Yesterday, the 2010 WebMD health heroes were announced.
http://www.webmd.com/healthheroes/default.htm
Pat Furlong, the founding president and CEO of Parent Project Muscular Dystrophy was among the honorees. Memories of my first discussion with Pat and Jon’s diagnosis came flooding back. Jon’s diagnosis was confirmed on December 31, 1997, after two months of testing and waiting.
I remember sitting in my office at Kodak, when I received a phone call from Dr. Tawil at the University of Rochester. He wanted to see my husband and I in his office at noon. I remember my hands shaking and my voice shaking as I spoke with my husband in his office. We had a very somber drive to the U of R, both hoping and praying that the doctor would say that Jon had something other than Duchenne. My husband and I had been web searching symptoms and testing results since Oct. The pediatrician wanted to make sure that Jon’s speech and motor delays where not due to a medical problem. As we walked from the car to Dr. Tawils office, it was a typical cold day for December in Rochester, what struck me though, was that it was sunny when normally in Rochester it’s gray and cloudy. I hoped that the information the doctor was about to give us would reflect the brightness of the day. The discussion with the doctor was surreal and somber. He tried to explain that there was some hope, but the normal prognosis of Duchenne did shorten the patient’s life span. We left the office, picked the kids up from day care and gave them both big hugs. Normally, on New Year’s Eve we have a nice dinner; stay up; watch the ball drop in time square; toast champagne. We went to bed early that night, silently crying ourselves to sleep and wondering what the future would bring for our son learning to live with Duchenne.
Slowly we began searching for organizations that might have information that would help us. Of course we knew of the MDA, but their focus seemed so dispersed. We wanted an organization whose focus was just Duchenne. During one of my husbands late night web searches he found an organization and sent an email. A few weeks later as we slowly started to engage in life again; the phone rang. It was a Sunday afternoon. I answered the phone and the woman on the phone introduced herself as Pat Furlong. She asked me how we were doing. I’m very stoic when I don’t know someone, however, I found myself starting to choke up as I spoke with this kind woman. I said we were fine considering; taking it one day at time. Pat in her wisdom said that taking life with Duchenne one day at time would become our coping mechanism. Families dealing with Duchenne don’t look too far ahead into the future. There is hope in the future but hope for new therapies may also come with baited breath.
Pat spent 45 minutes on the phone with me and, gave me her contact information. I hung up not feeling so alone in this very unfamiliar world. Pat was the first person I spoke with whose family was affected by Duchenne. During our conversation she suggested that my husband and I go to Pittsburgh to attend the conference on care and research for Duchenne in June. I thanked Pat for her time, and I would speak with my husband regarding attending the conference. I spoke with my husband about the conversation I had with Pat. We decided to attend the conference in June of 1998. It was held at the University of Pittsburgh and not a hotel. We had rooms in the dorms. PPMD started in 1994. It was clear to me that this young organization’s focus was to help families navigate Duchenne and provide insights on how to buy five more minutes. I felt like it was crash course in care and research for Duchenne. My head was swimming with pictures of muscle tissue and terms I had trouble pronouncing. We also came home with some concrete things that we could do for our son to slow down the progression.
I didn’t realize then, that now12 years later I would consider; Pat Furlong, Donna Saccamano, and people around the world like Elizabeth Vroom, Dr. Biggar and Helen Posselt my closest allies in fighting Duchenne. Their combined knowledge and insights have helped my family navigate Duchenne to aid Jon in reaching his potential despite the odds.
I am thrilled that Pat was awarded this honor. I am grateful to know Pat and deeply admire her tireless dedication to all the families, and boys affected by Duchenne.
Thursday, November 11, 2010
Sunday, October 10, 2010
Amazement!
