RJ turned 11 in February and with that brought the usual family birthday celebrations and more Lego building!  Since the polar vortex lasted longer than we all wanted we kept his celebrations going for several weekends until finally we declared his 11th birthday officially over (or we would have been partying all month)!

We certainly have reason to celebrate with five years having gone by since RJ was diagnosed with Duchenne and the fact that RJ is still doing fairly well.  A recent appointment at Cincinnati Children’s Hospital in January was positive overall.  The doctors are happy with RJ’s strength, but do believe he has peaked and is showing some signs of decline.  They increased his steroid dosage to try and get the most out of his current strength.  An MRI to the heart showed us that his heart is performing well and we received thumbs up from his cardiologist!  This is very good news as the heart and lungs are the major areas of certain for DMD boys.

His lungs are below average; they have collapsed slightly which is of some concern to his pulmonologist.  RJ has begun using a BiPAP machine at night to help with his snoring and hypoventilation and the doctors hope that getting a better mix of oxygen and carbon dioxide in his lungs will help RJ get a better night sleep.  RJ does fairly well sleeping with a breathing mask each night, but of course it is one more thing to add to his bedtime routine. 

This past Fall, with the help of his endocrinologist, we decided to start RJ on daily growth hormone shots to see if we can add some inches to his height.  RJ doesn’t seem to concerned about his lack of height, but we don’t want to lose the opportunity for him to gain some height before it is to late and his growth plates have closed.  Medically, doctors say he has steroid induced short stature.  After four years of being on daily steroids he has not grown much at all which is a side effect of his steroid medicine.  We laugh with RJ about good comebacks when people comment on his height and the one RJ likes is, “I am not short just vertically challenged!” RJ is thrilled to finally be 48” and able to ride more rides at amusements parks! Although he does get comments about being in the 1st grade and he is repeatedly asked if he is old enough to take communion, it does not faze him much.  

RJ is on a mission this year to add more pins to his United States map.  He loves to explore and visit new places and then add a pin to his map, which is hanging in his bedroom.  We hope to road trip to some Northeastern states this summer and add some pins for RJ (and hopefully see family and friends).  RJ just loves social studies and is fascinated with the American Revolution so hopefully we can visit some historical sites. Also, since his Dad frequently works in New York City and New Jersey, RJ is excited to see where his Dad works when he is not home.

So much is happening in the research world that it is hard not to touch upon some of the promising research being conducted.  The following article was published in MDA’s Quest magazine in the Jan-Mar 2013 issue.  We thought it was a good overview of one of the promising treatments for DMD. 

Eteplirsen trail results extremely encouraging
The exon-skipping drug eteplirsen showed extremely encouraging results in both an October and a December report from Sarepta Therapeutics.  The experimental drug is in development to treat boys with DMD who have mutations that potentially can be treated by skipping exon 51 of the dystrophin gene (RJ is missing exons 22-29).  

Exon skipping is an experimental strategy in which cells are coaxed to reinterpret genetic instructions by “skipping” certain sections (exons) of a gene and piecing together the remaining parts to create a functional protein.  IN DMD, the protein is called dystrophin.  

On Oct 3, Sarepta announced results of a 12-person trial in which boys treated with 48 weekly intravenous infusions of high-dose eteplirsen increased the distance they could walk in six minutes by about 69 feet.  By contrast, boys who received placebo infusions for the first 24 weeks and then eteplirsen for the next 24 weeks declined in walking ability by a bout 224 feet over the same time period.  A group that received a lower dose of eteplirsen fro the entire48 weeks declined similarly in walking distance. 

All trial participants, including those who initially received placebo infusions, showed a significant increase in dystrophin protein in sampled muscle fibers at the 48-week time point.  The boys who received eteplirsen for the entire 48-weeks showed an average of 47 percent of their muscle fibers producing dystrophin.  Normally, 100 of muscle fibers produce dystrophin; in DMD, fewer than 5 percent do.  

There were no serious adverse events and no one discontinued treatment.  

“These data represent a significant milestone and a defining moment of progress and hope for patients with DMD and their families, as well as for those of us in the scientific community who have been pursuing potential treatments for this devastating and deadly disease for decades,” Dr. Mendell said.  

