2011 Graduation!

This month has been extremely busy!  Jon has fully particated in the senior events this past month leading up to graduation. Senior Ball, Senior Bash and the Senior Convocation Ceremony.  Jon has always had a fighting spirit.  He made a decision early on not to let Duchenne get in his way.  We had an issue with the Convocation Ceremony causing Jon not be able to stand from the seat he was sitting in.  The chairs in the auditorium have moveable seat bottoms, that are not stationary.  As a result of not being able to keep the seat flat he couldn't stand by himself to go up and recieve his award when his name was called.  The presenter couldn't see what was going on so she finished her presentation. I leaned over to my husband and said, "Jon can't get off the chair."  The principal was sitting close to Jon and figured out what was going on, Jon was helped to a standing position and was called up on stage at the end of ceremony to accept his award.   

As a result, of this bump in the road, my husband and I met with the high school administrators to discuss graduation preparation.  As we were discussing the preparations. I could hear Pat Moeschen's voice in my head telling a story of a discussion he and his father had regarding using a wheelchair.  "If I'm sitting down I'm disabled, If I'm standing up I'm not."  Jon has a very similiar attitude regarding using a wheelchair.   Jon usually won't use a wheelchair.  As I asked the school administrators questions regarding how the ceremony was going to work, I could hear Pat's voice again in my head describing what his father said  to him regarding the use of the chair "Shut up and just get in the damn chair; we will be able to do a lot more stuff and have a lot more fun on this trip, without you whining and me wanting to destroy you, because you have to rest every 15 minutes."  As a parent, I could relate to Pat's Dad at that moment. 

As my husband and I further discussed the details of the ceremony with the school administrators, we decided to come up with a compromise.  Jon would use his wheelchair for the processional, and sit through most of the ceremony.  When it was time for the presenting of diplomas he would be pushed over to the stage area where he could stand and walk accross the stage to receive his diploma and walk back to his chair. We discussed who would push Jon into the ceremony, the administrators said "We won't have a problem finding a teacher, they would all probably fight for the chance; Jon is really a likable guy and he will be missed next year."    When my husband and I came home from the meeting we spoke to Jon regarding the chair.  Jon's reaction was typical, "Mom I can walk in with eveyone else."  I said "Jon there are 350 kids in your graduating class.  You will hold everyone else up during the processional. Do you want to fall in front of 5000 people and have someone lift you up in front of all those people?".  His reply to me was classic Jon,  "OK, I will use the chair, but I don't want my Mom or Dad pushing me, I'm friggen 17."   I said "No problem, we won't be pushing you, one of the teachers will push you over to the stage area and lift you when it's time for you stand."
  
We scheduled a private rehearsal so Jon could practice walking accross the stage wearing is Cap and Gown.  It went fine without any problems.  We wanted to make sure the gown didn't cause any issues with his gait. My husband went with Jon to the rehersal with all the other kids, so we could make sure that the plan would work and we could show the teacher how to lift Jon.  Both rehersals went fine.   Jon and the school administrators were comfortable with how things will work out.

I asked Jon if he wanted to decorate his chair in the school colors. Jon said yeah, but I don't want anything too childish and Mom don't go overboard OK." I said how 'bout the FIRST Robotic team 1511 Rolling Thunder colors. His chair already had red underglow lights on it from other FIRST Robotics team events. He agreed. The arms and the back had red camo. On the back panel we put red and black graduation caps. The wheel spokes had red and white streamers threaded through them.

Jon the graduate and his chair where now both ready for graduation.  Graduation went off without a hitch.  When Jon's name was announced he walked accross the stage to a huge cheer from his classmates and the people in attendance!  His classmates showed Jon how much he inspired them.  

Jon has a busy summer planned.  Between the medical visits to Toronto, Utah and Gainsville; attending the PPMD conference and attending Double H camp, Jon plans on starting to write his Sci Fi book series and get ready to study Biology at Nazareth College. 

Jon like Theodore Roosvelt has always held to the attitude of "Believe you can and you're halfway there."   

Knowledge!

My knowledge and my ignorance were highlighted over the past couple of months.

We changed Orthotists. Jonathan for many years wore custom made night splints and shoe inserts. The new othotist explained to us how poorly made Jonathan’s old inserts and night splints were and how they really were not helping him. The night splints were heavy and caused his legs and feet to sweat. The shoe inserts were not helping and caused his feet to come out of his shoes. All this time we thought we were making things better. We have new inserts for his shoes, they are much more comfortable and actually provide the support they are supposed. Since Jon is 17 has stopped growing. His range of motion is still good in his ankles, so for now Jon can stop wearing his night splints, Both my husband and I were trained on how to check Jon’s range of motion and determine if Jon should have new night splints. According to the orthotist, since Jon’s bones have stopped growing, he is less likely to need night splints now. It was much more important that he wore the night splints when he was younger. He made new shoe inserts which seem to be much better for his balance, posture and overall mobility. With these inserts the orthotist recommended basketball sneakers to provide more support. The othotist was surprised at how the old inserts were made, and thought they did more damage than good. Both my husband and I were crest fallen to think that the old inserts may not have helped as much as we were lead to believe.