Jon’s 17th birthday is today. Personally I can’t believe Jon is that old or that I have gotten this old. Jon is a senior year in high school and is taking a full load of classes. My husband and I made the mistake of thinking that his Imaginary Worlds English class or his Game Design classes are fluff classes. He has more homework in these classes than he does in his Physics and Calculus classes. In addition to his high school class load, his extra activities are enough to tire out a healthy teenager, let alone one dealing with Duchenne. Jon is the process of completing his Eagle Scout project; he has joined the Robotics team, is a member of Model UN, a member of Anime Club and participates in the schools Television Station.
As I attended the Varsity High and Junior Varsity football games while doing the Coach to Cure, Muscular Dystrophy fundraisers, I had both football players and cheerleaders and their parents approach me and say, that Jon is very inspiring to them. I found it interesting that these kids, who are much taller and much more active, say that Jon inspires them.
Despite having Duchenne he remains positive and refuses to let having Duchenne get In the way of trying something of interest. Jon refuses the use of a wheel chair most of the time. We had his teacher team meeting last week. One of the large concerns was how Jon was going to attend the homecoming prep rally. His resource teacher was very concerned. It was a long walk to the stadium and she wanted Jon to be able to attend all of the pep-rally. He would have to leave early so he could meet his transportation home in time. Jon as usual refused the use of the wheelchair to get out to the stadium. My husband and I needed to remind Jon that we had same discussion last year and that he came home after last year’s rally saying he was glad he used the wheel chair. The end result, Jon used the wheel chair to get from the school to the stadium for the pep rally. He enjoyed himself and said in the end he was glad he used the wheel chair because he was able to stay for the entire pep-rally.
I am always amazed at all the things he participates in and attempts. Now is he is looking at attending college next year and studying paleontology. Paleontology is the study of prehistoric life, including organisms’ evolution and interactions with each other and their environments. Jon has always enjoyed learning about prehistoric life. To help Jon pursue his dream, we will need to figure out a support system, which is built in at home.
To quote Walt Disney: “All our dreams can come true, if we have the courage to pursue them.” In order to make Jon’s dream happen we will persevere with courage.
As I attended the Varsity High and Junior Varsity football games while doing the Coach to Cure, Muscular Dystrophy fundraisers, I had both football players and cheerleaders and their parents approach me and say, that Jon is very inspiring to them. I found it interesting that these kids, who are much taller and much more active, say that Jon inspires them.
Despite having Duchenne he remains positive and refuses to let having Duchenne get In the way of trying something of interest. Jon refuses the use of a wheel chair most of the time. We had his teacher team meeting last week. One of the large concerns was how Jon was going to attend the homecoming prep rally. His resource teacher was very concerned. It was a long walk to the stadium and she wanted Jon to be able to attend all of the pep-rally. He would have to leave early so he could meet his transportation home in time. Jon as usual refused the use of the wheelchair to get out to the stadium. My husband and I needed to remind Jon that we had same discussion last year and that he came home after last year’s rally saying he was glad he used the wheel chair. The end result, Jon used the wheel chair to get from the school to the stadium for the pep rally. He enjoyed himself and said in the end he was glad he used the wheel chair because he was able to stay for the entire pep-rally.
I am always amazed at all the things he participates in and attempts. Now is he is looking at attending college next year and studying paleontology. Paleontology is the study of prehistoric life, including organisms’ evolution and interactions with each other and their environments. Jon has always enjoyed learning about prehistoric life. To help Jon pursue his dream, we will need to figure out a support system, which is built in at home.
To quote Walt Disney: “All our dreams can come true, if we have the courage to pursue them.” In order to make Jon’s dream happen we will persevere with courage.
Tuesday, August 24, 2010
Standing on my head with my pants torn!
This month was a series of ups and downs. At the end of July PTC released an update on the Ataluren Data at International Congress of Neuromuscular Diseases. The information was similar to that released before. The low dose study showed benefit versus the high dose. There was really no timeline determined for next steps or additional information, blah, blah, blah. The most interesting thing that came out of the press release was that PTC has explored the feasibility of investigator-initiated individual INDs with patients who were treated with Ataluren in a previous clinical trial at a U.S. site. Jon participated in the trial at the University of Utah. IND stands for Investigational New Drug. This means that the drug has not received regulatory approval and it’s up it’s up to the drug company that makes the drug to allow for this type of access.
