AMDA”:http://www.amda-pompe.org which provided a lot of support for Pompe patients.

So please read on and enjoy our conversation.

*Juan:* Please tell us a little something about yourself, a brief background.

_Tiffany:_ Well, I am the oldest of three children at 23. I was diagnosed with Pompe the week before my 12th birthday, and as of right now I have been receiving ERT for over 7 years. My parents also formed the AMDA in the year after I was diagnosed to aid in finding a treatment for Pompe disease.

*Juan:* How did you feel when you were diagnosed?

_Tiffany:_ To be completely honest, I don’t really remember a lot about being told I have Pompe. I remember traveling to Minnesota with my mother, having a lot of tests done at the Mayo Clinic (including a very painful muscle biopsy), and then having my life be different. I had to cut carbs out of my diet, eat a lot more protein. I started using a bi-pap. At first, I felt the same, just, all of a sudden I was told I had this disease. I don’t ever remember being in denial, but I do know that it was hard to adjust. For instance, I never told any of the kids I went to school with that I had been diagnosed with a rare disease, and when I first started using a bi-pap I didn’t even want my brother and sister to see me with it on. I didn’t want people to suddenly look at me differently-I was still the same person. As time has passed, I have become a lot more comfortable talking about the disease, and my limitations, and letting people see me with the bi-pap, but at first it was a very private thing that I didn’t know how to talk about.

*Juan:* How was it like growing up with Pompe? Having to gradually lose your physical abilities?

_Tiffany:_ It was hard. I declined very fast in the year following my diagnosis, and by Feb-March 1996 I was no longer able to attend school. At that point, my life “shrunk” to include only my family, some close family friends, working out with a personal trainer, and receiving schooling at home by two home school teachers.

Looking on the bright side, I made two lifelong friends during this time (my math tutor, Tiffany, and my trainer, Jordan) but it was also a very hard time. I was starting to feel weaker and weaker, I was developing very severe scoliosis and the activities outside of the home that I could attend were getting fewer.

By the time I left to go the Netherlands to partake in the clinical trials, I was barely able to walk, my breathing was down around 15-20% (I think), and I was only able to be sitting up for about 4-5 hours a day.

*Juan:* So when you started with the clinical trials, how did you feel? What was going through your mind?

_Tiffany:_ Well, of course I was hoping that it would work. I think I had some ridiculous idea like “I am going to have so much energy at first because I will finally be using all of those stored up carbs.” That didn’t happen, and at first I didn’t notice any change.

See, I was on a low dose at first, and it was not until about May/June 2000 (my first infusion was in June 1999) that I started to notice that I was feeling a little better. I had a little more stamina. However, at the same time my scoliosis was getting a lot worse too, and on June 30, 2000 I had the first of two operations to correct it.

But back to how I felt about starting ERT, I guess I never really thought about what would happen if it didn’t work. See, despite the fact that I knew my chances of living past the age of 20 prior to treatment weren’t good, I never really thought I was going to die. I knew I could but I never thought I would, if that makes sense. I think a lot of these feelings can be traced to how hard my parents worked to find a treatment for me.

*Juan:* That makes sense. The dying part I mean. I feel the same way.

_Tiffany:_ When my parents were told that there was nothing out there (treatment wise), they researched until they had the names of several researchers who were working on Pompe, then they started calling them up and asking them what they knew. Then they organized the first scientific conference for researchers working in the field of Pompe.

I have been told by some of those individuals that it was the first time they had actually met each other, and I know that they started collaborating after that.
Anyway, my point is, my parents were working so hard to try and “save” me, that I didn’t really feel like I had to worry. They hoped and believed that ERT would work, so I started the trial without really being scared that anything would go wrong.

*Juan:* How many years have you been on infusion?

_Tiffany:_ 7 years. But in that time I have been on 4 different forms. I started on transgenic, then one of the Duke forms, then there was one called the B/I form, and then Myozyme.

*Juan:* After 7 years and 4 different forms of ERTs, how do you feel? What’s your outlook like?

