In the weeks leading up to the conference call with PTC on May 27th all I kept hearing in my head was the chorus from a song from the musical Jesus Christ Superstar – What's the buzz?
Tell me what's a-happening?
The Duchenne community was anxiously waiting for this call. PPMD was willing to facilitate the call. PTC was willing to provide an open line of communication regarding where they were with their analysis and what their next steps were. The fact that PTC was willing to have this discussion to me was rather extraordinary. They could have said nothing at all, but they didn’t. I am extremely thankful that they didn’t. The other drug company that also has a stake in this trial has been very silent. Also, these trials were funded by other organizations. Where are those other organizations? Have they decided that Ataluren in Duchenne does not show enough benefit to push it forward? I can’t speculate on those questions, I really don’t know.
Yes, I was disappointed at what I was seeing and hearing on the call, but not because PTC didn’t have the full data analysis completed or that they couldn’t provide a solid timeline to obtain access to the drug. I understood that this analysis was really complex and that they needed more time. The hurry up and wait syndrome was something that every Duchenne family deals with. We don’t like it, but it is an unfortunate reality of waiting for therapies that may stop the progression of Duchenne. I also understood that without obtaining a regulatory path forward, Ataluren availability would not be sustainable for the 179 patients that were trial subjects.
As I listened to this call and looked at the slides they were presenting, I was surprised that the dose my son was being giving had the same effect as giving him placebo. There was almost no benefit in the dose he was given during the trial. The next surprising thing to me was the slide that the dose of Ataluren that did show benefit also showed functional decline. Functional decline did occur, but at a slower rate. The rate of decline was similar to that of patients taking steroids. The low dose did show statistical benefit. But Ataluren was not the total cure that everyone wished, for the boys that have a stop codon mutation. However, the Drug did appear to be a viable treatment.
At dinner that night my son asked me about the information I heard in this conference call. We discussed the information. His response surprised me as well. “Mom, I don’t think there will ever be a “cure” for duchenne. The Dystrophin gene is too big, you will never be able to stop spontaneous mutations that occur in nature.” “What I would like is a viable treatment!” “I would like to be able to maintain my existing function.” “Can the viable treatments be combined to stop the functional decline?” Is there any way I can get back on the drug at the dose that shows benefit? I said “I don’t know, let me see what I can find out”.
As I said in earlier posts, Jon has been more than willing to try any therapy if he thinks it’s going to help. My family over the years has been on the cutting edge of treatment. We started taking Deflazacort when the Duchenne doctors couldn't agree on the benefits of steroids or the dosage. Deflazacort was not proven at the time, and the Doctors in Rochester didn’t agree with my approach at all. After 11 years of monitoring Jon, they have started to come around. We started with the cardiac care early, the first time I heard Dr. Hoey from Australia present his cardiac findings in mice. We started other supplements as well as soon as we heard that they could provide benefit without harm. We took the same approach in enrolling in the Ataluren trial.
Over the weekend I saw Pat Furlong’s post regarding her thoughts on the call and gathered more information regarding the IND access process. IND stands for investigational new drug. The FDA has a program that allows physicians to apply to continue to give the drug to patients. PTC wanted the access program sponsors to be the clinical trial site doctors because PTC is building the case for the FDA and does not want to risk safety data to Doctors who have never done a clinical trial or have no knowledge about DMD and/or Ataluren. For us that meant going back to the University of Utah where Jon was enrolled. I brought the information back to my family. Jon and my husband looked at me and said “OK if going to Utah is what we need to do, let’s go for it!” “What’s more trips to Utah?” “We got that travel plan down to science.”
Go for it I did. I contacted the doctor at the University of Utah and asked if she would be willing to be the sponsor when access was approved by the FDA. She agreed! So now we are anxiously waiting for the data package to be put together and approved by the FDA. There were articles published in the Proceedings of the National Academy of Sciences that suggested that Ataluren didn’t work. PTC to continue to support and build the case for Ataluren to the FDA will need to re-perform the animal tests. In my mind this is a good thing. Because if you can re-create the test and come up with the same answer than the data is solid.
My family is hurry up and waiting, just like all the other Ataluren families waiting for access approval and regulatory path forward...
