One Life on this earth is all that we get, whether it is enough or not enough, and the obvious conclusion would seem to be that at the very least we are fools if we do not live it as fully and bravely and beautifully as we can.

– Frederick Buechner

This brave and beautiful community has demonstrated in various ways, that this one life will be well-spent, focused on changing the landscape for our children. Today was a day we don’t see nearly enough in our community – today was a victory!

This morning, Sarepta announced that its discussions with the Food and Drug Administration (FDA) over the last several months have borne fruit—the FDA has agreed to allow Sarepta to submit a New Drug Application (NDA) for eteplirsen.  The company plans to submit the application by the end of this year and should have a decision from the FDA by mid-2015 about whether or not it will be approved.   Over the last several years, the chances that a drug will go on to be approved after an NDA is allowed is well over 50%.

After the NDA is submitted one of the three things can happen:

• The drug can be approved outright;
• The drug could fail to be approved (and the company could decide to do a traditional phase III study, but could not sell the drug until an NDA was approved); or
• The drug could receive “accelerated approval” meaning that it would be available immediately, but the company would be required to do a confirmatory study.

To hedge its bets and generate additional data, by the end of this year the company plans to start a confirmatory study in parallel to submitting the NDA, and will also conduct separate studies with younger boys and non-ambulatory boys.

In addition to the ability to move forward with the NDA, there were several other “wins” announced by Sarepta, including the FDA’s willingness to not require a placebo arm in the confirmatory study and the willingness of the FDA to consider data generated by the confirmatory study and additional studies with eteplirsen even after the NDA is filed.  The FDA also suggested that there may be a path forward to approving future exon-skipping drugs through an abbreviated process.

We believe that this evidence of flexibility on the part of the FDA is very responsive to the requirements of FDASIA 2013—the law that regulates the FDA’s funding and activities.   It’s also clear that the world is changing in rare disease as advocacy organizations show themselves to be true partners in the process of drug approval, whether it by providing the FDA with expert advice, documenting benefit/risk preferences, or expressing the will of the community with a petition that is over 100,000 strong.  We were particularly gratified to hear that PPMD’s policy forum played a significant role in providing the FDA with information it could use to make decisions about a path forward for eteplirsen.

As we digest this news, many of you are probably wondering what this means for other exons.  The signal from the FDA that there may be a path forward for faster approval of this whole class of drugs suggests that the traditional drug approval process may be shortened in its time line.  Queued up next from Sarepta are exons 53, 45, 50, 44, 52, 55, and 8, while Prosensa is working on exons 44, 45, 53, 52, and 55.   Prosensa is also working on a new approach for multi-exon skipping in the regions of exons 10-30 and PPMD is funding Toshifumi Yakota of the University of Alberta to work on a multi-exon skip of the exon 45-55 region.

Families who participated in the drisapersen trial may also be wondering if their boys are eligible to participate in the planned eteplirsen studies—based on discussions with the company this morning, yes, after a six month wash-out period (when the boys are taking no drug).

Sarepta will host a webinar in the very near future and all foundations will partner. We will be happy to share your questions with Sarepta when those details are confirmed.

We congratulate Sarepta and the whole Duchenne community for the various initiatives that came together to achieve these victories.  We also thank the FDA for showing flexibility while maintaining high standards that ultimately protect our children.

Today, we – the collective we – helped change the landscape, so that tomorrow our children can live their lives “fully and bravely and beautifully.”

Here’s a video of the wonderful Pat Furlong, head of Parent Project Muscular Dystrophy, announcing it:

https://www.youtube.com/watch?v=RY_XBioCijY#t=11

Article found here:

 http://community.parentprojectmd.org/profiles/blogs/sarepta-announcement-faqs-1?xg_source=activity

I recently had a meeting with my school district because Jackson will be entering Kindergarten and I wanted to make everyone was aware of what Duchenne is and not overwhelm them with TONS of information. I feel like little doses of information is the best way to go, so I created some handouts to give to the teachers, principal, and others he will be working with. I only put some background info about DMD and also what issues he may have pertaining to his age (6 years) this coming year. The team seemed very excited about the handouts and learning about Duchenne!

About Duchenne

Duchenne muscular dystrophy is the most common fatal genetic disorder diagnosed in childhood,

affecting approximately 1 in every 3,500 live male births (about 20,000 new cases each year).

Because the Duchenne gene is found on the X-chromosome, it primarily affects boys; however, it occurs across all races and cultures.

