Moments in Life

It’s August already!  I haven’t written a blog post since May.   It’s been a very busy summer for us.  I started a new job. My daughter had a wonderful experience for 6 weeks in Australia. Jon completed a summer class.  Jon and I traveled to the Fort Lauderdale for the Parent Project Muscular Dystrophy Annual Connect Conference.   He was a panel member and provided his perspective on being a trial participant.  We took a very quick trip to NH to visit some family and friends.  Jon has been using the summer to adjust to having his own power chair. He will be able to navigate campus and use the equipment in his biology and chemistry labs much easier.  Jon’s chair is a Permobil c300 with the tilt and the elevate feature. 

Jon is also beginning to learn how to drive.   There is an organization in my area called DriveOn they teach disabled people how to drive safely. They have a modified van with the electronic modifications like the kind Jon will need in his own vehicle.   Jon is excited about the prospect of driving. He was able drive on the road with his driving instructor this week using his wheelchair in the instructors modified van.

Jon shared his driving experience with his friends when they met at local ice cream parlor.  The summer will be coming to end soon. Jon’s friends and his sister will be going back to their perspective colleges in a week or two.  This past weekend was low key, pizza, and wings.  My husband and I watched the movie a “Time to kill” while Jon preferred to surf you tube and play some video games.  His sister was out with a group of friends.

The low key evening turned into a very late night for Jon and my husband. They watched the Perseid Meteor shower until early morning.  Jon wrapped in a blanket tilted back in his wheelchair, and was enamored watching natures light show igniting the night sky.   My husband was equally thrilled he was able to watch the night sky with Jon.   This morning as we started our day I enjoyed listening to both of them discuss how beautiful the night sky looked and reminded me of a quote Rose Kennedy “Life isn't a matter of milestones, but of moments.”    I’m extremely gratified to be able to share these moments with my family.

Bubble Gum, Duct Tape, Spit, and Wine!

For the past month I felt like the old TV show MacGuyver more so than normal or the line from Project Runway, “Make it work!”   At the end of March I finished a five year assignment in Buffalo NY.  I live in Rochester, NY.  For anyone that doesn’t know how far that is, from my home to my office I logged approximately 176 miles round trip; about three hours a day driving.  Most people that live in NYC, Chicago or Boston understand.  However, in upstate NY there really isn’t a good way to commute this distance via public transportation other than to drive. So a couple of years into this assignment, I was grateful that I could work from home twice a week.   

When the assignment ended I was grateful, I could now be in Rochester and be able to help Jon get ready or take him to school and hopefully find work in Rochester.  My husband needs a break sometimes.   However, life with Duchenne is always changing.   A few weeks ago Jon slipped in his room getting out of bed in the morning.  He fell and ended up with a compression fracture. Normal things like dressing, bathing, eating and toileting became “Make it work” events.  He couldn’t walk anymore without lots of pain, transfers between the car and getting to the wheelchair we needed to figure out.  The upside, I figured out how to drive his wheelchair. I would have Jon stay in the car while I brought his power chair to him.   My husband used the manual chair to get him from the car to the building where we store his power chair on campus.  It took a couple of weeks to get the x-rays and the MRI to uncover the precise location of the pain.   Jon kept saying he bruised coccyx.   A week after Jon fell; he and my husband were on a plane to Utah for the Ataluren clinical drug trial. My husband made it work.  They needed to wait for the isle wheelchair which is always a long and tedious process.  Jon managed the pain with Tylenol.  On Sunday, they called from Utah and said that Jon’s pain wasn’t getting any better.  I called the Dr. first thing Monday to get an x-ray scheduled for Tuesday morning.   The x-ray uncovered a problem, however it wasn’t clear if this was an old issue a new one.  In 2007 when we had a complete work up done at Cincinnati children’s, I had foresight to request a complete report of the test results. I was able to notify the back specialist where the previous fractures were.  It was determined that an MRI was needed.  Insurance needed to approve the MRI.  It took a week to determine that it was a mild compression fracture.  Jon will need a back brace.  I spoke with the back specialist regarding the brace; my concern is always to keep Jon as mobile for as long as possible.  Can a brace be made to account for Jon’s posture?  Jon’s standing upright and walking is a balancing act that he alone has figured out.  I’m not sure if we can brace his back so the fracture heals and still allow Jon to walk.   We met with the brace specialist.  The brace will ready in a week.   In between the appointments for the measurements and picking up the actual brace Jon saw Dr. Biggar.   Jon is now walking and the back pain is gone.  Jon may not need to brace by the time it’s ready, but we will have it for next time.

