There some days when I think that my life is just not normal. When I start thinking this way I really need to remind myself that normal is a relative term. How a person deals with life is really defined by personal circumstances of their past and present life experiences intertwined.
My son was diagnosed on December 31, 1997 with Duchenne Muscular Dystrophy. Since that day I have come across people that have asked me how I deal with my son, work a full time job, advocate for Duchenne Muscular Dystrophy to our Congressional Representatives in Washington DC and serve on the Board of Directors for Parent Project Muscular Dystrophy.
My answer is usually something like; “I just do it and don’t really think about it” or “I need to make a difference for my son and all families affected with Duchenne Muscular Dystrophy”.
I have always wondered why people ask me this question, why people appear to be awed by the things I do. I have never believed that I was all that smart or extraordinary. I grew up in a very affluent town in NH, but my family was not affluent at all. My friends growing up were the brightest kids in the class. I got OK grades; nothing stellar and science was not one of my strong points. Having a son with Duchenne really scared me. There weren’t any guidelines for a standard of care, like there are today. I needed to become versed in medical and scientific terms and concepts that I have trouble pronouncing, let alone understand. My husband I have always been on the cutting edge regarding our son’s care. We have never accepted the status quo of care provided to us locally. We have endeavored to seek out the experts in the Duchenne field to obtain the best care possible for our son.
I recently reconnected with some of my high school friends. One of them said: “I can’t believe all that you do”, I wouldn’t know where to start.” Another one said: “I always knew that you could do anything you set your mind on.” This discussion caused me to analyze why my normal is so different from most.
There were major things that happened in my life that stand out. My mother had breast cancer, when I was 12. She had one breast removed; she overcame breast cancer, to later become the admired and respected historian of the Manchester NH Historic Association until her death in 1999. My father developed terminal lung cancer while I was in high school. The summer prior to my senior year in high school I helped my mother care for my dying father, so she could still go to work. My brother’s mother- in-law had health issues, yet despite it all, she always tried to look her best, enjoyed life and never gave up fighting her health issues. In college I was able to obtain an internship in my NH Congressman’s Washington, DC office. This gave me an inside view of how congress is run. Washington DC is really run by the smart and energetic 25 year olds that comprise the staff of both the Congressional and Senate offices. My lobbying efforts for Duchenne have resulted in meeting and building relationships with these smart and energetic people, which I wouldn’t have met otherwise.
All these experiences have helped me deal with the ups and downs of having a son with Duchenne and allowed me to face the adversity head on. Do I wish Duchenne didn’t come into my life, of course I do. All the families dealing with Duchenne wishes they didn’t. On the other hand, my son wouldn’t be the same person he is today, and my husband and I wouldn’t have gotten to spend as much time with our son as we have. We have made it a point to have our son do things and see things that a lot of kids his age wouldn’t experience. His experiences include seeing an active volcano and sticking his walking stick into the slow moving lava in Hawaii; seeing a heard of wild buffalo crossing the road in Wyoming. Our next vacation will be to Florida, we hope to take an airboat ride through the Everglades and witness the Mexican Bat Colony and the University in Gainesville. All and all I wouldn’t trade my normal for someone else’s normal.
Sunday, March 28, 2010
Wednesday, March 10, 2010
Wind in My Sails
When I finished reading Pat Furlong's blog entitled Re-Visiting Katrina, I had to sit back and think for a little bit. How did I feel about last week’s news and events regarding Ataluren? Yes, I had to agree, I felt like I had gotten hit by a hurricane.
This past week was very stressful for my family.
First: we were meeting with the school district to discuss my son’s transportation issues. My husband has been dealing with the brunt of those issues. The bus driver and the bus aid were requesting that my son crawl up the bus steps. My husband and I both lost it when my son came home one day from school saying that no one would help him onto the bus and they put a towel down across the steps and asked him to crawl into the bus. My son is 16; totally humiliated and crying by time I got home from work.
We did get that issue resolved after threatening to invoke an impartial hearing and my husband nearly getting arrested with a harassment charge. A county sheriff arrived at our home to speak with my husband, however no charges were pressed. The school district finally resolved the issue by contracting with another company to send a car/bus to transport our son to and from school, ensuring his safety and his dignity. The school district will not transport my son on a wheel chair bus because he doesn’t use a power wheelchair and the wheels on the manual chair can’t be locked in place. A scooter or a manual wheel chair with power assist wheels also can’t be locked in place on the bus.
Second: we received a call from the University of Utah telling us that the Ataluren drug trial was being suspended. My son was participating in that trial. He was one of the original 38 boys participating in the 2A and 2A extension trial. As trial participants my family hoped that Ataluren would buy five more minutes, more time being mobile, another birthday, and ultimately increase our son’s quality of life. Our son’s treatment has revolved around maintaining existing function for as long as possible and attempting to slow the progression. So the news that Ataluren did not meet its primary and secondary end points was more difficult to accept to my family then most in the Duchenne community. Gynzyme is a publically traded company and the SEC requirements called for PTC/Gynzyme to release the data and make a decision. The drug cannot be approved given the current data. Our reaction to this news was “What now?”
