Created a New Blog under Blogspot.com

I haven't posted on this blog for a few years. I found that my creativity was at a low. Hoping the new blog will help.   The new post has a specific purpose and was created as a resource page to a presentation I created for the 2016 Parent Project Muscular Dystrophy Conference in Orlando FL. 


I compiled a list of resource links.  Most of them came from the PPMD page.  I heard many people more than once say that they couldn't find something.  You can find the list at the new blog below.


I just started a new blog under https://whatsnextduchenne.blogspot.com

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.

Herself First Blog - What I know About.......

This week I provided a blog to Herself First.  This Month the "What I know About..... blogs are on being a Mom.  Enjoy my witty, wry description of myself as a Mom.

What I Know About ...... being a Mom.

A Mother's Wisdom!

Last week I participated in a pod cast called Kitchen Table Conversations with HerSelf First.  I really enjoyed the conversation with Sheila Moeschen, Kathi Kinnett, and Kris Hersom.  It was truly an enlightening conversation! Click here to listen to the Podcast.

As I was preparing for this conversation, I realized that a lot of time is spent focusing on my son.  As my daughter so aptly put it a couple of months ago “Hey, Mom, you have another kid you know.”  At 21, my daughter is moving into adulthood.  One of my greatest teachers was my own Mother.  My Mother passed away in 1999 when my daughter was 8 years old.    As I look forward to my daughter’s future, and she becomes her own person, I wish she had a chance to really get know my own mother and learn some of my mother’s lessons first hand.  They are really inspiring and independent messages. 

A.      You never know how strong you are until being strong is the only choice you have.

One of the most vivid memories I have is the day my Mother told my father to move out. I was in elementary school.  My parents’ relationship was not a Norman Rockwell painting.  My father owned a pool hall and loved to gamble. He didn’t think women should go college or have jobs.  He believed women should get married have babies and stay home.  My mother got a job as a historical librarian and had a career that she loved and was renowned for her in depth knowledge of Manchester NH.  When I was in high school my father developed inoperable lung cancer.  My mother asked my father to move back home so we could care for him.  One of the last conversations I had with my Dad was that he told me was that my mother had convinced him that I should go to college and get my degree.   

My mother had courage and strength to separate from my father, in the late 60’s when it wasn’t accepted.  My mother decided to pursue a career that she loved and was passionate about, against her husband’s wishes. My father later told me that he was pretty proud of her.  My mother showed compassion toward my father. My father could make her completely crazy with his get rich schemes and some of his dumb decisions. In the end they both showed me that even though they didn’t live together they both deeply cared for each other. My parents ultimately cared about each other.  They both had inner strength to look past their differences and allow one to care for the other during the difficult times.

B.      Don’t be afraid to fail, be afraid not to try and never give up.

My mother had me late in life. She was 40 when I was born. She suffered severe post-partum depression and was hospitalized in a mental institution for a few months. There she suffered electric shock treatments and was put in isolation. Techniques, to treat post-partum depression back then were in their infancy.  When I asked her how she managed; she said that she recited literary poems out loud to keep her mind active; with the recitation she could keep the demons at bay. In doing so she never gave up trying to get out the fog.  She was released after a few months, fully recovered from the post-partum depression. When my son was diagnosed with Duchenne, it was my mother that said:  “Don’t be afraid to fail, be afraid not to try and never give up.”   Doctor’s may not know everything and it’s OK to question them and seek other opinions.   You may not find a true cure, but you can provide a much better quality of life then they are predicting.  Keep searching and researching.    Do what you think is right.   Now when, the doctor tells me how well my son is doing after a check up, I hear my mother’s voice in my head saying. “You never gave up.”  