Life with Duchenne, is ever changing and filled with “MacGuyver “and “Make it Work” moments. My analogy for anyone that’s not dealing with Duchenne is that my life is held together with bubble gum, duck tape and spit and on occasion a glass of wine.  However, no matter what your life is like I think we can all take some lessons from the MacGuyver TV show.

Lessons Learned from the TV Show MacGuyver’

* Any problem can be solved with a little ingenuity.
* One person can make a difference.
* Never underestimate the power of chocolate.
* Nice guys don't always finish last.

http://www.neloo.com/fannesite/lessons01.html

Advocacy is what we can do from home too!

My family has made advocacy part of our End Duchenne agenda for many years.  My daughter Kat, Jon, and I have always tried to attend the advocacy conference.  This year Kat and I will attend, but Jon’s college studies will prevent him from attending.  Biology, Analytical Chemistry and English are taking up his free time. Jon really wants to make sure he doesn’t miss any of these classes or miss any assignments.

Even though Jon won’t be able to take the time off from his college course load to attend the conference; he plans on getting involved by participating in the packet drop off campaign.  This is a very easy and effective way anyone can participate from home. Visit http://www.parentprojectmd.org/getactive and check out option #2 to make your voice heard from home.

This year more than ever we need everyone’s voice!

Jon was featured as the February Voice of Duchenne.   Please take a moment to meet Jon.

Jon and his sister Kat

Advocacy is what we dare to imagine!

Having sons with Duchenne forces us into advocating for services, equipment and optimal health care.   In reality, whether we are getting services for our son at school, dealing with insurance companies and doctor’s in trying to get the best care, or meeting with staff and members of congress we are advocating.  In 2000 when Parent Project Muscular Dystrophy first organized their advocacy efforts in Washington DC, my family felt it was important to meet with our members of congress. By the time the MD Care act was authorized in 2001, we had gained the full support of our representative and both Senators.

Parent Project Muscular Dystrophy has organized the Duchenne community’s voice to help leverage over $450 million into muscular dystrophy research, with over $200 million of that for Duchenne-specific research. Our collective efforts have also helped to establish standards of care in Duchenne for the first time in history.

After 11 years of advocating in DC, my family still feels that is extremely important to educate members of congress on Duchenne.  When I first traveled to Washington to meet with the Health Legislative aides in my representatives and senators offices I was a full time working Mom in my 40s.  I had trouble saying some of the terms that were vital in explaining how important NIH support is to a rare disease like Duchenne.  I was really nervous! Our training session was given by young smart 20 to 30 year olds.   It was during our training session on Sunday when I realized that being versed in the scientific terms and coming off as a Washington expert really wasn’t my role.  My role was to educate my representatives on Duchenne and how it affected my family.  It was important make sure that these offices knew that this issue was important to someone who lived and voted in their district.  I thought “I can do this! It’s just coming up with a brief elevator speech about my son and how Duchenne affects my family.”  The other thing that made me feel a little more comfortable would be that each meeting would be with other advocates from my state as well.  The group of advocates in each meeting would be able to help each other out.

Through the years the representation has changed for my congressional district with almost every election.  Therefore it has been extremely important to make sure that that PPMD’s agenda has been maintained by building relationships with both my congressional representative and their aides in Washington.  I have found that I have been successful with a lot of persistence and a little bit of honey.   My experience has been to follow up to my meetings in Washington with hand written and email thank you notes to the people I met with during the advocacy conference.   Even if a meeting did not go as planned, you can build a lasting relationship by letting the representative know that their staff was helpful and attentive. Periodic updates of PPMD’s agenda and how our sons are doing also help build the relationship with the Legislative Aides and our representatives in Washington.

