For even more information about Duchenne, check out the following link to this short clip of a packed, educational, and relatable collection of interviews from a range of boys with the genetic disorder of Duchenne Muscular Dystrophy.

www.tinyurl.com/DMDaware
https://youtu.be/16cLkmOSHGY

A special thanks to Mrs. Jennifer Garofalo for writing this week’s post. The following is a collage of stories directly from a mom of a 14-year-old boy with Duchenne. These stories show the good and the bad, but most importantly the fact that DMD does not define who you are…

My son is not defined by DMD

The very first time you hold your baby in your arms, their entire future flashes before your eyes.  Who they will grow up to be, all they will accomplish, and how you are blessed to be their parent to help them navigate through life.

We knew pretty early on that something was different about Danny.  By 12 months he was immersed in the world of Dr’s and daily therapy sessions, whether it was Physical therapy, occupational therapy or after the age of two, speech therapy was added.  He couldn’t crawl or speak or even bend his body but man he had a smile that lite up the room (still does). He was diagnosed as a right hemi they called it. Cerebral palsy(CP)! Mild! It would get better with time and therapy and he would easily adapt to his surroundings.  Except that each month when they thought he would meet milestones, he never did.  And then the Fall after he turned three, he couldn’t walk more than two houses for trick or treating and wanted to be carried.  He also had what looked like absent seizures.  He would be talking to you and then just blankly stare and then start talking again a few seconds later. After months of testing, the Drs. wanted him to be admitted to the hospital for a 72-hour EEG to see what was going on.  It was during that hospital stay that we found out he wasn’t having seizures, but he did have Duchenne Muscular Dystrophy (DMD).  WOW!  I remember thinking how hard I thought his life was with CP, we had no idea what hard was. And just like the day he was born, I watched his future flash before my eyes and it was so drastically different and heart wrenching.

But here is the thing, in life, you will always be faced with adversity and paths to pick.  It is how we choose to handle these day to day paths that will define who we are and how we see life.  A very dear therapist who was involved since the beginning with Danny gave us the BEST advice that we still use today “Do not enable him. Things will get hard, be there for him but do not let him act a victim.” And I think anyone involved in our lives know that is exactly how we handle this disease. It is just that; a disease that is part of him, but it doesn’t define him.  Does it limit him? It can. Do you need to get creative and find work arounds?  Yes!  And hopefully that is what we have taught him, there is almost always a work around to any situation. 

More than anything though, he teaches us. He teaches us how to push through adversity.  Push through when you feel left out or different.  Push through when days are hard.  He brightens the day with his smile and his snarky teenage attitude.  Does he get in trouble? Heck yeah! At the end of the day, you need to be a respectable human being, no matter wheelchair or not, and he has two younger brothers who look up to him. 

His whole life has taught all of us to stop and focus on what’s most important. Each other and time.  Enjoy the gift of time.  None of us are guaranteed tomorrow.  #makeeverydaycount

-Jennifer Garofalo

So, what is the Disney Marathon Weekend? The Disney Marathon Weekend is an annual event, that takes place every January, where thousands of runners and walkers participate in a series of races. Whether these races are to run for a cause or for someone who wants to make a personal record, it is a great opportunity to travel home with some bling!! These races are our biggest fundraising event during the year and our funds each year have increased from $5,000 (11 years ago) to $83,000 (this past year). This weekend takes place in Orlando, Florida. The races that are offered are a series of children's runs such as the Mickey mile as well as the 5K, 10K, half marathon and full marathon. The 5K has an average of 12,800 participants and the 10K has 12,700 registrations. Near 26,700 runners register for the half marathon and 26,700 for the full marathon. Disney offers a variety of different challenges, such as the Goofy and the Dopey. The Goofy challenge is the half marathon (13.1 miles) and the full marathon (26.2 miles) combined, which makes a total of 39.3 miles over the course of 2 days. The Dopey challenge is a 4 day stretch of 4 races, the 5K, 10K, half, and full, which combine to make 48.6 miles. During this weekend, runners will together run an average of 1,100,000 miles. That is the distance it takes to travel around the earth 46 times. The courses take you through and around all of the theme parks when combined and are full of entertainment such as bands, character meet and greets, water stands, rides, and snack. These races not only create more awareness and funds but also bring our team and the running community together at the Happiest Place on Earth!