_Tiffany:_ I feel good. Over the last couple of years I have noticed significant improvements in my health and strength, and I am continuing to improve all the time. For me, these improvements mainly come in the form of an increase in my endurance level, less stomach issues, and the ability to do more for myself on a day-to-day basis.

As for my outlook on life, it is positive. I received a BA in English in May 2005, and I am currently working on my masters. My plan is to complete the graduate program by May 2007, and begin Law School in August 07.

*Juan:* Fantastic!

_Tiffany:_ As for other aspects of my life, I have great friends and a truly awesome family.
For me, Pompe is really just one facet of my life, and I am not going to let it dictate what I do with the rest of my life. I will always have to make some accommodations in my plans because of it (i.e. bi-weekly infusions will have to be worked around), but I have always refused to be defined simply by the fact that I have this disease. Especially now that ERT is a reality, we don’t have to be limited in our dreams for the future.

*Juan:* What’s the best and biggest lesson you’ve learned dealing with Pompe?

_Tiffany:_ That spending a lot of time worrying/being upset about “what might have been” is pointless, and it is unproductive. Yes, I have Pompe, and yes it has changed the course my life would have taken if I didn’t but all I can work with is what is, not what could have been. What is, is that I am alive, I am doing well, and I have a future in front of me that is waiting for me to take it.

*Juan:* Is there anything you’d like to tell other Pompe patients, family or people in general? Parting words, etc..

_Tiffany:_ I guess I would reiterate that Pompe does not need to define who we are. It is important that we accept that we have it, accept the reality of life with Pompe, but that we also need to remember that we are not only Pompe patients and that we have a brighter future in front of us now that ERT is available. I would also like to say that, from my own experiences, reaching out to friends and family, and finding a way to have open discussions about Pompe makes life a lot better.

Earlier I stated that when I was first diagnosed I never really talked about having Pompe. Over the last two years one of the people I have known my entire life has become a great friend because she reached out to me, asked me some questions about Pompe, and made it easier for me to talk about what I am dealing with. Together with her boyfriend, and some of their other friends, they have helped me to be upfront with people about the help that I need, and she has made me feel comfortable in talking about the health/help issues that I would have previously only discussed with my immediate family.

In short, they have made Pompe an even smaller part of my life because it is something that they want to understand, something that they help me with, not something that is like an elephant in the room: seen by all, but talked about by none.
Maybe smaller is the wrong word; maybe I should say that they have made it less alienating.

Ok, I think that is all I want to say. Oh wait.

I also want to say that talking to you, and other Pompe patients has also been extremely helpful to me because I feel that through my discussions I learn new ways to cope with the disease, as well as they leave me feeling like some one else knows exactly how I am feeling about the trials that can arise in day to day life when you have Pompe.

Interview: Maryze Schoneveld van der Linde

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I’m very happy and privileged to have Maryze Schoneveld van der Linde as the first Fighter to be featured here. Although Maryze and I have never met in person I consider her as one of my close and dear friends. There’s a kinship that is born when two people go through a similar experience. A bond that is forged between them.

Maryze is one of the greatest Pompe patients and person for that matter that I’ve met. Her contributions to both the Pompe community, her family and her work are priceless. I can attest that the Pompe community is much much better because of her.

*Juan:* Hi Maryze, could you please tell us a little bit of something about yourself. Brief background on who are.

_Maryze:_ I was diagnosed with Pompe at the age of 8 years, in 1979. My brother, who was then 4 years old, immediately was checked as well and luckily we found out he was not a Pompe patient. Several years before the diagnosis I already had problems like falling down frequently, being sick often, always an elevated body temperature etc. Just after my diagnosis my parents had a wish to have a 3rd child. To be able to do a prenatal diagnosis my parents and I had to undergo another muscle biopsy. With the results of these biopsies the clinical geneticist in Rotterdam was able to perform a prenatal diagnosis. In March 1980, my sister was born, a healthy baby.

I went to high school and after I graduated I went to the University of Leiden to study Cultural Anthropology. One year after I moved to Leiden (about 175 km from where my parents lived) I started to need ventilation.

