PPMD has a long history of advocating for the Duchenne Community on Capitol Hill. Through a collective voice, PPMD has been extremely successful over the past 20 years with asking Congress to support public health, research and related federal programs that have helped spur research breakthroughs, extend the lifespan, and improve the overall quality of care for those diagnosed with Duchenne. Currently, the therapeutic pipeline is strong with two drugs approved by the FDA within the last year and a half and 26 more drugs at several different stages in the pipeline. 

On March 4th I decided it was time to join PPMD on Capitol Hill and make my voice heard in the fight to end Duchenne. I was fortunate to have my dear friend Ann Dreher support me and join in the fight to urge members of the House and Senate to sign the 2019 Duchenne Muscular Dystrophy Appropriations Request letter. The appropriations letter, among other things, asks Congress to maintain level funding of $6 million for CDC's Muscular Dystrophy Program. Other requests included asking the CDC to support the advance of Duchenne newborn screening, requesting the NIH to demonstrate its stated commitment to improved research data-sharing, encouraging the FDA to continue implementing policies to promote access to information about how patient experiences data is used within reviews of newly approved products, requesting that the Social Security Administration make available data on the rate at which those with Duchenne utilize SSA programs, and seeking a report from Medicaid and Medicare on the use of the newly established ICD-10 code specific to Duchenne.

Ann and I were able to meet with both Senators from Ohio (Rob Portman and Sherrod Brown) and also our Congressman, Jim Renacci. During our meetings we educated them about Duchenne and gave them an overview of how Duchenne has affected our families. More specifically, I discussed the impact of Duchenne on RJ's daily life. In a nutshell, I told them our family has been navigating the Duchenne world for almost 10 years and it has completely altered our lives. Our family feels like we have been stuck in the eye of a hurricane and we can't get out. Our sweet 15 year old son RJ who is smart, funny, and hardworking stands strong no matter the daily obstacles in front of him. He is resilient but our family needs hope. We know time is running out and we need help to achieve advancements in research and hopefully one day a cure for Duchenne.

Another component of the Advocacy Conference included a one day Duchenne Patient-Focused Compass meeting. This meeting was taped and can be viewed below. In the audience were federal agency partners including members from the FDA, NIH, CDC, and CMS. It was a long, emotional day listening to panels of parents talk about the toll that Duchenne has taken on their sons and families, clinical trial and therapeutic experiences, and access to services and supports but the goal was to have the federal partners became more educated to the priorities of the Duchenne community.

I was so glad to have the opportunity to be an advocate with PPMD for the Duchenne Community. I hope all our efforts made a difference! Thank you again to Ann for taking up the fight to end Duchenne all the way to Capitol Hill! 

It is all about high school in our house! ​Both Shannon and RJ are settling into the daily life of high school. Shannon is a senior at Magnificat and RJ a freshman at Holy Name. ​Shannon is busy enjoying her last year before college. Currently she is spending all her free time playing golf on the Mags Varsity Golf Team. The team just won the Sectional Championship and is busy practicing for the District Tournament with hopes of making it to the State Tournament in Columbus. We are very proud of all her hard work both at school and on the golf course. Good luck to the team and Go Blue Streaks!

​RJ is getting settled into life at high school and enjoys playing the drums in the marching band. While RJ couldn't march, he could stand stationary on the sideline and still be part of the band. High school has come with many challenges for RJ including just physically navigating such a large school while keeping up with the fast paced environment. RJ is resilient and faces each new day with a smile and an unbelievable determination to succeed and enjoy life. Thank you to everyone at Holy Name HS that helped make his transition to high school go so smoothly. 

Below is the letter our family sent, along with other letters from families around the country, to the FDA to urge them to approve the first ever drug therapy for Duchenne.​ The drug was finally approved by the FDA on September 19, 2016. While this drug can not currently help RJ, it is helping a small percentage of boys with Duchenne (those missing exon 51 which is approx. 13%). Approval of this exon skipping drug sends a clear message to researchers to continue to develop other exon skipping drugs so more boys with Duchenne can benefit from this therapy.


Dear FDA Advisory Committee Members for Eteplirsen,                                                                                        April 11, 2016
 
For almost eight years our family has been a part of the Duchenne Community. Our son RJ has lived more than half of his life with a Duchenne diagnosis. He is only thirteen years old. We have been waiting for access to promising therapies, like Eteplirsen, for eight years.
 
The voice of the Duchenne community is strong, our family faith is strong, our hope in a treatment is strong but our son RJ who has remained stronger than the average still continues to weaken with each passing day.
 
