My advocacy efforts started very early on. It all started at the PPMD Annual Conference, when Dr. Lee Sweeney said “To improve lives of patients with Duchenne and Becker Muscular Dystrophy the real change would have to come would have to come from the government through the National Institute of Health. Awareness about Duchenne and Becker needs to be increased within the NIH community”. I did not know any one at the NIH so I decided to contact my Congressional representative. In 2000 it was Congresswoman Slaughter. She was interested in health issues and always supported the NIH. I naively phoned her Washington office and requested an appointment in the Rochester office. Her appointment scheduler was gracious enough to set the appointment. I met with the Congresswoman and one of her Legislative Aides in the Rochester office. She listened to me talk about my son and talk about what it was like to have a son with DMD. I left her information about PPMD and what we were trying to accomplish. She was very kind. But, I did not know what the next step was. There was not any legislation for the MD Care Act, so I just kept emailing her office periodically to let her know how Jonathan was doing.
The first legislative conference in 2001 was to gain support of the MD Care Act. I traveled to Washington. I had no idea what to expect I had never lobbied congress. It seemed really grandiose. I knew, I needed to be Jonathan’s voice. I was really nervous and afraid of tripping over my tongue when it came to the talking points for the MD Care Act. All the people conducting and speaking at the training session were really young and smart. I was a 40 something Mom from upstate NY, talking about scientific issues and terms that I had trouble pronouncing. I was grateful to find out that I would not be attending the meetings on my own. The meeting schedule had been set for me. I was disappointed that I was not scheduled to meet with my representatives office. We had meetings with other representatives. We also meet with the Health Legislative Aides from both Senators offices. All those meetings went smoothly. I was hopeful that our elected officials from New York would help. After the meetings on the first day, there was a reception. Invitations went out to the offices inviting the members and the staff. It was really crowded and there were lots of people. As I passed through the crowd someone said, “Hey, Christine this person is looking for someone from New York”. I said, “I’m from New York”, whose office do you represent?” She said was from my representative’s. office. I was delighted; I proceeded to have my meeting with my representive’s Health Legislative Aid n the middle of the reception. My representative signed on to the MD Care act and signed on to the appropriations bill the next year in 2002.
In late 2002 the congressional districts were re-zoned. I had a new representative. I attended the 2003 Advocacy Conference. I did not have a meeting scheduled with either Senator’s office or with my Congressman’s office. I had meetings with lots of offices outside of my district. They went smoothly and for the most part were successful. I stopped by the Senate and my representative offices to leave information. I was able to meet with a Legislative Assistant in my representative’s office. She was interested, but made reference to my representative being a Cardinal on the house appropriations committee. I had no idea what she meant. She took the information and gave me a business card with the name and contact information of Health Legislative Aide. I came home to upstate NY. I followed up with everyone I met with during the 2003 conference. I especially followed up with both Senator’s offices and with my representative’s office. In 2004, I was unable to attend the Advocacy Conference due to a project going on at work. I kept up contact through voice messages and e-mail.
When I attended the 2005 Advocacy Conference, I had meetings scheduled with both NY Senator’s, as well as my Representative’s office. When the delegation met with the Senate offices both of their Health Legislative aides remembered my name and were delighted that we finally got to meet in person. Both Senator’s signed onto the appropriations letter.
We met with my Congressman’s office. The Congressman was a senior member of the influential House Appropriations Committee, which determines how much money goes to DMD programs. It was really important that we gained his support. The meeting was very successful. He signed on to the appropriations letter. His Health LA wanted my family to meet with him within in our district. My son Jonathan, my daughter Kathyn and I met with him in the Syracuse office. We were able to discuss Jonathan’s and Kathryn’s perspective about living with DMD. I was able to thank the Congressman for his support in person. I was also able to discuss PPMD's specific federal funding request and its impact on the Muscular Dystrophy Center of Excellence at the University of Rochester as well as the CDC surveillance project that is collecting critical information on muscular dystrophy in western New York.