C.      Daughters are very special people.

My mother’s insight was coming from a place of insecurity.  Her own family didn’t think she was that smart and didn’t think that she would amount to much. She proved them wrong when she was eulogized in the Manchester Union Leader and in the Boston Globe for being one of the most respected historical librarians in New England.    My mother always emphasized that milestones in a daughter’s life should be celebrated and she should be made to feel special.  I have always tried to celebrate the milestone in my daughter’s life.  Girls need extra support and validation that they are OK sometimes.  My daughter has two favorite memories.  The first one was on her 13th birthday. We spent her birthday weekend in New York City with her aunt and cousin.  We had a great time with dining, shopping and seeing the Lion King.  The other memory she has is when we went looking at colleges in New England.  We stayed the night with one of my best friends and sorority sister from college.  My daughter loved hearing about our bad dates, boyfriends and fun antics we had during college. 

There are many life lessons that I learned from my mother.  However, I think that if I impart these three lessons to my own daughter she will end up with an indomitable spirit that will allow her to ride life’s roller coaster. 

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

A little discomfort and joy!

Jon’s second semester at college has been rewarding and frustrating.  While Jon is on campus, things are a little easier.  Jon has a power chair that is stored on campus and he can navigate independently.  Jon doesn’t have a power chair yet permanently.   He can still walk and get in and out of a regular car, with a little help.  However, getting power chair of his own and an accessible van is extremely time consuming, especially if going through the state for any kind of monetary grant.   It seems to take months and months to get anything approved.  Because of this I always feel bad that Jon needs to rely on either me or his Dad to drive and pick him up.  My inner monologue usually is “I wish we had the power wheel chair and the van already; I could just throw the keys to one of his friends and say have fun!”  “What 18 year old wants to have his parents around all the time?”

Friday nights are usually late nights for Jon, he likes to stay at school and hang out with his friends and watch the basketball game.  Therefore they are late nights for me and my husband. A few weeks ago he came home early, and asked if he could attend the Nazareth Commuters Association outing.  “Mom, would you mind taking me?”   In my head I’m thinking: “Really, Jon you have to ask? Like I’m really going to say no?”  I answer out loud, “Of Course, Jon, what time and where am I going?”    Jon replied, “Great, Thanks Mom! I haven’t been in the commuters lounge for a couple of weeks, they seemed glad to see me and they said they had an extra ticket.  I told them that I would probably meet them at the bowling alley, but I needed to check first.”  I said, “Well, you better text back a let them know that you will be there.”  After a series of text messages it was decided that Jon would meet them at the bowling alley around 9:15pm. The group planned on meeting at the college and carpooling. I said “Jon, are you sure you don’t want to ride with your friends?” Jon’s reply “No Mom, it’s OK it’s just easier for me to meet them.”

As Jon was getting ready for his night out, I asked Jon do you want the manual wheelchair.  Of course he said no.   I was worried, again my inner monologue “What if he falls? What if he gets hurt, blah, blah, blah?”  However, since Jon is 18 he should know when he needs assistance or not.  So I didn’t voice my worry out loud.  We got to the bowling alley.  Some of his friends were waiting.  I had to laugh when a very tall muscular guy approached the group and said “Hey, Jon, dude, where’s the rest of you?”  Jon laughed and said “Well, one’s at school and the other is at home.”   “Are you cool with it?”  The guy said “Yeah, sure!”  Jon turned to me and said “Bye, Mom, I love you.”    That was my queue to leave and wait for his call for me to pick him up.   He called little after midnight to be picked up.    When I got there, a smaller group of his friends were waiting with him.    They drove together, but didn’t want to leave Jon there alone.  