Wednesday, June 9, 2010
Wednesday, May 19, 2010
PROM
Getting ready for the normal high school milestones in our house is always a creative endeavor. At the beginning of April Jon came home from school and said that he wanted to attend Prom. He asked if he could attend the prom without renting a tux. Our goal is to have Jon experience all the normal things kids his age get to experience. I said, yes we should get a tux. The month of April flew by. On May 1, Jon and I went into to the local tux shop to get measured. Prom was just two weeks away. Finding cloths is always a little challenging, due to taking steroids for 11 years. Jon’s growth has been stunted; he’s the shortest guy in his junior class. Most of the girls are taller than he as well.
The jacket and vest had to be altered. The pants had to be shortened. The shirt sleeves were really long. The tailor and the owner of the shop were both taking measurements and discussing what to do. Since it was to be a rental, the tailor was trying to figure out how to alter everything without cutting it. As Jon and I stood there listening to their conversation, Jon asked how much more it would cost if we purchased the jacket and the pants of the tux. The shop owner looked at me and said are you sure? Jon said, hey I’m not going to grow anymore, and I will be going to my senior ball next year. The owner quoted me a rental price and then gave me the purchase price. I said we will purchase the jacket and the pants. I will rent the shirt and vest. The tailor looked at the vest and figured out a way to make the alteration so they could rent the vest again. The shirt sleeves were solved by making them French cuffs. The tux shop provided the shirt studs and the cuff links. OK, the tux issue was solved, now for the shoes.
Jon’s shoes are always difficult. Jon has custom made inserts in his shoes. He usually always wears sneakers, because the arch supports can be removed and his inserts can be slipped in easily. Dress shoes present a problem. The arch supports can’t be removed as they are glued in, so trying shoes on with his inserts is difficult. We tried on dress shoes, no luck. As I stood in the shoe store, I started looking at sneakers. I saw a pair of black suede sneakers that were all black. We tried them on; they fit, and were comfortable. We purchased the shoes.
I got home both my husband and daughter said those aren’t dress shoes. I said I know, but they are the closest thing we could find and with his tux they will be fine. They both looked at me like I was crazy. Well, sure enough, they looked fine with his tux. You really had to look at them to figure out they were sneakers. Jon was comfortable and able to walk.
Jon looked great in his tux and he enjoyed himself at the prom and glad that we got a tux. The girls noticed him and took their picture with him.
The jacket and vest had to be altered. The pants had to be shortened. The shirt sleeves were really long. The tailor and the owner of the shop were both taking measurements and discussing what to do. Since it was to be a rental, the tailor was trying to figure out how to alter everything without cutting it. As Jon and I stood there listening to their conversation, Jon asked how much more it would cost if we purchased the jacket and the pants of the tux. The shop owner looked at me and said are you sure? Jon said, hey I’m not going to grow anymore, and I will be going to my senior ball next year. The owner quoted me a rental price and then gave me the purchase price. I said we will purchase the jacket and the pants. I will rent the shirt and vest. The tailor looked at the vest and figured out a way to make the alteration so they could rent the vest again. The shirt sleeves were solved by making them French cuffs. The tux shop provided the shirt studs and the cuff links. OK, the tux issue was solved, now for the shoes.
Jon’s shoes are always difficult. Jon has custom made inserts in his shoes. He usually always wears sneakers, because the arch supports can be removed and his inserts can be slipped in easily. Dress shoes present a problem. The arch supports can’t be removed as they are glued in, so trying shoes on with his inserts is difficult. We tried on dress shoes, no luck. As I stood in the shoe store, I started looking at sneakers. I saw a pair of black suede sneakers that were all black. We tried them on; they fit, and were comfortable. We purchased the shoes.
I got home both my husband and daughter said those aren’t dress shoes. I said I know, but they are the closest thing we could find and with his tux they will be fine. They both looked at me like I was crazy. Well, sure enough, they looked fine with his tux. You really had to look at them to figure out they were sneakers. Jon was comfortable and able to walk.
Jon looked great in his tux and he enjoyed himself at the prom and glad that we got a tux. The girls noticed him and took their picture with him.