Based on the information provided in the release we needed to conduct the trail site where we participated in the trial. I contacted the University of Utah. I was told that the University needed to discuss the next steps internally and with PTC. The Doctor who ran the study would call us back within the next week. We got the phone call the following week. Yes, we could participate in the IND; there were still things to work out. It would be another couple of months.
More hurry up and wait. This is typical when dealing with Duchenne. My family has learned to treat all the good news with that a little bit of salt. We don’t want to get our hopes up too high. It just makes it more difficult to come to terms with things when our expectations are not really met. When I spoke to Jon about the latest news, he said “That’s OK mom I think I can hold on for another couple of months as long as I can get back on the drug.” “I will be able to get back on the drug, right?” I said, “I’m, pretty sure you can Jon, but it’s up to PTC to allow it. They manufacture the drug and they need to allow it to be made available.” Jon looked at me and said “I hope that company has someone with a little humanity running it and not just looking to make big bucks.” “I know that drug companies need to make money in order to survive, because it costs so much to develop and bring a drug to market.” “But, in the mean time kids like me are losing function, which will never return!” Mom, do you think they get that?” I said, “Yes, Jon, I think some of the leaders of PTC do get it.” “I’m not sure if everyone gets it.” Jon looked at me and said “Yeah I know, you kinda have to live with Duchenne to really get it”. “It’s not like Cancer, where you can have radiation and chemo and then normal function returns.” “When I lose any function, I know that it will never come back, that part just sucks!” “I hope that PTC and Utah can come to an agreement soon, so I can start taking the drug again.” I said “I hope so too Jon”. More waiting and hoping for both of us.
The following week I was contacted by a new family that recently received the news that their son had Duchenne. Their son was 2 and ½ a little young to start steroids. Pat Furlong and I held a call with this family and provided some guidelines of care in the short term until their son is a little older. With the help of Pat and Parent Project Muscular Dystrophy I felt strongly that this family didn’t feel so alone in dealing with Duchenne. It really upsets me that not all Duchenne clinics are the same. Families not only have to deal the Duchenne diagnosis, but also have to become experts. Throughout the years I have come across some arrogant Doctor’s. Usually when they don’t listen, my single question that usually stops them and makes them think is “What would you do if this was your son?” They need to stop and think for a minute as to what I am trying to convey regarding care for Jon. Sometimes, we agree to disagree, but sometimes they start to think that my point of view may have some merits. I have been very lucky in finding a pediatrician that will work with me. My pediatrician early on said. “OK, you know far more about the care and treatment of Duchenne than I do”. Since my insurance is like an HMO. All the specialists must be approved by my pediatrician. She and I have developed a good working relationship. She agreed to review all the latest literature on the best care practices for Duchenne that I receive. After her review she provides her medical opinion. With the help of the pediatrician Jon, Mike and I decide what’s best for Jon. I sincerely hope that this new family can find at least one Doctor to help them navigate the medical intricacies’ of Duchenne, and guide them to seek the best possible care for their son.
This past weekend, Jon needed his senior pictures taken. He wanted one of the cheaper packages. He really made me laugh when he said “Mom, it’s just a picture, so let’s not go overboard.” He could have two outfits, one casual and another a little more formal. The pictures came out great! He had a good time posing and was thrilled that the casual look with his signature fedora and black rocker t-shirt and black jeans made him look older and cool. He felt like just a regular high school senior getting his picture taken. Duchenne is always in the background no matter how “normal” you endeavor to make things.
To deal with the ups and downs of life in general especially with life with Duchenne my family tries to find humor in most situations. I feel like I’m standing on my head with my pants torn most of the time. To quote Irvin S. Cobb: “Humor is merely tragedy standing on its head with its pants torn.”