The following link will lead you to more information and registration access from RUN Disney:
https://www.rundisney.com/disneyworld-marathon/registration/

Duchenne Muscular Dystrophy is a genetic disorder that robs the ability for many muscles to properly function. This condition occurs in one in every 3500 boys and has side effects that continue to progress throughout their life. This disorder is more likely to affect males than females because dystrophin has a greater chance of being absent. To further explain, Dystrophin is an important protein located primarily in muscles used for movement. When this protein is not found within the necessary protein complex, the muscles will lack muscle fibers. Dystrophin also acts as a “glue,” it’s job is to connect the framework of each muscle cell and when that job is not done the muscles grow weak and can no longer function as they are primarily meant to. Furthermore, the muscles that are affected by this absents lose their ability to function and therefore cease to work. When a young boy is diagnosed (between the ages of 1-6) with this disorder, the average age for more frequent treatments is at the age of 9 years. The muscles begin to weaken and the side effects slowly progress, beginning with the legs and easing its way to the arms and cardiac muscles.

To continue the discussion of why males are more likely to be impaired by this disorder, it is first important to understand the human body. Male chromosomes are identified by XY whereas females are XX. What this means is Dystrophin has a greater chance of being absent in one X chromosome as opposed to two. So, if Dystrophin is not present in the X chromosome of the males XY, they will inherit this disorder. However, Dystrophin would have to be absent in both X chromosomes of the females XX for the female to inherit this disorder. Because of this, it is rarer to come across a young girl that has this genetic disorder.

One way to pass this gene on within a growing family is if the mother is a carrier. What this means is – going back to the chromosomes – the female would have one normal dystrophin gene on one of the X’s however, an abnormal, absent dystrophin gene on the other. Most carriers do not show signs of the disease. In other situations, a young child with this disorder could have been a spontaneous mutation where the genetic coding did not properly align to allow the Dystrophin to settle in the muscles, instead the Dystrophin would be absent entirely. The example below quickly summarizes the passing on of Duchenne Muscular Dystrophy.

As time passes, the muscle weakness gets worse and unfortunately will reach the cardiac muscles. With research and hard studies, many genetic chemists have found treatment that have slowed down the process of many muscular dystrophies. Now, instead of the life expectancy for these boys to be uncommonly beyond their teen years, many boys are surviving into their early thirties and sometimes in their forties and fifties. These statistics continue to give hope and help researchers to thrive in hopes of finding a cure for this genetic disorder.

Hello, my name is Katie Napoli and I am a long-distance runner for Team Danny under the organization of PPMD. I am very family oriented, organized, and adventurous. Running has always been a passion of mine and my career as a runner began about six years ago. However, I first decided that I wanted to make a change about eleven years ago when my cousin Danny Garofalo, who is six months older than I am, was three years old. At this young age he was diagnosed with Duchenne Muscular Dystrophy. From then on, our relationship as cousins and best friends grew. Now, we began to build our team, Team Danny and over the course of eleven years our team has raised over $330,000. With research, my family found an organization called PPMD which stands for Parent Project Muscular Dystrophy. This organization is the largest non-profit organization in the United States that focuses on finding a cure for Duchenne Muscular Dystrophy. Their help gave us knowledge and expectations of what it is like to be a boy with Duchenne Muscular Dystrophy (DMD). We slowly realized how much we all have in common; we all have hopes to one day find a cure. We started to look at all of the possible fundraising that we could take part in with the other teams under PPMD. Now, we run every January in the Walt Disney Marathon weekend where we are proud to wear our colors. Danny's case of DMD progressed and he was wheelchair bound at the age of eight. The following year, I began running more frequently and that's when I found the motivation and the passion that I have towards running. From then on I have been a devoted runner- I am not saying that I enjoy every run but what fuels me is who and why I am running. It's all about finding the passion and drive in doing what you love.


This blog will be devoted to answering as many questions as possible and creating a clear analysis of what Duchenne Muscular Dystrophy is as well as personal running experiences, genetic information, donation information, short clips of interviews and educational videos.