On Dec. 7, Sarepta reported data from an additional 14 weeks of this trial.  The 62-week results show continued stabilization of walking ability with eteplirsen.  

Sarepta is continuing to follow the progress of the participants in this trail and plans to meet with U.S. Food and Drug Administration (FDA) to discuss next steps toward approval of eteplirsen.

Drisapersen in Phase 2 and 3 trials
In November, multinational pharmaceutical company GlaxoSmithKline (GSK) announced that its experimental drug drisapersen, which (like eteplirsen) targets exon 51 of the dystrophin gene, appears to be safe and to reach adequate blood levels after injection in nonambulatory boys with DMD.  The trial included 20 boys who had been using a wheelchair full time for one to four years, and who had specific mutations in the dystrophin gene.

What does this mean for RJ?
As Sarepta announces promising results from its phase II interim data and GSK follows up its promising phase II data with a phase III study, things are looking good for an exon-skipping based therapy for Duchenne…if you happen to be in the 13% of those with Duchenne who have a mutation that can be improved by skipping exon 51.  RJ is not in the 13% because he is missing exons 22-29.  

Although RJ falls in the other 77% of families out there dealing with other types of mutations including other deletions, duplications or point mutations, what does an exon 51 success mean? From the big picture standpoint a success with a drug focused on exon 51 means that we will have, for the first time, a “proof of principle” that the course of the disease can be modified beyond the effect gained by steroids. It means that work on skipping additional exons to include a broader range of mutations will speed up dramatically. It also means that companies working on other types of therapy that are not mutation-specific and their investors will gain confidence from knowing that the disease is not inflexible. It means that there will have been established a “regulatory path” or roadmap that can be used by other companies to approve additional drugs. It means that new born screening will become ethically acceptable and we will identify all affected children earlier, which will in turn allow those children to participate in trials of new drugs at even earlier ages.  

Bottom-line is that success with exon skipping 51 would hopefully lead to success with other exon skipping like RJ’s missing 22-29 exons!

We have to admit that 2012 was a tough year in our extended family with several sad family occurrences and once again we were reminded that you never know where life can take you.  We all are grateful for the support and love of one another and the hope of a better, healthier tomorrow!

Before we talk about RJ, we want to thank everyone who has been so supportive of our family over the past four years with prayers for RJ, kind words of encouragement and charitable donations at one of our various events. We are happy to share that Rally4RJ has raised over $100,000 in the past four years to help advance research toward a cure for Duchenne Muscular Dystrophy.  Your generosity is truly making a difference and finally the Duchenne community has real hope for a better tomorrow with all the promising research currently taking place!

We are cautiously optimistic, but it is a promising time right now. Research is finally moving forward with several human trials taking place in the United States (actually right in our backyard at Nationwide Children’s Hospital in Columbus, Ohio under the direction of Dr. Jerry Mendell) and genuine hope for a treatment could be on the horizon.  The Duchenne community is waiting and wondering if/when it could happen.

RJ continues to be very strong. Still stronger than the average and the doctors are not sure if it is from the daily steroids he takes or because he is producing just enough dystrophin to keep him walking for now.  Unfortunately, he isn’t nearly as strong as his friends and that is becoming more and more apparent the older he becomes.  He has just about given up his favorite sport (football) at recess.  It is heartbreaking. He says he can’t keep up and the kids tell him he doesn’t play well (the truth I'm sure), he is only at a preschool level physically and that is ok but not when your friends are starting to get really good.  It makes us sad, but not RJ.  He roams around with the girls or any boys he convinces not to play football during recess.  Honestly, he rarely ever gets down. He is always in search of someone to have fun with, talk with and laugh.  This is a lesson for us all on how to live each day being thankful and positive.

We learn so much from RJ and his journey each and everyday.  Life has forced us to stop, listen, and enjoy.  Our family has become stronger because of this.