Duchenne has robbed RJ of so many typical childhood experiences. Running, jumping, swimming, throwing, and catching have always been a challenge for RJ and never age appropriate. Every year the gap widens between RJ and his friends. The wider the gap, the greater risk of injury to RJ and the less he seems to have in common with his friends.
                                Playing on sports teams…never.
                                Riding bikes with friends…never.
                                Carrying his drums to band practice…never.
                                Spending a day not worrying about Duchenne...never.
                      
Simple daily tasks like climbing the stairs, standing in the shower, lifting his dog, carrying his backpack, and getting on/off the school bus are becoming harder. Everyday at school RJ has to advocate for himself and constantly ask others to help him with routine tasks. Junior high is when you need to blend in for approval but this is not RJ’s reality. RJ’s stature might be extremely short, but we encourage him to stand tall with self-acceptance.
 
Unfortunately, RJ has had to learn many life lessons at an early age. Have tough skin, ignore the hurtful words, discount the stares, disregard questions about physical appearance and strength, don’t worry about not being included, and be happy with yourself. They are indeed wonderful life lessons but should they be a daily way of life for a child?
 
As parents we spend each day advocating, caring, researching, worrying, hugging and consoling. We live each day with the hope of a better tomorrow. Our time is now.
 
RJ has big dreams. He wants to learn how to drive, go to high school, graduate from college, obtain a good job (presently as an environmentalist), get married and have a family. Mostly, RJ wants to remain as strong as possible given his Duchenne diagnosis. Eteplirsen will slow the progression of Duchenne and give our boys the extra time to have a fighting chance.
 
We urge the FDA to approve Sarepta’s Eteplirsen and send a strong message of hope to all the boys currently taking the drug and an even stronger message of hope to all the boys waiting for the development of additional exon skipping drugs. RJ is waiting and our family is hoping that approval of Eteplirsen will set the stage for the biggest advancement the Duchenne Community has seen. Big enough that one day all of RJ’s dreams will come true.
 
The time is now!

Thank you,
Joe and Suzanne Sullivan    

Although Cleveland was blessed to have a mild winter most skiers were not happy with the conditions. Even though many weeks were cancelled due to no snow, RJ was able to ski several times with Three Trackers of Ohio. The mild weather did not put a damper on his fun! RJ, with the help of Jennifer and Joe worked on his goal of skiing by himself. Even though RJ only skied by himself for a couple minutes, he did it and his thrill of skiing by himself will last a lifetime. Thank you Mark Dietz of Three Trackers and all the volunteers who sacrificed their time to come help those who need a little extra help in life to enjoy the things most of us take for granted. You have no idea how much happiness and confidence you gave RJ! 

It was several years in the making but RJ finally convinced us that our family needed at puppy. We welcomed Chewy Junior Sullivan, a 5 pound Shih Tzu on July 22nd. RJ is in heaven! It was the only Christmas gift he wanted and it came a couple months early, on a sunny summer day. The joy for RJ and our family has been wonderful. Despite the slow potty training (which we find out afterwards is no small task for a toy dog), several eaten pairs of Shannon's flip flops, and one chewed and exploded pen all over the hardwood floors, it has been a seamless transition to life with a puppy. The pictures are worth a thousand words! 

Another incredible opportunity for RJ this past July at Youth Challenge's Annual Regatta. RJ had his first experience sailing at the regatta and while he loved being on the open waters he will not forget to bring motion sickness pills next time! Shannon was a volunteer at the event and enjoyed a smoother ride on a boat with her participant. The regatta took place at Edgewater Yacht Club in Cleveland on a beautiful sunny day. RJ had the ride of his life cruising through the Inner Harbor near downtown Cleveland, passing such scenic sites as the Cleveland Browns Stadium, the Rock and Roll Hall of Fame and Museum and the Steamship William G. Mather Museum. Thank you to all the staff and volunteers (especially to Maggie, RJ's volunteer) at Youth Challenge for RJ's opportunity to experience being on a sailboat and enjoying an afternoon filled with fun, laughter, and a little motion sickness. Additionally, to all the generous people who donated their boats and their time to take the children on Lake Erie....it was priceless!

They say that a picture is worth a thousand words. No need to say anything more. One surprise trip downtown for what RJ thought was only dinner at the Winking Lizard turned into a Cavs game for RJ's birthday. What a night as the Cavs did not disappoint the birthday boy! At halftime they had a franchise record number of points and LeBron went on to lead the Cavs to victory over the Charlotte Hornets. RJ was physically tired by the end of the night after all the cheering he did to support his team. Good luck Cavs, he can't wait to cheer for them in the playoffs! His birthday was complete...that was until he wanted a BIG steak, scalloped potatoes, asparagus and ice cream cake for his birthday dinner. RJ dreams big... and shouldn't we all?