Based on the information provided in the release we needed to conduct the trail site where we participated in the trial. I contacted the University of Utah. I was told that the University needed to discuss the next steps internally and with PTC. The Doctor who ran the study would call us back within the next week. We got the phone call the following week. Yes, we could participate in the IND; there were still things to work out. It would be another couple of months.
More hurry up and wait. This is typical when dealing with Duchenne. My family has learned to treat all the good news with that a little bit of salt. We don’t want to get our hopes up too high. It just makes it more difficult to come to terms with things when our expectations are not really met. When I spoke to Jon about the latest news, he said “That’s OK mom I think I can hold on for another couple of months as long as I can get back on the drug.” “I will be able to get back on the drug, right?” I said, “I’m, pretty sure you can Jon, but it’s up to PTC to allow it. They manufacture the drug and they need to allow it to be made available.” Jon looked at me and said “I hope that company has someone with a little humanity running it and not just looking to make big bucks.” “I know that drug companies need to make money in order to survive, because it costs so much to develop and bring a drug to market.” “But, in the mean time kids like me are losing function, which will never return!” Mom, do you think they get that?” I said, “Yes, Jon, I think some of the leaders of PTC do get it.” “I’m not sure if everyone gets it.” Jon looked at me and said “Yeah I know, you kinda have to live with Duchenne to really get it”. “It’s not like Cancer, where you can have radiation and chemo and then normal function returns.” “When I lose any function, I know that it will never come back, that part just sucks!” “I hope that PTC and Utah can come to an agreement soon, so I can start taking the drug again.” I said “I hope so too Jon”. More waiting and hoping for both of us.
The following week I was contacted by a new family that recently received the news that their son had Duchenne. Their son was 2 and ½ a little young to start steroids. Pat Furlong and I held a call with this family and provided some guidelines of care in the short term until their son is a little older. With the help of Pat and Parent Project Muscular Dystrophy I felt strongly that this family didn’t feel so alone in dealing with Duchenne. It really upsets me that not all Duchenne clinics are the same. Families not only have to deal the Duchenne diagnosis, but also have to become experts. Throughout the years I have come across some arrogant Doctor’s. Usually when they don’t listen, my single question that usually stops them and makes them think is “What would you do if this was your son?” They need to stop and think for a minute as to what I am trying to convey regarding care for Jon. Sometimes, we agree to disagree, but sometimes they start to think that my point of view may have some merits. I have been very lucky in finding a pediatrician that will work with me. My pediatrician early on said. “OK, you know far more about the care and treatment of Duchenne than I do”. Since my insurance is like an HMO. All the specialists must be approved by my pediatrician. She and I have developed a good working relationship. She agreed to review all the latest literature on the best care practices for Duchenne that I receive. After her review she provides her medical opinion. With the help of the pediatrician Jon, Mike and I decide what’s best for Jon. I sincerely hope that this new family can find at least one Doctor to help them navigate the medical intricacies’ of Duchenne, and guide them to seek the best possible care for their son.
This past weekend, Jon needed his senior pictures taken. He wanted one of the cheaper packages. He really made me laugh when he said “Mom, it’s just a picture, so let’s not go overboard.” He could have two outfits, one casual and another a little more formal. The pictures came out great! He had a good time posing and was thrilled that the casual look with his signature fedora and black rocker t-shirt and black jeans made him look older and cool. He felt like just a regular high school senior getting his picture taken. Duchenne is always in the background no matter how “normal” you endeavor to make things.
To deal with the ups and downs of life in general especially with life with Duchenne my family tries to find humor in most situations. I feel like I’m standing on my head with my pants torn most of the time. To quote Irvin S. Cobb: “Humor is merely tragedy standing on its head with its pants torn.”
Wednesday, July 21, 2010
Good Friends
Over 4th of July weekend Jon got a couple of phone calls from his friends. That weekend was pretty busy. But, phone calls for Jon to attend parties are rare; we almost never give up any opportunity for him to attend a party with his friends. We always try and make it work.