Joe and I were part of the record turnout 20,000 runners in the 35th annual Rite Aid Cleveland Marathon. We never dreamed of running a half marathon, never have run any race in our life, but we did it for RJ. We ran to raise awareness and funds for Duchenne muscular dystrophy. We had all the motivation we needed as we saw RJ at mile 5 and he told us to "run faster"...LOL!! Then, the thought of our smiling son waiting at the finish line carried us through the 80 degree temperatures and pain of the last several miles. I have to admit that I was in pain and Joe was the real closet runner, ready to run farther and thoroughly enjoying the moments of the last mile...even smiling! Of course we didn't realize that RJ was most excited about seeing the first marathon runner cross the finish line. We were downgraded by a fast Kenyan! The fact that the first place MARATHON runner finished in 2 hours 19 minutes which was before we even crossed the finish line for the HALF marathon did not diminish our excitement of finishing our first ever race. We both trained for 6 months. We trained at separate times. We rarely ran together because we had different paces and different strides. However, on race day we ran together and crossed the finish line hand in hand, united in our goal. We not only finished a half marathon together, we strengthened our belief that together we can provide RJ the care and love that he will need during his incomprehensible journey with DMD.

Thank you to all of our seventeen runners that made up the RALLY4RJ team. Thank you for your time, commitment, support (and aching bodies). No matter what race you ran or how you did, you are winners in our eyes!  Little did we realize that we had speed on our team. Julia Dreher and Bella Piazza finished the 5K race in 1st and 2nd place for their age group! Congratulations girls! Maybe they can start training now and take over our half marathon spots. We hope to double the size of our team next year!

Thank you to everyone who has contributed to our race, sent us kind words of encouragement, and has kept RJ in your prayers. Our team raised over $18,000 for PPMD and their unending quest to find treatments and a cure for DMD. We are strengthened by the love that surrounds us.

We saw a win by the Browns...it was only a preseason game…it did not make a difference to RJ…the adventure was awesome!

It is amazing to us how much RJ loves football.  He talks about football, he watches football, he understands the game and proclaims that it is his favorite sport, and he even likes listening to talk radio about football.  Yet, he has never played a game.  His sister throws him passes day after day inside the house until she can’t stand it anymore.  He wants to be tackled and to constantly punt the football (again in the house!)  He can hardly kept up with his friends at recess and has on numerous occasions proclaimed himself the referee since he realizes he can’t catch most passes or throw very far.  Nothing will keep him from loving football.  Sometimes we stop and wonder; why does he love a game that he can’t play well at all?  We would give anything for him to be able to play football with his friends.  He is not strong enough, fast enough and would easily get hurt due to his weak bones.  We wish he were on a team to feel the excitement of the game, spend more time with his friends and be good at a game he loves.  But the reality is that it just won’t ever happen.

We realize that it doesn’t matter to RJ.  He is happy, he has excitement playing with his sister and friends, and he is good at football (as good as he can be).  RJ never asks for anything more.  Well, maybe a trip to an OSU game next year!

It is hard to explain to others why RJ is doing very well physically.  His team of doctors at Cincinnati Childrens Hospital thinks that perhaps he is producing enough dystrophin (muscle protein) to keep him stable for now.  Duchenne is very complicated and affects each boy somewhat differently.  His doctors don’t know for how long he will continue to be strong because so far he has not showed signs of any major physical decline. This is not typical at all.

It is fair to say that he has peaked in terms of strength.  On average, boys on daily steroids can typically maintain muscle mass for 2-3 years longer than boys without steroids.  RJ has been on daily steroids for over two years.  Apparently, he is responding to the steroid treatments positively in terms of strength.  We learn to deal with the other side effects and try to explain them to Shannon, his friends and family.  Doctors are hopeful that he could beat the “average” and walk longer because of his current strength but timetables are just a guess right now.  We continue to live in the present and all that he can do right now while we prepare for the future.  We know that everyone’s prayers are helping him stay strong for as long as he can and hopefully until a treatment is found.

May you be blessed with God’s gifts of peace, joy, and love at Christmas and always.  We appreciate and thank everyone who has continued to support us on our journey.  

Merry Christmas!