I met Anton (my partner) in 1987 and one year later we became a couple. From that time on I had my parents, partner and other family supporting me fully. My best friend Carina, who I met in Leiden and who also studied Cultural Anthropology supported me as much as she could. Later my brother started to study Molecular Biology in Leiden and from that time on he cooked once a week for me, so I was able to eat some fresh prepared meals.

I spent about 3 days a week in Leiden and then went back home again because being responsible for household activities was quite a heavy job. Luckily Cultural anthropology is a study that is pretty autonomous. It’s not like Medicine where you have lectures every day of the week.

I was lucky to have friends, family and a partner who took care of me very well.

*Juan:* How has Pompe affected your life?

_Maryze:_ It did affect my life of course. When I was diagnosed I remember that my parents were very sad and upset. They never really showed it to me, but somehow I knew it. I didn’t understand why they were upset, while according to my perception there was nothing wrong with me. I was still the Maryze I always had been and at that time I thought that one was only sick when one had a high fever. However since the diagnosis was known some things did change. I didn’t need to participate in gym class or other physical activities at school anymore. When we went biking together, my father always pushed me by putting his hand on my shoulder. But for the rest I was treated normally, like they always had done. Like my brother I too had to do the dishes after dinner or had to tidy up my room when it was a mess.

I managed to get my swimming certificate (a very important thing in the Netherlands) by doing only the half of the assignments. My swimming teacher agreed to support me to pass this exam. In a country like the Netherlands with a lot of water it is very important to be able to swim. Everyone expects a child to be able to swim.

My friends knew that I had Pompe disease. Sometimes when we had to run, my friend would take me by my hand and drag me with her. That is how I was able to run even when it was only for a short while. After that I was exhausted, but for me it was very important that I had been able to run.

At the age of 12 I realized that I would end up in a wheelchair and I cried one whole night. Then I thought by myself, oh well I can feel worried about my future now, but people in wheelchairs also do have a life. So I decided not to worry about it anymore and try to do what I was able to do. No one told my parents and me that I would get breathing problems, because it simply was not really known at that time.

In 1986 at the age of 16 years my mother and I participated at a conference about ventilation in neuromuscular disorders. When I heard about ventilation I thought that it was a good solution for people with breathing problems, but I never imagined that I would belong to that group too. 4 yrs later at the age of 20 years I also got a ventilator. I was happy with it because thanks to the ventilator I could study again, concentrate again, I didn’t have headaches anymore, no more anxiety, no more nightmares etc. etc.

When I received my ventilation I had to stay 5 days at the ICU. I returned home on a Friday, just before the weekend. The next Monday I was traveling to Leiden again with my ventilator to continue with my study. That week I passed the 3 exams I had learned at the ICU.

*Juan:* How has Pompe changed the way you view life?

_Maryze:_ I always felt that I had to do now what I was able to do. I knew I couldn’t postpone the things I liked to do in my life. I had to do everything at a young age and enjoy it at that moment, because I knew that I would deteriorate further. That is why I traveled a lot early in my life. When I was a child with my parents and with Anton from the age of 18. The nice thing is that, inspite of my ‘disability’ I still travel a lot. I like to experience other cultures and to see other cultures – afterall I am a Cultural Anthropologist. Traveling with ventilators and a wheelchair requires a lot of organization, but it’s absolutely possible. I can’t travel alone of course, but up till now Anton, my parents, brother and sister always supported me.

Pompe also taught me that life is important and wonderful. In spite of all the problems, it taught me what was really important in life; Love, joy and happiness.

*Juan:* Do you ever have moments of regret that you have Pompe?

_Maryze:_ No, not really a regret, somehow it belonged to me. I always knew that I wouldn’t become old, but I decided that if I would die early I wanted to die with a feeling of satisfaction…that I fully lived my life. It took a lot, but it also gave a lot. Sure I did cry. At certain moments in my life I cried often. Especially when I lost another body function. I also learned that it’s important to take time for the mourning processes I went through. When the time passed I also was able to find my own new way to deal with it.