Jon usually hates to use his wheelchair for anything. But his friend that was hosting the 4th of July party lives near the park where the fireworks are shot off, and everyone at the party planned on walking over to the park. I heard Jon on the phone with his friend. “You want me to bring my wheelchair? How come? Oh we are going to walk to the park? OK, I’ll bring it. Will someone be able to push me to the park?” The conversation ended. Jon hung up and said “Mom, my friend is having a party for 4th of July, can I go, it’s Saturday”. I said “Jon, remember we got tickets to Watkins Glen to see Shea Holbrook race. You can go when we get back, what time does the party start?” Jon said 5 or 6. I said “Well ; the race will end sometime between 5:30 and 6pm.” “You can get to the party around 7:30 or 8:00, will that be too late?” Jon called his friend back. It was agreed that Jon would still attend the party .
Jon and I had a fun day at the races, but Jon was excited to be with his friends and celebrate the 4th of July. My husband dropped him off at the party and we waited for Jon’s call. It was midnight when he called to be picked up. Jon was tired came home and went straight to sleep.
The next morning I asked, “So, how was the party?”” Did you get over to see the fireworks?” Jon looked at me with a huge smile on his face and said “Yup, the party was good; the fireworks were awesome!” I said, “So, how did you get over to the park, did one of your friends push you?” Jon answered;, “Yup, one of the bigger guys pushed me.” “He hit a couple of divots in the grass and some bumps in the concrete.” ” Mom don’t worry it was all good. I had a blast.”
It was really hot that weekend, Jon got a phone call on Monday, to go to a pool party. Jon was looking forward to going, it was 95 degrees and he wanted to go swimming. I said “Jon do you know what kind of pool they have?” “”Is it above ground or in ground?” Mom, it’s above ground.” I said, “How you are you going to get in it”. Jon no longer can use stairs or ladders, so I was worried. Jon said “ Mom, I can figure it out with my friends, they will help me.” My husband dropped him off for the party. Jon called around 5 and asked if he could stay longer, he stayed another hour.
When he got home I asked him how he managed getting in and out the pool. He said that two of the bigger guys helped him in and out of the pool and he really enjoyed hanging out with his friends.
Jon is always telling me that I worry too much. As a Mom you want your kids to enjoy themselves and have a little independence. But has a Mom dealing with Duchenne you worry 10 times more and watch your child loose what little independence they have. While most kids at 16 have their drivers license and can borrow the car to hang out with their friends, Duchenne kids need the support of their parents more as they get older.
Jon once told me, “Mom you worry too much, I’m doing fine, but I agree it does suck having to rely on your parent’s for everything.” “I don’t really miss my friends normal, because my normal is not the same as everyone else’s”. My husband and I try and let Jon have as much independence as he can handle. It is a tough balancing act for all of us.
Jon usually hates to use his wheelchair for anything. But his friend that was hosting the 4th of July party lives near the park where the fireworks are shot off, and everyone at the party planned on walking over to the park. I heard Jon on the phone with his friend. “You want me to bring my wheelchair? How come? Oh we are going to walk to the park? OK, I’ll bring it. Will someone be able to push me to the park?” The conversation ended. Jon hung up and said “Mom, my friend is having a party for 4th of July, can I go, it’s Saturday”. I said “Jon, remember we got tickets to Watkins Glen to see Shea Holbrook race. You can go when we get back, what time does the party start?” Jon said 5 or 6. I said “Well ; the race will end sometime between 5:30 and 6pm.” “You can get to the party around 7:30 or 8:00, will that be too late?” Jon called his friend back. It was agreed that Jon would still attend the party .
Jon and I had a fun day at the races, but Jon was excited to be with his friends and celebrate the 4th of July. My husband dropped him off at the party and we waited for Jon’s call. It was midnight when he called to be picked up. Jon was tired came home and went straight to sleep.