On Easter Sunday our family went to Siesta Key Beach in Florida for a new adventure. We had been to this beach many times before but never in the evening and never with the sole mission to find "ghost crabs" buried within the sand. RJ had his flashlight and was ready to not only find a crab but to secretly capture it and take it as his pet. His numerous attempts to get a pet hermit crab by his bedside had failed.

His flashlight was shining bright but no crabs were to be found. Curious onlookers wondered what we were doing and with each question we would explain the mysterious crabs we were hunting for. As time went on, still no crabs. Suddenly, RJ got excited because he found a shell (which is not something new) and the special shell he found had a saying written clearly on it,"He is Risen." RJ looked at it and said, "that's awesome!"

RJ was very excited and went on to fill a plastic cup with many shells that had various other Easter sayings written on them. And so our outting to find ghost crabs ended with not one single crab...but for RJ he was grateful for the adventure with his Grandparents and happy with his shells. 

Warm wishes to our family and friends for a blessed New Year!

As most people do around the holidays, it is a time to reminisce about the past year and make resolutions for the year ahead. With regards to RJ it has been a difficult past two years. Two years ago December, we had to listen to doctors explain to us that RJ has a devastating progressive genetic disorder that will slowly rob him of all his independence, medical obstacles will await him at every corner, and currently there is no treatment or cure. Last year, we had to decide to start RJ, at the very young age of six, on a daily regime of corticosteroid medication to hopefully add several years of mobility onto his life and maybe protect him from spinal surgery that seems all to common for boys with DMD. This past December, we stared at a bottle of Prozac that we needed RJ to start so we could determine if it could help his Obsessive-Compulsive Disorder (OCD) that appeared out of nowhere this past summer.

Some days we look at RJ and wonder what is happening to our sweet little boy? OCD is playing so many tricks on his brain it is hard for him to function “normally” and break free of the disruptive rituals that characterize this disorder. We thank God each day that OCD has not followed him to school. We knew it would be a journey and we take what is presented to us each day and try as hard as we can to remain calm, focused and positive. We would be lying if we said it was easy, it isn’t. We welcome help that comes to us from many different people.

Our acceptance of the situation and love for one another truly carries us through the difficult decisions we continually need to make for RJ and our family. We find joy in smaller accomplishments that RJ has on a daily basis. We do believe that God has a plan for all his children and that RJ will have wonderful life filled with love and happiness. We constantly put things into perspective. Problems that used to be a big deal no longer seem as important or overwhelming in our daily lives. We certainly live the routine life that most people do trying to juggle work, school, chores, activities, family time, and relaxation. Most of all we truly value our family life and try to spend as much time as possible together enjoying each other’s company.

We have some new hope. Currently, RJ’s doctors believe that his physical strength is very good compared to the average and that may ultimately allow him to walk longer. The longer RJ can stay ambulatory and be like his friends – that would be the best gift.

I guess you could say that our resolution continues to be that we choose to be hopeful and happy.

Our family made another visit to the Mote Aquarium in Sarasota to see the giant sea turtles. Well, the turtles were awesome as usual, but RJ being a typical kid declared the SHARKS were his favorite! RJ is now in shark mode.

School is now out and this brings much joy and happiness to RJ and Shannon. RJ was blessed with the best first grade teacher any parent could ask for and is ready for the second grade. Many thanks to his teacher, Mrs. Chinchar at St. Bernadette School for her tireless efforts in helping RJ come into his own academically, socially, and spiritually. Thank you for making a difference in RJ’s life.

In June, RJ attended a week-long overnight camp sponsored by our local MDA office. While he was not overly excited (it was his first year), we knew he would have nonstop fun at camp and begin to develop valuable friendships with other kids living with neuromuscular diseases.

After his week at camp, RJ happily proclaimed, “I only want to go back again next year if I can have the same counselor, the same friends in my cabin, and the same food!” Special thanks to Angela (RJ’s counselor) and MDA for an amazing experience. RJ’s favorite things at camp were playing 21 at casino night, steak night, canoeing, fishing, and swimming each day (we can’t wait to tell RJ’s swim teacher he named swimming as a favorite).