My relationships continued with these offices and Health Legislative Aides through the 2008. In 2008 NY had a new senator and my district had a new representative. I was able to build a relationship with my new representative and gain his support. Jon was also able to meet with him at the Model United Conference in Syracuse. We have a new congress for 2011. This year I have the same Senator’s and a new Representative. I can’t attend the conference this year. But I will be diligent in educating congress about Duchenne and Becker Muscular Dystrophy via voice mail and email.
Advocacy really does matter! Click to hear Pat Furlong and PPMD's Board Chairman talk about advocacy.
Please click here to read about PPMD's advocacy history.
Tuesday, January 11, 2011
Saturday, January 8, 2011
Faith and Hope
"Faith is the very first thing you should pack in a hope chest. " ---Sarah Ban Breathnach
As 2011 begins, I am hopeful that there will be new research breakthroughs for Duchenne. My family is grateful to the generosity of the Getler and Ginder families in support of PPMD’s cardiac initiative. We begin every year with a bitter sweet celebration. New Year’s Eve of 1997 began our journey. It’s been 14 years since Duchenne entered our lives. Jon has always told me that Duchenne does not define him, it’s just something that he deals with. He has never let Duchenne stop him from trying something he was interested in.
2010 celebrated normal high school milestones, prom, participating in Model UN conferences, SAT’s, ACT’s. 2011 finds us looking forward to new milestones, picking colleges Senior Ball, Senior Bash and Graduation.
Jon is always hopeful for new research breakthroughs. Even though traveling from Western NY to Utah causes some stress and extra work at school, Jon is thankful that he is able to be back on Ataluren. As we were driving the other day, Jon said “Mom, I feel pretty fortunate that I’m able to participate in the Ataluren trial, cause I’m still mobile. Will the FDA allow trials for the non-ambulatory kids, I think it’s unfair that kids who can’t walk, can’t participate in trials for new therapies.” “Can’t they figure out some kind of measurements so non-ambulatory kids could participate in these trials?” I responded with: “I know that they are working on it, but it’s not easy. Drug companies need to show patient benefit for a drug. They need to show a measureable benefit that will provide a medical qualitative benefit.” Jon’s response was “Mom, that’s pretty complicated to figure out, I hope they will figure it out soon, I will always remain hopeful and have faith that in my lifetime we will see that happen as well.”
Jon and I end 2010 and begin 2011 with faith and hope that research breakthroughs will help END Duchenne.
As 2011 begins, I am hopeful that there will be new research breakthroughs for Duchenne. My family is grateful to the generosity of the Getler and Ginder families in support of PPMD’s cardiac initiative. We begin every year with a bitter sweet celebration. New Year’s Eve of 1997 began our journey. It’s been 14 years since Duchenne entered our lives. Jon has always told me that Duchenne does not define him, it’s just something that he deals with. He has never let Duchenne stop him from trying something he was interested in.
2010 celebrated normal high school milestones, prom, participating in Model UN conferences, SAT’s, ACT’s. 2011 finds us looking forward to new milestones, picking colleges Senior Ball, Senior Bash and Graduation.
Jon is always hopeful for new research breakthroughs. Even though traveling from Western NY to Utah causes some stress and extra work at school, Jon is thankful that he is able to be back on Ataluren. As we were driving the other day, Jon said “Mom, I feel pretty fortunate that I’m able to participate in the Ataluren trial, cause I’m still mobile. Will the FDA allow trials for the non-ambulatory kids, I think it’s unfair that kids who can’t walk, can’t participate in trials for new therapies.” “Can’t they figure out some kind of measurements so non-ambulatory kids could participate in these trials?” I responded with: “I know that they are working on it, but it’s not easy. Drug companies need to show patient benefit for a drug. They need to show a measureable benefit that will provide a medical qualitative benefit.” Jon’s response was “Mom, that’s pretty complicated to figure out, I hope they will figure it out soon, I will always remain hopeful and have faith that in my lifetime we will see that happen as well.”
Jon and I end 2010 and begin 2011 with faith and hope that research breakthroughs will help END Duchenne.
Thursday, November 11, 2010
Yesterday
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.
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.
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.
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