The next morning I asked, “So, how was the party?”” Did you get over to see the fireworks?” Jon looked at me with a huge smile on his face and said “Yup, the party was good; the fireworks were awesome!” I said, “So, how did you get over to the park, did one of your friends push you?” Jon answered;, “Yup, one of the bigger guys pushed me.” “He hit a couple of divots in the grass and some bumps in the concrete.” ” Mom don’t worry it was all good. I had a blast.”
It was really hot that weekend, Jon got a phone call on Monday, to go to a pool party. Jon was looking forward to going, it was 95 degrees and he wanted to go swimming. I said “Jon do you know what kind of pool they have?” “”Is it above ground or in ground?” Mom, it’s above ground.” I said, “How you are you going to get in it”. Jon no longer can use stairs or ladders, so I was worried. Jon said “ Mom, I can figure it out with my friends, they will help me.” My husband dropped him off for the party. Jon called around 5 and asked if he could stay longer, he stayed another hour.
When he got home I asked him how he managed getting in and out the pool. He said that two of the bigger guys helped him in and out of the pool and he really enjoyed hanging out with his friends.
Jon is always telling me that I worry too much. As a Mom you want your kids to enjoy themselves and have a little independence. But has a Mom dealing with Duchenne you worry 10 times more and watch your child loose what little independence they have. While most kids at 16 have their drivers license and can borrow the car to hang out with their friends, Duchenne kids need the support of their parents more as they get older.
Jon once told me, “Mom you worry too much, I’m doing fine, but I agree it does suck having to rely on your parent’s for everything.” “I don’t really miss my friends normal, because my normal is not the same as everyone else’s”. My husband and I try and let Jon have as much independence as he can handle. It is a tough balancing act for all of us.
Saturday, July 10, 2010
Whew, it’s been a busy couple of weeks of learning and inspiration!
This time of year is usually pretty busy for my family. Most year’s we are busy preparing to march in the 4th of July parade with Jon’s boy scout troop. Jon’s Boy Scout troop didn’t march in the parade and. Jon was focused on finishing his Eagle Scout project. Also this year the annual Parent Project Muscular Dystrophy conference and Shea Holbrooks racing and fundraising efforts all seemed to collide into the same couple of weeks.
Kat and I went to the Parent Project Muscular Dystrophy Annual conference in Denver. Kat was helping with the kids’ camp session at the PPMD conference and participated in the sibling panel. Kat had the younger boys during the kids’ session. Most of the boys were live wires. 18 boys on steroids to treat Duchenne; adding candy into the mix makes for an interesting day camp session. Kat made me laugh when she said “OK Mom, after 5 hours with these kids, I have decided not to have children” “I can’t imagine how any Mom with more than two kids deals with them?” That’s a decision my daughter will have to make, when she is ready! I hope it will be later rather than sooner. She still has a lot of life to live before having children. The sibling panel was very well received, Kat’s key point to parent’s with of Duchenne kids was to not take out your frustration regarding work, dealing with Duchenne etc. on your non-affected kids. They get the dynamic, but they are really just kids as well. I think any Duchenne sibling matures faster than other kids their age. I can honestly admit that through Kat’s high school years my household didn’t function really without her help. I was sitting in the audience; and was proud that she felt that she was able to express her view point so freely.
The conference always has a large amount of information to process and sift through. I am so glad that the presentations will be posted on Parent Project Muscular Dystrophy’s web-site www.parentprojectmd.org. I will be able to review the material and process it at my own pace. I don’t have a medical background, so I need time for the material to sync in. I can attribute Jon’s overall health to the information that I receive at the conference. After the research study results from Harvard regarding Protandim, we have decided to start Jon on that supplement as well. I was not an early adopter on this supplement because he was already taking other supplements, and there wasn’t any independent research regarding Protandim and Duchenne until the Harvard study.