Again, we are amazed how things can happen. As ski club was in full swing at RJ's school and the disappointment set in for RJ that he could not be part of all the fun and shared memories with his friends, another door opens up. In comes Youth Challenge and the amazing opportunity for RJ to feel the excitement of skiing and be able to talk about that experience. One warm day, yes hard to believe we had a warm day during this arctic winter, we headed out to Brandywine with Youth Challenge to experience the Three Trackers of Ohio Program. It did not disappoint. RJ was so happy to be given the opportunity to ski and be like his friends. His legs are not strong enough to ski by himself and all the muscle strength it takes to ski would damage his deteriorating muscles. We weren't sure what to expect and assumed he would be sitting in a sled like structure, but we were surprised. Just when it couldn't get any better for RJ, in comes a 6th grade boy named Camden (Youth Challenge volunteer) who came over to RJ and told him he would snowboard alongside him and that they were going to have a blast. Thank you Camden!

Well, it is that time of the season when it is so easy to get bogged down with work, school, and getting ready for the holidays with too much shopping, decorating and cooking making. We added yet another dimension and made a visit to Cincinnati Children's Hospital for more routine tests. Results from an MRI to RJ's heart revealed that some scarring on his heart has begun. While  this news was disappointing, it is expected with RJ's Duchenne diagnosis. RJ can begin taking medication that the doctors are hopeful will slow down the progression. The heart, after all, is a muscle and will unfortunately be greatly affected by his Duchenne muscular dystrophy. All is not lost, our overall visit was extremely positive. RJ's doctors are very happy with his overall strength and ability to manage the side effects from his medications (although some days are harder than others). We are grateful for the tremendous care RJ receives from his team of doctors and the very personalized attention that each doctor demonstrates. We celebrate the good news and hope that in 2015 one of the many trials that are currently taking place will show promising results that could benefit RJ.

What a busy month for everyone. Shannon graduated from 8th grade and is extremely excited to be entering Magnificat High School in the Fall. While Shannon is sad to leave the familiarity of St. Bernadette School after 9 years, she is ready for new adventures in high school and another milestone in the journey of life. She will be working on her golf skills all summer to get ready to tryout for the Mags golf team in August. After 10 years on the soccer field she is hanging up her cleats and trying something new. No need to mention that Joe is excited to play many rounds of golf with Shannon this summer and also help fine tune her golf etiquette skills :)  

A quick trip to Cincinnati Children's Hospital for RJ, after school ended for the year, revealed music to RJ's ears! After 9 months of daily injections he has finally grown 2 inches! While achieving six foot status, like his dad, will never happen he made it over 4 feet and now he can aim towards five feet! RJ was all smiles and stood even taller, in his mind, as his doctor was pleased with his growth and overall tolerance of the hormone therapy. While this achievement is not marked with as much enthusiasm by many, it is getting harder to be 11 years old and the size of a first grader! For that brief moment, RJ felt six foot tall and carried on with the rest of his appointments, needles, blood work, x-rays, tests, and nonstop talking with more doctors than anyone would ever have in there lifetime, with a renewed sense of accomplishment. This hospital visit was a milestone.

The next hurdle in June came when RJ attended MDA camp. He had his usual low key nature about the upcoming week and being gone for so long, but after we reassured him that he would not miss anything at home he was off to his 5th year of MDA Camp. I am told he quickly changes from apprehensive RJ to "the life of the party RJ!"  RJ takes it all in and enjoys all the experiences he has to be himself and be apart of a group of kids where being the best physically is not a sign of status and popularity. Everyone can feel good about their abilities. This was the year that RJ would overcome his fear of the rock wall. For several years he looked at the dauntingly high rock wall but was never able to believe in himself. This year would be different. As we dropped him off he was still unsure if he could do it but by the time we picked him up a week later he had conquered his fears and successfully made the climb (with adult help of course) to the top. Another milestone achieved!

Lastly, an update could not be complete without mentioning a family milestone that occurred at the end of June. RJ's grandparents celebrated their Golden Anniversary, 50 years of marriage, complete with a family celebration in Cleveland. As all the siblings, in-laws, and grandchildren assembled in Cleveland for several days of merriment, it was a time to reflect upon the importance of family. In times when the value of marriage is so easily disposed, it was very special to honor my parents (RJ's grandparents) for their milestone, 50 years of marriage. God Bless you Mom and Dad and thank you for your constant love, encouragement and support!