I am also happy that my parents always were very open and honest to me about it. We did talk about Pompe and everything that was affected by it. They took me to patient meetings of the VSN where I saw children of my own age in wheel chairs and I saw they did have fun as well. These experiences also were important to widen my horizon on life.

So I learned that happiness has nothing to do with how good one is able to walk.

When I met Anton I talked to him about my disease. When we met I was still able to bike, walk and I was without a ventilator. He too saw me slowly deteriorate and at the same time we both were able to solve the problems that came with it.

When I wasn’t able to walk anymore we took my wheelchair so we were able to go out anyway. When I wasn’t able to shower myself he showered me. At the time I needed a G-tube to increase my weight, he fully supported me with this. His attitude and support with all the normal daily tasks made it possible for us to be together.

*Juan:* Speaking of Anton, how has he adjusted with your situation?

_Maryze:_ It was difficult for him too, but he just accepted it. He knew he had to do that. He knew what was going on. The deterioration process I was going through, was a slow but steady process. A process that gave us the time to ‘accept’ it.
Somehow we are a team in our fight with Pompe and we were always able to find a new way. We know that together we are a strong couple and I think it’s also because of Pompe. Afterall we managed the many deep problems that were caused by the disease.

*Juan:* Now with Myozyme how are you looking towards the future? Has your outlook changed?

_Maryze:_ Sure it has. I know now that I do have a future…before Myozyme I knew that I wouldn’t become old. Now however I have to take care of my financial situation to be able to take care of myself at an old age. I also know that a good physical condition is very important because it’s in all our benefit. Just the important fact that I regained my energy back we got more freedom. It’s not a problem anymore when I am home alone. Only during the night I think it’s wise to have back up. I am not looking ahead too far in the future, because some things will be taken care of automatically.

*Juan:* What do you mean when you say that?

_Maryze:_ Like questions where do I need to live? I now live at my parents house and Anton’s house. I do have two houses, but they are not my own. Somehow I am convinced it will be taken care of. It will come with the flow of life. It doesn’t make sense to worry about things you can’t take care of at the moment.

My brother and sister too are very aware of Pompe. With a sister who has Pompe disease, they were affected by it too. A couple of years ago my sister wanted to know if she was a carrier or not. I asked Rotterdam to determine my DNA mutations. By knowing the DNA mutations that caused me to have Pompe, it was very easy to examine if my brother and sister were carriers or not. They both were. My brothers wife then also checked if she had a mutation that can cause Pompe disease.

*Juan:* Do they both have children of their own?

_Maryze:_ My brother does have a son. Luckily my nephew is unaffected. My sister doesn’t have children yet, but when she wants them she knows that it’s wise to test her partner. In my family Pompe was never a taboo. We all knew the impact of Pompe disease too well.

*Juan:* What would you like to tell Pompe patients and their families?

_Maryze:_ I would like to tell them that Pompe disease is not nice to have, but that it’s not the end of life. Life itself contains so many positive things. We only need to open ourselves up to it. I know it’s possible to be happy and lead a wonderful life when one is in a wheelchair and on a ventilator. Sure it’s not the easiest life to live, but it is maybe because of these challenges that teaches us how special life is. I do know ‘healthy’ people who are not leading a very happy life.

Everyone must try to make the very best out of life in spite of all the problems we meet. With Myozyme we, Pompe patients must realize how lucky we are. So many people with other diseases still don’t have a therapy or drugs.

*Juan:* Thank you for taking the time to share your story with us.

Fighters

I’m starting a new feature here on Fight Pompe called “Fighters”. This category of entries is dedicated to Fighters from all over. I’ll be talking to fellow Pompe patients, doctors, nurses, family members and friends. I’ll be talking to them about their experiences with Pompe and life. Hopefully it will give new insight as to how it is to live not just with Pompe but with any disease that alters life.

I’ll be focusing not so much on clinical and the medical aspects of the disease since there are a lot of those already published. I shall instead focus on the emotional, psycological, and human aspect of dealing with a life changing disease.

I hope you take the time to read through the interviews as I know it will be a great read with a lot of interesting stories and lessons.