I met with the PTC Therapeutics during a breakout session regarding Ataluren. Amanda Becker said it right. One father mentioned his son’s cardiac function dropped 20% after discontinuing Ataluren. While there is no data to confirm a direct relationship, stopping Ataluren was the only change to his son’s medications. As each person expressed their own experience with Ataluren and interest in participating in an access program, Amanda said that in her view any change, any loss of function and surely a change in the cardiac function constitutes an emergency. PTC’s medical officer had never thought of Duchenne in that way. Duchenne is an emergency. Given this new insight into Duchenne, PTC said that they would work on access and regulatory approval concurrently. Genzyme will continue to work with PTC for access and a path forward for European trial participants. This was positive news on all fronts. I’m in hurry up and wait mode to find out when we will be able to get access. This information will be provided after the meeting in Naples at the end of July.
I was inspired to hear Nick Dobes story during the awards dinner. Nick Dobes was awarded Weisman Fellowship this year. Nick was inspired to work in the Duchenne field by his best friend and roomate from college who has Duchenne. While he spoke about his friend and all the things they did in college. I was struck by the caring and very close friendship that he formed with his friend. As I look forward to Jon heading off to college and hope Jon is able to have such a friendship that will last after college and into their careers. Nick’s story was heartwarming and inspiring.
Another inspiring person is Shea Holbrook. Shea is rookie race car driver that is inspired to raise awareness for Duchenne Muscular Dystrophy and Parent Project Muscular Dystrophy because of her two cousins, Matthew and Jordan Klapp. (Matthew 1989 – 2008). Shea hopes to be the next Danica Patrick (Indy Cars). Jon and I went down to Watkins Glen World Challenge race on July 3 to watch Shea race. It was an exciting race to watch. Watkins Glen is known as a fast track to drive. We both enjoyed watching the race. Shea placed 8th in her #67 Dick Ide Honda and PPMD Honda Si car despite having faulty brakes. You can check out her newsletter on the Watkins Glen race at www.shearacing.com The Watkins Glen race will be aired on Versus TV on July 17, 2010 from 11pm – midnight. Shea’s next race will through the streets of Toronto, Canada on July 17, 2010. We had a good time filming a TV spot that we hope will be aired on Versus.
I enjoyed watching Jon’s face as we watched the cars go around the track. He really enjoyed himself at the race. For me, it brought back memories of watching racing in Loudon NH with my big brother. He took me to see stock car racing, funny cars and dragsters. It was a thrilling treat for me as kid as my brother is 10 years older than I. I thought it was really awesome that he would let me hang out with him. When I was younger I wanted to be the next Shirley Muldowney. She was first lady of drag racing. However, it was not meant to be. As an adult I have resigned myself to driving between 75-80 mph on the thruway on my way to Buffalo listening to loud Rock and Roll. I just can’t drive 65. I guess that ‘s why I follow Shea Holbrook’s racing accomplishments.
As these past weeks continue into summer, I am so happy that I was able to attend the PPMD conference in Denver, and witness my daughter become a young woman. I am grateful to have met such inspiring people like Nick Dobes and Shea Holbrook.
Kat and I went to the Parent Project Muscular Dystrophy Annual conference in Denver. Kat was helping with the kids’ camp session at the PPMD conference and participated in the sibling panel. Kat had the younger boys during the kids’ session. Most of the boys were live wires. 18 boys on steroids to treat Duchenne; adding candy into the mix makes for an interesting day camp session. Kat made me laugh when she said “OK Mom, after 5 hours with these kids, I have decided not to have children” “I can’t imagine how any Mom with more than two kids deals with them?” That’s a decision my daughter will have to make, when she is ready! I hope it will be later rather than sooner. She still has a lot of life to live before having children. The sibling panel was very well received, Kat’s key point to parent’s with of Duchenne kids was to not take out your frustration regarding work, dealing with Duchenne etc. on your non-affected kids. They get the dynamic, but they are really just kids as well. I think any Duchenne sibling matures faster than other kids their age. I can honestly admit that through Kat’s high school years my household didn’t function really without her help. I was sitting in the audience; and was proud that she felt that she was able to express her view point so freely.