I asked Jon how is night was during our ride home.  He said it was good.  The bowling alley had a shoot system so he could bowl without having to lift and throw the ball.  One of his friends put the ball on the machine and Jon rolled it down the ramp.  “I had fun! It made it easier for me to bowl.”   Just as I got out of the car to help him get seated, I heard the group laughing really loud, as if someone told a joke.  In my head I’m thinking I hope Jon isn’t the brunt of the joke.    I asked Jon about the laughing I heard.  He made me laugh when he told me about one incident that happened while they were waiting for me to arrive.  “Mom, there was this group of girls that arrived in a stretch limo, they were all drinking and smoking.” “One of the girls walked up to my group of friends and thought we were all really young looking, and asked how old we all were”.  She said “OMG, you all are soooo young looking, how old are you?”  The four people Jon was with answered with “22, 21, 20, 19.”  The girl looked and Jon and said, “How old are you?”  “Jon, said, I’m 18, yeah, I know I look about 13.”  The girl said “OMG, You are so adorable, can I give you hug?”  Jon didn’t answer right away, he was uncomfortable. The girl said “Oh Am I making you uncomfortable? Well, OK we need to make up a secret hand shake or something.”  “You are just too cute not to!”  Jon told me that the girl smelled of cigarette smoke and alcohol and he was taking a few steps back as she was invading his space.   One of Jon’s female friends looked at the girl making the advance and said “Back off, he’s my boy!”   Jon said, “Thank goodness for Kailey.” “I don’t think I would have gotten away from that drunken girl without her.”   He and l laughed about that all the way home. 

As Jon comes into his own, I need to accept that he is no longer my little boy.  He is maturing into a smart and thoughtful young man despite my worry and discomfort. I have to agree with Arnold Bennett who once said “Any change, even a change for the better, is always accompanied by drawbacks and discomforts.”

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.

Destiny, Life, Karma, Whatever

Earlier this month, I traveled to the New York City marathon to cheer on my friend and co-worker Ludovic Raymond.  Ludovic ran the New York City marathon in honor of my son Jonathan. There were three distinct events during this trip that indicated to me that Karma, destiny, a higher power, or whatever may exist.  

The first event occurred during dinner on Saturday night. I was introduced to Ludovic’s wife.   She teaches at the University of Pennsylvania.  She asked me if I knew any Duchenne guys attending the University of Pennsylvania. I said yes I did.  I relayed the story of how I met this young man at one of the Parent Project Muscular Dystrophy Annual conferences.  He was attending the conference with his parents.  He had his iPod on. As I walked by him I recognized a rock song. I said; “Hey I know that song, its Def Leppard.” He looked at me like I was crazy, that someone my age would know the name of the song and the name of band.  His Mom is about my age, she said “I can’t believe you listen to that music!”  Laughing I said: Don’t let my looks fool you, deep down I’m a rock and roller at heart.” One item on my bucket list is to get a tattoo; I just need to figure out what it should be.”  I said “I’m sure our sons would enjoy meeting each other and would have a lot in common.  My son’s favorite band is AC/DC.  This year at the Parent Project Muscular Dystrophy Conference in Baltimore Jon met this young man and his brother and enjoyed getting away from me for a while.  Ludovic’s wife laughed at my story and then said, I think I have this student in the class I’m teaching.  We thought that it was an interesting coincidence that she was teaching this student and that her husband was running the ING NYC Marathon in honor of a guy with Duchenne.

The second event occurred as the Run for Our Sons cheering section waited to cheer all the Run for our Sons runners as they passed. There were 34 this year.  The wife of Parent Project Muscular Dystrophy’s Board Chairman, Stefanie Killian, told me a story of meeting a family affected by Duchenne while she was teaching kindergarten.  She met this family many years before her own son Sam would be diagnosed with Duchenne. Recently, while in the checkout line of their local Target, Stefanie recognized the clerk as the sister of the kindergarten student that Stefanie taught many years ago.  Stefanie related her personal story about Sam and her family to checkout clerk.  Sadly, the clerk told Stefanie that her brother had passed away and that her family never met another Duchenne family.  Stefanie felt that this family came into her life to help her cope with Sam’s diagnosis, and for her to provide some support to help this family heal.