Friday, May 7, 2010
Partial Wind in My Sails
The wind in my sails may be coming back.
Two things have occurred that provide me with some hope that Ataluren may still be viable.
One was the conference call PPMD held with John Crowley. John Crowley is a dad with two children diagnosed with Pompe’s disease. His story was the inspiration for the movie “Extraordinary Measures” starring Harrison Ford, Brendan Frasier and Kerry Russell. John Crowley is also the CEO of a bio-tech firm. John made some very interesting points about drug development that hit home with me. Drug Trial planning is very difficult. If the drug does not meet their chosen end points, it does not always means that the drug is not viable, harmful or bad. It could be as simple as the dosage may not be correct.
The other thing that provided both my husband and I some hope was the Summary of Ataluren Phase 2b Clinical Trial Results presented at the American Academy of Neurology Meeting on April 16, 2010. These results indicated that the low dose of Ataluren was the dose that showed actual benefit in some of the trial participants.
Both of these things have caused me to sit back and think about some of the complexities of Duchenne. Hitting the expected targets the first time out in genetic disease trials are very difficult. This caused me to think that endpoints like the 6 minute walk test and other tests that are reliant on a multitude of factors may not be the best end points for Duchenne. For example: toe walking; vs flat feet; pelvis strength; thigh strength; spine strength; steroids or not. I’m not sure that you can use such an end point and still be able to calculate all the different variants, to come up with an average of how the kids are performing during this test and whether or not a benefit has been achieved. Then on top of these factors, let’s add that some kids may not like the taste of the drug. A parent’s goal while participating in these trials is to make sure that their child takes the drug. Therefore a parent may be mixing the drug with something that might cause the drug to become ineffective without realizing it. All of these factors make analysis extremely complicated.
It’s not surprising to me the analysis has taken a little time. I believe that PTC as a company has not given up on the drug and that they are still regrouping to figure out the next steps forward. I hope PTC can determine the next steps soon. We are hoping that the trail will be resumed using the low dose and possibly different targets for analysis.
Therefore the wind is slowly coming back. The waiting game is always difficult.
Two things have occurred that provide me with some hope that Ataluren may still be viable.
One was the conference call PPMD held with John Crowley. John Crowley is a dad with two children diagnosed with Pompe’s disease. His story was the inspiration for the movie “Extraordinary Measures” starring Harrison Ford, Brendan Frasier and Kerry Russell. John Crowley is also the CEO of a bio-tech firm. John made some very interesting points about drug development that hit home with me. Drug Trial planning is very difficult. If the drug does not meet their chosen end points, it does not always means that the drug is not viable, harmful or bad. It could be as simple as the dosage may not be correct.
The other thing that provided both my husband and I some hope was the Summary of Ataluren Phase 2b Clinical Trial Results presented at the American Academy of Neurology Meeting on April 16, 2010. These results indicated that the low dose of Ataluren was the dose that showed actual benefit in some of the trial participants.
Both of these things have caused me to sit back and think about some of the complexities of Duchenne. Hitting the expected targets the first time out in genetic disease trials are very difficult. This caused me to think that endpoints like the 6 minute walk test and other tests that are reliant on a multitude of factors may not be the best end points for Duchenne. For example: toe walking; vs flat feet; pelvis strength; thigh strength; spine strength; steroids or not. I’m not sure that you can use such an end point and still be able to calculate all the different variants, to come up with an average of how the kids are performing during this test and whether or not a benefit has been achieved. Then on top of these factors, let’s add that some kids may not like the taste of the drug. A parent’s goal while participating in these trials is to make sure that their child takes the drug. Therefore a parent may be mixing the drug with something that might cause the drug to become ineffective without realizing it. All of these factors make analysis extremely complicated.
It’s not surprising to me the analysis has taken a little time. I believe that PTC as a company has not given up on the drug and that they are still regrouping to figure out the next steps forward. I hope PTC can determine the next steps soon. We are hoping that the trail will be resumed using the low dose and possibly different targets for analysis.
Therefore the wind is slowly coming back. The waiting game is always difficult.
Sunday, March 28, 2010
My Idea of Normal
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.
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.
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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