During his Eagle Scout ceremony and while taking pictures of his friends before the Senior Ball, it struck me just how short he really is. His scout troop has some very tall guys and two of his good friends are really tall and thin guys. Jon is 17 and has been on steriods since he was 5, and is 4 ft 6 in tall. My husband, daughter and I are not very tall, so it’s not so apparent to us. While seeing the fast differences in height, it made me question whether or not we made the right descision in putting Jonathan on a daily dose of steriods at such a young age. When my husband and I decided to use steriods, a standard of care and hadn’t been developed, and the trials on which dosage was best were years away. With the help of our pediatrician and Dr. Biggar we put Jon on a daily dose of steriods. In the long run, we felt it would be worth it. Today, Jon’s overall health is very good. There are no issues with his respiratory function and his cardiac function is good with the help of the cardiac maintenance drugs.

However, Jon is 17 and Duchenne is what it is, Jon can no longer climb stairs. When he falls he can no longer get up by himself; he needs someone to lift him; he needs help dressing in the monring and undressing at night. He can get in and out of a car with some assistence but can no longer get in and out of the SUV without being lifted. But, he still walks independently, and doesn’t use a wheelchair full time yet. It is inevetable that Jon will need a wheelchair.

Looking back, would I change any of it? Like everyone, we wish Duchenne never came into our life. I would have liked to meet the new orthotist when Jon was younger. I think we would have made the same decision regarding the steriods. Jon as always said that he would much rather be short and still able to walk for as long as he possibly can.

Even after all these years navigating Duchenne, we continually learn and must continually ask the questions and continually seek out the gold standard of care. So to quote Confucious: Real knowledge is to know the extent of one's ignorance.

Bat Man!

Jon finally became and Eagle Scout in February. Achieving this honor took 12 years and 33 Merit Badges, the Rank of Brotherhood in the Order of The Arrow. His Eagle Scout Project involved his love of nature and biology to build Bat Houses. Jon’s service coordination for DDSO in NY State is thru Heritage Christain Home. Heritage Christian Home supports independent living centers, a working farm and a therapy riding stable. Jon built a demo bat house, and 6 other bat houses for one of the independent living centers and the therapy riding stable. He also built nesting rabit hutches and a new roof for the Therapy Rabbit Hutch at Springdale Farms. In addition he made a presentation on bats at the annual festival for Springdale Farms. After a couple of clerical errors regarding rank advancement, his Board of review was scheduled. He did well during his board of review and the reviewers seemed impressed with all that Jon did. Jon called me right after his board of review. I could imagine the smile on his face as he spoke to me. “Hey Mom, after 12 years of scouting and 33 merit badges later, I’m finally an Eagle Scout.” The Eagle Scout rank is the highest rank you can achieve in Scounting. The statistic is 1 in 3000 scouts achieve this rank. Even fewer scouts achieve this rank with Duchenne Muscular Dystrophy.


You may ask why Jon decided to build bat houses for his eagle project. His love of Bats started while in Gainesville for the Imaging Duchenne Muscular Dystrophy Study. The University of Florida at Gainesville has a very large Bat Colony. They have two huge bat houses that house approximately 6,000 Mexican bats. We love to watch them at twilight while they make their feeding migration. Jon thought that Bat houses at the farm and at the stables, would help the eco-systems. Bats are very good for the environemnt as they feed on insects, and their droppings are good fertilizer for the soil. He hopes that the residents of the living center will enjoy watching bats making their feeding migration at twilight. Bats are pretty small. Their feeding migration is pretty fasinating. One scout bat circles the path to make sure the timing is right. It makes on circle around the migratatory pattern and then calls to the other bats. The bats fly overhead in search of insects and food. The large colony in FL is really truly facinating to see. As a result of watching the bats and watching various nature programs on TV, he has decided to seek a Bachelor of Science in Biology with a future focus in Zoology and Paleontology. He wants to be a research scientist. To pursue this goal, Jon has decided to live at home for his undergraduate degree. He has applied to RIT and Nazareth in Rochester, NY.

Jon recently received his acceptance letter from RIT and is now awaiting his status from Nazareth. Jon has always told me, that he won’t let having Duchenne Muscular Dystrophy stop him from pursuing a goal that he has set for himself. Our job as his parents is to help Jon remove any obsticles that may prevent him from achieving his goal. So far I think we have done a decent job at aiding Jon in reaching his dreams and aspirations. As we look toward his college career we need to maintain our flexibility in helping Jon reach his goals.

Update April 2011:
Jon's formal Eagle Scout Ceremony was held on April 13, 2011.  Jon recieved many honors, the ceremony was covered by both YNN News.

http://rochester.ynn.com/content/539972/teen-with-duchenne-muscular-dystrophy-keeps-on-achieving/

Advocacy really does matter!

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.

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.

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.

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.