Choose To Live

In life we always have a choice. For Avery Canahuati and her family the choice was simple, they chose to live.

Avery was diagnosed with an extreme form of SMA of Spinal Muscular Atrophy. It’s a rare genetic disease that robs the person of his abilities. From walking, moving all the way to breathing. In Avery’s case she was not expected to live past 18 months.

It’s hard for any parent to accept that their child will die so young. A parent should never have to bury their child. Yet given this dire situation, Mike and Laura Canahuati, Avery’s parents decided that they would choose to live rather than focus on Avery’s death. “Mike always told me that we’ve got all the time in the world to cry. We can cry, you know when she’s no longer here” Laura was quoted as saying during an interview by CNN.

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Cesar’s Story

Sometimes a story is so heartbreaking that you can’t help but be affected. Cesar’s story is one of those.

When Cesar was grade 5 he had an accident and hit his head. At first the family thought nothing of it. Coming from an impoverished family, they really didn’t have enough for basic needs so they decided to forego the precautionary medical checkup.

A month after the fall Cesar had a fever for three days. 6 months after the family noticed that Cesar was having a hard time walking. He was dragging his feet. Even at this point the family was still unable to bring him to the hospital due to lack of resources.

It was only until Cesar couldn’t walk any more and with the help of a family were they able to bring Cesar to the hospital. The diagnosis was that Cesar had a dislocated spinal cord at c1 and c2. Due to the length of time between the injury and when a doctor saw him, an operation was not viable anymore. Add to that he contracted urinary tract infection.

Cesar eventually lost physical abilities and is now dependent on a ventilator. He can only move his head and shoulder.

Cesar’s story is tragic because it could have been prevented. The lack of a good healthcare system in our country forces people from impoverished backgrounds not to seek medical attention, which in return makes it more complicated in the long run.

Now almost 23, Cesar has lived 5 years of his life confined to an orthopedic hospital. It wasn’t only until June 2008 that he was able to go home. Aided by a kindhearted family that got him his first ventilator, Cesar has been at home since that time.

The bed is Cesar’s prison. He spends most of his day in bed, only being able to sit up if assisted. His mother or sister also needs to feed him and care for him 24/7.

A few days ago Cesar’s ventilator broke. I only found out a couple of days after but during that time his mother and sister took turns manning the ambubag to help Cesar breathe. For those who don’t know what an ambubag is, it’s a manual balloon or pump that helps push air into the lungs. Imagine doing that for 48 hours.

I felt a deep sense of sadness when I heard about what happened. Being on a BiPAP/Vent myself I know what it feels like. When you can’t breathe on your own and rely on a machine to breathe, every day you’re playing a game of chance. If it breaks you’re in for a tough time. That’s why I’m so anal about my machines. I have backups for the backups.

Cesar is not as fortunate as I am. He only has one. So when it broke, it was a long 48 hours for him.

Luckily I was able to get in touch with a man from Pampanga who has a respiratory care business. He said that he would be happy to drive to where Cesar lives, hook him up on a back up vent and take Cesar’s vent and repair it. He gave a good price on it. So I said let’s do it.

I put out a shout out on Twitter and Facebook. Some friends expressed interest in helping Cesar. I was able to get some pledges for money to cover the expenses to fix the vent.

Once the vent is fixed, I’m hoping that I can rally more people to donate towards getting Cesar a backup ventilator. The guy doing the repair has the exact same vent that Cesar uses. He’s willing to let it go for a fair price. I’m hoping that with help from people we can raise the money needed to do this.

If you want to help, please send me a message by leaving a comment below.

Remembering Basti

I woke up today with some really sad news. I got a text message saying that Basti passed away. Basti is the son of Joey and Sheila Valiente. He also had Pompe disease.

I met Joey and Sheila years back. They got a hold of my name and contact details because I was listed as the contact person of the International Pompe Association (IPA) here in the Philippines. They had just found out that their son (then less than a year old) had Pompe disease. Like most parents faced with this life changing news, they were frantic in finding a way to help their son.

I found myself at our dinner table talking to them. They flew all the way to Manila from Cagayan De Oro in hopes of finding help for Basti.

Luckily that was also the time that clinical trials for infantile form of Pompe disease was being done. I know several people involved with this program so we talked about trying to get Basti in that program as well as see specialists that might be able to help him.

Long story short, Joey, Sheila and Basti found their way to the United States and eventually was put on a program that allowed Basti to receive Myozyme, the first Enzyme Replacement Therapy for Pompe disease. This allowed Basti to live several years more.

An infant diagnosed with Pompe disease usually has a mortality rate of up to around 1 to 2 years of age. With ERT this goes up dramatically depending on how soon the infant receives it.

Basti received ERT and as a result his life was extended a few more years. In fact he celebrated his 8th birthday last February.

I was told that Basti died peacefully in his sleep. He wasn’t sick prior to that. He just went to sleep and didn’t wake up. Maybe it was just God calling him home.

Basti lived a happy life despite his severe disability. He had parents who loved him and who did all that they could to ensure that.
We don’t know why these things happen. Why Basti was given a few more years only to be taken away suddenly. I’m sure God has his reasons. We only need to trust in that.

I pray for Basti’s soul. I’m sure he’s up in heaven enjoying himself there. Most of all I pray for Basti’s family, especially Joey and Sheila. Their is a loss that will be hard to get over. After years of fighting, it’s hard to suddenly wake up and not have Basti there. I pray that they are able to get through this tough time.

I didn’t get a chance to meet Basti personally because I only had the chance to meet with Joey and Sheila prior to their going to the United States. I have been always updated about Basti and his condition so I do feel like I know him well. He was also the first Pompe patient that I was able to help in my small way and he will forever be in my heart.

Rest in peace Basti.

This Is What You Get With Perseverance and Some Myozyme

I was reading through my GSDnet emails when I came across an email from David Hamlin. In his email David is sharing the progress of his son Eric with Myozyme and a whole lot of exercise. He posted some videos on the “United Pompe Foundation”:http://www.unitedpompe.com web site. I checked it out and what I saw had me nearly in tears.

Awesome. That’s the word I’d use to describe David, Eric and the rest of the Hamlin family. It was through their collective effort and of course the people at Genzyme who brought us Myozyme that Eric is doing as well as he is right now.

Eric hasn’t been able to walk since 2001. He started with Enzyme Replacment Therapy April 2004. 11 months after progress was more evident. Now, Eric is taking his first steps with a walker. That rocks!!!

Pompe has slowly ravaged the bodies of people unlucky enough to get afflicted with it. Myozyme works but it does take time. This is evident with Eric’s case. It took awhile before significant progress was made. It took years to destroy the muscles, it will take years as well to repair it.

I guess the key to all of this is managing expectations. I understand that Myozyme is not a miracle drug. I understand that each patient will differ in the progress he/she makes. I also understand that it will take patience, hardwork and determination. I should learn a thing or two from Eric.

Go watch the videos “here”:http://www.unitedpompe.com/VIDEOS.cfm.

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

!/images/21.jpg (Maryze)!

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.