The third event occurred as I was waiting in the security line at JFK airport to catch my flight home to Rochester. A TSA agent asked me if a passenger could step ahead of me. I said yes, the women he was helping looked very frazzled and stressed out. I over heard her saying to the TSA agent that she couldn’t find her boarding pass or her ID. All she really wanted to do was fly home.   As she took her jacket off, she found her boarding pass and id in the inside pocket. To her great relief she was able to go through security without a hitch.  As we started pushing our belongings on the belt to go through the x-ray machine, I noticed that she was stiff and limping a little.  I asked if she ran the marathon, she said yes.  She asked if I ran the marathon.  I said no, but I was in NYC to cheer a friend on, who ran it in under 3 and half hours. I asked her how she did, she looked at me embarrassed and said that she hit the wall and couldn’t complete it.  She was running in honor of her cousin’s son who has Duchenne.  I said my son has Duchenne too and that was why my friend was running. She and her running partner raised $6,000 for Parent Project Muscular Dystrophy. My friend and I raised almost $3500.   I thought that was great that they raised that much for the cause. I told her that it was ok, that she didn’t complete the race, she raised money for a good cause and she did her best.  As we continue to chat, she told me, that her cousin was really having a difficult time adjusting to the diagnosis. I gave her my contact information to pass along to her cousin. The woman who was frazzled in the security line, went off to her gate feeling that her cutting in front of me in the line was due to a greater destiny for both of us. 

I have to agree with Steve Jobs, the co-founder of Apple Computers, who said “You can't connect the dots looking forward; you can only connect them looking backwards. So you have to trust that the dots will somehow connect in your future. You have to trust in something - your gut, destiny, life, karma, whatever. This approach has never let me down, and it has made all the difference in my life.”    

Having a son with Duchenne is not easy. There are many times where I have wondered why me. However, I have always felt that it was destiny, karma, a higher power,  that has brought the people and the knowledge I needed to help me cope and provide my son with the attitude that he can accomplish his goals.  I am truly thankful for the inspiration and courage that my son brings me every day in seeing how he navigates life despite having Duchenne.  

Learning to sail his ship

Ever since Jonathan was diagnosed with Duchenne, I’ve often wondered and reflected on what his life would be like.  I’m always surprised and impressed with his can do attitude.

As we looked at colleges and careers, Jon made the decision to live at home on his own.   I was worried that he was making his choices based on what his Dad and I thought.  When we discussed living away from home:  I said: “Jon you can live away from home if you want, we will just need to hire a personal assistant to help you get ready in the morning and at night.”   Jon said, “Yeah I know Mom, I’m not sure if I’m really comfortable with that option.”  I said “OK; think about it for a little while and let me know”.  One night Jon announced that his college applications would focus on colleges within commuting distance.  

During high school he had a close group of friends and enjoyed his high school years.  Some of his close friends went away to school. I wondered how he would make the transition into the college setting.  Would Jon make friends?  Would he be liked for his sense of humor and his bright mind or would he just be viewed as the guy in the wheelchair? Would he be able to keep up with classes? Would he find a work-study job and be able to work and keep up his studies?  Most of these questions all parents consider when their child is heading off to college and their own independence.  

Jon started his college career with a four day orientation.  Jon chose to attend Nazareth College which is a small private college that is 60% female and 40% male. Jon liked the ratio of girls to guys.  Jon was busy from 7:00am to at least 10:00pm for those four days. The schedule for orientation was enough to tire and overwhelm me.  However, he seemed to thrive with his new found independence.  At the end of each orientation day he arrived home with a huge smile on his face and said he really enjoyed his day. He used his manual wheelchair for orientation and the kids took turns pushing Jon to various events. We met with the Disabilities Office to make arrangements to store Jon’s power wheelchair on campus. He only uses the power chair to navigate campus.  A storage place was found on campus where the chair could be charged back up at the end of the day.