The conference always has a large amount of information to process and sift through. I am so glad that the presentations will be posted on Parent Project Muscular Dystrophy’s web-site www.parentprojectmd.org. I will be able to review the material and process it at my own pace. I don’t have a medical background, so I need time for the material to sync in. I can attribute Jon’s overall health to the information that I receive at the conference. After the research study results from Harvard regarding Protandim, we have decided to start Jon on that supplement as well. I was not an early adopter on this supplement because he was already taking other supplements, and there wasn’t any independent research regarding Protandim and Duchenne until the Harvard study.
I met with the PTC Therapeutics during a breakout session regarding Ataluren. Amanda Becker said it right. One father mentioned his son’s cardiac function dropped 20% after discontinuing Ataluren. While there is no data to confirm a direct relationship, stopping Ataluren was the only change to his son’s medications. As each person expressed their own experience with Ataluren and interest in participating in an access program, Amanda said that in her view any change, any loss of function and surely a change in the cardiac function constitutes an emergency. PTC’s medical officer had never thought of Duchenne in that way. Duchenne is an emergency. Given this new insight into Duchenne, PTC said that they would work on access and regulatory approval concurrently. Genzyme will continue to work with PTC for access and a path forward for European trial participants. This was positive news on all fronts. I’m in hurry up and wait mode to find out when we will be able to get access. This information will be provided after the meeting in Naples at the end of July.
I was inspired to hear Nick Dobes story during the awards dinner. Nick Dobes was awarded Weisman Fellowship this year. Nick was inspired to work in the Duchenne field by his best friend and roomate from college who has Duchenne. While he spoke about his friend and all the things they did in college. I was struck by the caring and very close friendship that he formed with his friend. As I look forward to Jon heading off to college and hope Jon is able to have such a friendship that will last after college and into their careers. Nick’s story was heartwarming and inspiring.
Another inspiring person is Shea Holbrook. Shea is rookie race car driver that is inspired to raise awareness for Duchenne Muscular Dystrophy and Parent Project Muscular Dystrophy because of her two cousins, Matthew and Jordan Klapp. (Matthew 1989 – 2008). Shea hopes to be the next Danica Patrick (Indy Cars). Jon and I went down to Watkins Glen World Challenge race on July 3 to watch Shea race. It was an exciting race to watch. Watkins Glen is known as a fast track to drive. We both enjoyed watching the race. Shea placed 8th in her #67 Dick Ide Honda and PPMD Honda Si car despite having faulty brakes. You can check out her newsletter on the Watkins Glen race at www.shearacing.com The Watkins Glen race will be aired on Versus TV on July 17, 2010 from 11pm – midnight. Shea’s next race will through the streets of Toronto, Canada on July 17, 2010. We had a good time filming a TV spot that we hope will be aired on Versus.
I enjoyed watching Jon’s face as we watched the cars go around the track. He really enjoyed himself at the race. For me, it brought back memories of watching racing in Loudon NH with my big brother. He took me to see stock car racing, funny cars and dragsters. It was a thrilling treat for me as kid as my brother is 10 years older than I. I thought it was really awesome that he would let me hang out with him. When I was younger I wanted to be the next Shirley Muldowney. She was first lady of drag racing. However, it was not meant to be. As an adult I have resigned myself to driving between 75-80 mph on the thruway on my way to Buffalo listening to loud Rock and Roll. I just can’t drive 65. I guess that ‘s why I follow Shea Holbrook’s racing accomplishments.
As these past weeks continue into summer, I am so happy that I was able to attend the PPMD conference in Denver, and witness my daughter become a young woman. I am grateful to have met such inspiring people like Nick Dobes and Shea Holbrook.
Wednesday, June 9, 2010
SAIL WINDS (PART 3)
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...
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, 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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