RJ takes everything in stride and only recently said, “Mom, I liked it better before my leg problems.” He realizes he can’t compete with his friends and usually just opts out of anything physical or anything that is a physical competition. We hate to say it out loud, but thank goodness for Wii, DS games, and Star Wars movies!

We are truly amazed by RJ’s wonderful group of friends and their acceptance of RJ for what he can do. As adults, we can all learn valuable lessons from the unconditional love that kids have for one another.

RJ’s friends (7-year old boys) say things like:
“I will wait for you RJ.”
“I will never leave you behind.”
“I will shoot a basket for myself then one for you to make it fair.” 
“You start running first, RJ, and then I will go in a bit.”
“I won’t jump so hard in the bounce house because RJ doesn’t like it.”
“It is ok that RJ has to swing several times before he hits the baseball.”

We hope this honeymoon phase that RJ is currently in continues longer than average before we will begin to see increased weakness and overall fatigue. Please continue to pray for a treatment and a cure to happen in time to make a real difference in RJ’s life.

Happy New Year! We enter 2010 with our hearts not nearly as heavy as they were in 2009. While no cure has been found, hope has grown in other ways. Initially, hope only meant a cure for this devastating disease. While a cure will always remain number one on the list, so many other hopes have been satisfied. We have come to realize that hope means so much more. On our current list,

• Hope that RJ would love the first grade...check 
• Hope that RJ would do well academically considering his learning challenges…check
• Hope that RJ’s physical limitations would not impede new friendships…check
• Hope that RJ is happy…check check check
• Hope that RJ’s body tolerates the daily corticosteroid medicine that he began several months ago...check
• Hope that we can live each day in the present and not dwell for long on what is going to happen in the future…check
• Hope that our love for one another and faith in God is strong enough to carry us in our journey…check

RJ turned seven years old on February 5th. In some ways it was bittersweet. We want time to stand still. RJ is doing so well physically that we want it to be Groundhog’s Day every day, but of course it isn’t and with each new day we wonder if he is going to be as strong as the day before. We realize that once the downward slide begins only a treatment, a cure, or a miracle can change the course of his DMD.

RJ started his birthday celebration with an outing to his first ever Cavs game with his Dad and his Grandpa Sullivan. He loves watching the Cavs and proudly wore his #23 Cavs shirt (that went to his knees because apparently all the small sizes were sold during Christmas)! He was excited to see The Shaq Attack and The King and how tall they must be. When RJ arrived home, almost all expectations were meet. He had wings before the game, popcorn at the game, excitement during the game from constant cheering and the Cavs brought home a victory against the toenail clippers (as he calls the LA Clippers). However, when you sit three rows from the top of the Quicken Loans Arena, even Shaq does not look tall!

His family party was filled with an unexpected surprise. His Aunt Julie came from Oregon to be part of the celebration. He was very excited to say the least. RJ’s sister Shannon, who might have a career in party planning, had the whole party day planned out for RJ. She made programs for everyone, a magic show for entertainment (with RJ as her assistant), games for everyone to play including a scorecard to tally the winners of each game, pin the lightsaber on a Star Wars figure that she drew, and a homemade work of art. She painted RJ a sea turtle on a piece of stretched canvas. He proudly has it hanging in his room.

Although RJ is not strong enough to play basketball with his friends on a team, his Aunt Maureen and Uncle Dino sent him an arcade style basketball game with a timer, a buzzer and a three point line. After a little practice and a chair to stand on (to make him closer), RJ was able to make his first basket…his birthday couldn’t get any better. But wait, it did get better. RJ got to pick out the food for his party, we had potato chips/dip and hot taco dip as appetizers, pizza, chicken wings, and ice-cream cake. Not one thing healthy…perfect in RJ’s eyes. He is very happy to be seven years old because when he was six he always ate six wings to correspond with his age but now the revelation set in, he could eat seven wings! He eats them like a true Buffalonian (his Mom grew up in Buffalo) covered in hot sauce, blue cheese/celery on the side and every last bit of chicken taken off the bone! Thank goodness for the celery, we finally had something from another section of the food pyramid! As we put RJ to sleep that night he proclaimed it was the best birthday ever....music to our ears! How could we not be happy?