My worries about transitioning to college were really exaggerated. This was highlighted when my husband came home after dropping him off, and said that he met the Dean of Academics. My husband helped Jon pick up his wheelchair and get his book bag hooked onto it.  Jon took off without turning around to say bye Dad.  The dean was watching this like a slow motion movie and said to my husband “I just love seeing new students adapt to college so easily.” After a few weeks, Jon was pretty well entrenched in the college community.  He tried out for the Improvisational Comedy Club, he didn’t make it but enjoys going to the shows.  He was elected the Vice President of the Commuters Association, he joined the History Club.  He did have a difficult time finding a work study job, but did find one for the fundraising Phone-a-Thon.  

Jon was at home when he had his telephone interview for this job, I overheard some of his answers.  “My experience at Nazareth so far has been really wonderful.” “I chose Nazareth because I wanted to study Biology and I thought the sciences programs would be pretty good, since the college has a Ph.D. program in Physical Therapy.”  “I really like the campus, I have a physical disability and use a power wheelchair; I really like the size of the campus and it’s easy for me to get around.”  

Jon has made the transition to college fairly easily. He has gained some independence despite Duchenne.  Like Aeschylus, Jon doesn’t appear to be afraid of storms, for he is learning to sail his ship.  

Jon at his Freshman Seminar Field Trip

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

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Finding my Gayle

I attended the PPMD Annual Connect Conference earlier this month.  Each year I always try to come away with something concrete  This year I found the session entitled Herself First very helpful and informative. It was of course geared toward Mom's caring for Duchenne guys.  However, I think women in general need to be able to concentrate on themselves.  Women in general are usually taking care of everyone one their families and neglect themselves.  One of the points from this workshop that really resonated with me was Finding my Gayle.  You may ask what that is.  I was speaking with a friend of mine who doesn't keep up with people in entertainment.  She thought I meant a Gale storm.  I explained to her that the reference was the relationship that Oprah Winfrey has with her best friend Gayle King.

The below was posted on HerSelf First website under the one minute wellness section.  As I thought about finding my Gayle, or if I could name my personal Gayle.  I realized that at this point in time, I didn't have one. In high school I had a few Gayles that I could always call upon.  In college I had a Gayle that helped me through the tough times.  When I lived in DC I had a couple of people that I could have called my Gayle's.  I also I had two Gayle's when I worked at Kodak through times of my sons diagnosis.  I left Kodak in 2003 and for a couple of years we remained in contact, we still remain in contact but do to my working in Buffalo and my friends new jobs we really don't spend a lot of time together  The person I refer to as my Gayle will ask me how Jon is doing and how my daughter is Kat is doing.  However, we both enjoy art, theater, and interesting exhibits. Things both our husbands would not find entertaining or interesting.  I have always enjoyed doing these things and really enjoy not thinking about the Duchenne world for a little while.  I hope all my female friends will enjoy the article below and will find time to "Find your Gayle",  and visit the HerSelf First website.  I think you may find this website helpful whether or not you have child with debilitating disease.  I think as women, we all need to "Get Our Gayle".

Got Your Gayle?

Monday, June 20, 2011

For twenty-five years viewers turned in to The Oprah Winfrey Show for information, enlightenment, and often, fun. Many times that fun came in the form of Oprah’s best est gal pal, Gayle King. Whether road tripping across the United States with little sleep and too much bedhead or literally climbing to new heights in their fantastic Australian adventure, Oprah and Gayle have done it all and most importantly have seen each other through it all.

Every woman needs their own “Gayle:” that go-to girl who will see you through the highs, lows, and everything in between, no questions asked. The bonds that women form with one another are unique and can be especially important when immersed in the role of primary caregiver. Ironically, individual well being often depends on the connections we form with others.

Take a minute right now and go over this checklist:

1.Whose your Gayle?

2. How often do you talk or see each other? What types of things do you do or talk about and how does that make you feel?

3.When was the last time you asked for help in order to make time for yourself?

4.Can you name three other people you call on for support?

5.What are three things you can ask for from someone else that will help alleviate stress or make space for you to focus on yourself?

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.