To quote the late Senator Paul Wellstone who was the one of the original Duchenne champions in Washington: "Politics is not predictions and politics is not observations. Politics is what we do, politics is what we create, by what we work for, by what we hope for and what we dare to imagine."   PPMD imagines a world without Duchenne. One of the ways you can help to End Duchenne is to participate in PPMD’s advocacy efforts in Washington. PPMD of course would love to have a person from each state attend the conference.  But if you can’t attend, PPMD makes it very easy to participate in a variety of ways.  Please visit http://www.parentprojectmd.org/getactive to help achieve a world without Duchenne.

Human Spirits for the New York City ING Marathon!

 Ludovic Raymond is a co-worker who moved from Paris France to Buffalo NY. He defines himself as a ‘real’ runner since 2008. Running a marathon for a charity has been in the back of his mind, especially since the impact – in terms of fund raising – is much bigger. It is also a way to give something back to running, which has brought so much to him in the past few years. His wife, who already pushed him into running and has experience working with young people whose mobility is limited, asked him ‘"why aren’t you running for a charity?" His answer was simple, "yes but I have to do it for Christine and her son".

Ludovic and I sit next to each other in the office. I am always interested to hear of Ludovic’s successes as a marathon runner. I knew he ran the Chicago marathon. Ludovic’s passion is running marathons. I’m always impressed by anyone who has the dicisipline to train and run a marathon. It is truly an accomplishment.

One day I overheard Ludovic say that he had entered the lottery to run in the NYC ING marathon. A few weeks later I asked him if he got into the Lottery, he said no, but had another Lottery chance to enter and was waiting the result. I said; “If you really want to run the NYC ING marathon to let me know. Parent Project Muscular Dystrophy is one of the charities with open spots for that marathon.”

I have served on the Board of Directors for Parent Project Muscular Dystrophy since 1999. I am very passionate about this organization’s mission and goals. My son was diagnosed with Duchenne Muscular Dystrophy on December 31, 1997. My son Jon will never be a marathon runner. Ludovic said ‘ I’m a little nervous about the fundraising.” I said ““If you don’t make this lottery and still want to run, let me know.” “I will help you raise the money.”

We have combined our spirits and our passions to raise money to End Duchenne, Ludovic has entered to run the NYC ING Marathon under Run For Our Sons. I would like to take this opportunity to introduce you to my son Jon, who was diagnosed at 4 with Duchenne. Jon is almost 18, and still mobile, but will begin his freshman year of college using a power wheelchair. He plans on pursueing a degree in Biology. He has received his Eagle Scout Rank in the boy scouts. During his senior year in High School he participated in Model UN, the 1511 Rolling Thunder FIRST Robotics team. In addition Jon’s favorite rock and roll band is AC/DC..

Your support will raise the needed funds for future therapies and clinical trials. Jon is particpating in the Ataluren drug trial at the University of Utah. We are hoping that this drug will soon be approved by the FDA. This drug will help slow the progression of Duchenne which will allow a better and longer quality of life. Jon is also participating in a trial at the University of Gainesville on a new MRI that can read muscle, which we hope will aid in analyzing the duchenne progession without the need for a biopsy.

When Jon was diagnosed in 1997 there were 4 clinical trials for Duchenne Muscular Dystrophy. There are now 54 in the pipeline. However, the progression of Duchenne is very specific to the patient and also to the mutation that the patient has. The progression is very individualized. A 17 year old like my son could may be doing very well, but a 14 year old might not be able to walk or feed himself; by 20 they may have lost their life.

With your help we will: “Never underestimate the power of dreams and the influence of the human spirit. We are all the same in this notion: The potential for greatness lives within each of us.” ~Wilma Rudolph

Please make a donation:

http://www.parentprojectmd.org/goto/Ludovic-Raymond

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/