My husband and I have very different responses to things. He is very passionate in his response and tends to let you know what he is thinking right between the eyes. His first response is to seek retribution. I on the other hand, am more pragmatic about my approach by attempting to rationalize my response. As a result I have been accused of being the ice princess or the ice queen depending on the day. It's not that I don't care about my son’s transportation problem or the drug trial being stopped suddenly. I just view things as problems and obstacles to be overcome versus seeking retribution and/or invoking a law suit with the people who ultimately may be able to resolve the problem.
As a result of my service on the Board of Director’s for Parent Project Muscular Dystrophy, I have had the opportunity to get to know the people that make up the company known to the Duchenne community as PTC. This company has spent millions of dollars on Ataluren, and is not so big that they can just walk away and give up on this potential investment. PTC is still analyzing all the data obtained during the trial to figure out the next steps forward. I am very thankful PTC is willing to analyze all the data and not just say that Duchenne is too hard to demonstrate benefit and look at a different rare disease.
Yes, right now, the wind has been knocked from our sails; we are currently using a motor to navigate!
I prefer to wait for the following to occur:
• All the data to be analyzed
• Hope that a new protocol will be developed with better primary and secondary end points.
• Remain optimistic that this drug trial will restart and the drug ultimately be approved by the FDA.
I think seeking retribution should be used only when all other options have been explored and there is no other possible way forward. Let’s hope that optimism wins out and that retribution is the path of last resort.
This past week was very stressful for my family.
First: we were meeting with the school district to discuss my son’s transportation issues. My husband has been dealing with the brunt of those issues. The bus driver and the bus aid were requesting that my son crawl up the bus steps. My husband and I both lost it when my son came home one day from school saying that no one would help him onto the bus and they put a towel down across the steps and asked him to crawl into the bus. My son is 16; totally humiliated and crying by time I got home from work.
We did get that issue resolved after threatening to invoke an impartial hearing and my husband nearly getting arrested with a harassment charge. A county sheriff arrived at our home to speak with my husband, however no charges were pressed. The school district finally resolved the issue by contracting with another company to send a car/bus to transport our son to and from school, ensuring his safety and his dignity. The school district will not transport my son on a wheel chair bus because he doesn’t use a power wheelchair and the wheels on the manual chair can’t be locked in place. A scooter or a manual wheel chair with power assist wheels also can’t be locked in place on the bus.
Second: we received a call from the University of Utah telling us that the Ataluren drug trial was being suspended. My son was participating in that trial. He was one of the original 38 boys participating in the 2A and 2A extension trial. As trial participants my family hoped that Ataluren would buy five more minutes, more time being mobile, another birthday, and ultimately increase our son’s quality of life. Our son’s treatment has revolved around maintaining existing function for as long as possible and attempting to slow the progression. So the news that Ataluren did not meet its primary and secondary end points was more difficult to accept to my family then most in the Duchenne community. Gynzyme is a publically traded company and the SEC requirements called for PTC/Gynzyme to release the data and make a decision. The drug cannot be approved given the current data. Our reaction to this news was “What now?”
My husband and I have very different responses to things. He is very passionate in his response and tends to let you know what he is thinking right between the eyes. His first response is to seek retribution. I on the other hand, am more pragmatic about my approach by attempting to rationalize my response. As a result I have been accused of being the ice princess or the ice queen depending on the day. It's not that I don't care about my son’s transportation problem or the drug trial being stopped suddenly. I just view things as problems and obstacles to be overcome versus seeking retribution and/or invoking a law suit with the people who ultimately may be able to resolve the problem.
As a result of my service on the Board of Director’s for Parent Project Muscular Dystrophy, I have had the opportunity to get to know the people that make up the company known to the Duchenne community as PTC. This company has spent millions of dollars on Ataluren, and is not so big that they can just walk away and give up on this potential investment. PTC is still analyzing all the data obtained during the trial to figure out the next steps forward. I am very thankful PTC is willing to analyze all the data and not just say that Duchenne is too hard to demonstrate benefit and look at a different rare disease.
Yes, right now, the wind has been knocked from our sails; we are currently using a motor to navigate!
I prefer to wait for the following to occur:
• All the data to be analyzed
• Hope that a new protocol will be developed with better primary and secondary end points.
• Remain optimistic that this drug trial will restart and the drug ultimately be approved by the FDA.
I think seeking retribution should be used only when all other options have been explored and there is no other possible way forward. Let’s hope that optimism wins out and that retribution is the path of last resort.
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