Duchenne results in progressive loss of strength and is caused by a mutation in the gene that encodes for dystrophin. Because dystrophin is absent, the muscle cells are easily damaged. The progressive muscle weakness leads to serious medical problems, particularly issues relating to the heart and lungs. Young men with Duchenne typically live into their late twenties. There is no cure.

Cardiac problems eventually occur with Duchenne and may start early or during the teenage years. Boys typically lose their ability to walk between the ages of 10-14 years old. By their late teens, young men lose the strength in their upper bodies, including the ability to move their arms and usually need help with breathing at night.Over time their breathing or respiratory systems weaken and they require constant support. Young men typically survive into their 20’s.

Physical symptoms

1. The boy will typically move slower or with more difficulty than other children his age.
2. He may appear clumsy and fall frequently, and have difficulty climbing, jumping, or running.
3. Because of his muscle weakness, he will become tired more easily, or will have low energy.
4. He may ask to be carried frequently, or need the use of a stroller for longer distances.
5. Some of his muscles (in particular his calves) may appear enlarged or overdeveloped. This happens because muscle cells are being replaced by scar tissue.
6. This process may also result in him being less flexible and having loss of elasticity in the joints (also known as contractures).

Transitional phase- 6 to 9 years old

During this time, a boy with Duchenne will have more and more difficulty walking as his quadriceps (muscles in front of the thighs) grow weaker. This causes him to be off balance as he shifts his weight while walking. He may walk on the balls of his feet or toes to stay balanced.

Trunk Weakness

In order to compensate for their weak trunks, a boy with Duchenne may stick out his belly and throw his shoulders back as he walks. When asked to stand, he will put his bottom up first and then use his arms for support by “walking” his arms up his legs until standing (Gower Maneuver).

Muscle Weakness

Although not apparent, he may begin to have heart problems requiring medication. Most have difficulty carrying books or other school materials (even when using a backpack).

Fatigue

Fatigue is very common and he may need the use of a stroller, lightweight wheelchair, or electric scooter for longer distances.

Welcome!

Two years ago my son, Jackson, was diagnosed with Duchenne Muscular Dystrophy and at that time I had never heard of it. In the past 2 years I’ve learned an awful lot and wanted to share my experience about the sorrows, hardships, joys, and love that have happened along the way.

I’ve met some amazing people in the Duchenne Community, but feel like there are not many places to turn to when given a dmd diagnosis. I wanted to create a place for other families of boys (and some girls) going through this as well. I will be real, honest, and share my journey as it unfolds. I want to not only share what I learn about that, but also the other aspects of my life like inspirational stories, people, quotes, great kid crafts, recipes, and books.

Join along in the journey with me!

First of all, I’d like to share the story about Jackson and the diagnosis.

Our Story

It all began back in January of 2012, Jackson was 3 years old and had a diagnosis of Autism (which I’ll share about later), and I was taking him to see a Biomedical doctor to try the gluten free/casein free diet and supplements to see if if would help him out. After meeting with the doctor she ordered a routine bloodtest to make sure that there weren’t any underlying disorders before beginning supplements.

A few days after getting Jackson’s bloodwork done, I got a phone call from the Doctor. It is a day I will NEVER forget. First of all, because I knew she was away on a family vacation and she was calling me and #2) because she then said, “I received Jackson’s labs and I need to discuss something with you”.

I was left wondering what was going on with my son? I looked up some things online and wondered if it was Celiac disease, thyroid, autoimmune, hepatitis, tumors, or cancer.

I made an appointment to get some more testing done-

The next step was to see a pediatric neurologist to find out if the problem was originating in the brain or muscle.

February 22nd, 2012 I took Jackson in to see this specialist and had no idea what to expect.

“I think your son has either Duchenne or Becker Muscular Dystrophy”.

Just like that. As cold as stone.

 When I got home I looked it up and this is what I read:

Duchenne muscular dystrophy is an inherited disorder, a fast acting genetic condition that mostly occurs in boys. It is the most aggressive form of  muscular dystrophy.
By age 10, the person may need braces for walking. By age 12, most patients are confined to a wheelchair.
There is no known cure for Duchenne muscular dystrophy.  It is a muscle wasting disease, it is fatal, there is no treatment.
Death usually occurs by age 25, typically from lung and heart disorders.

I read that and I just sobbed, and sobbed, and sobbed.

So, then I took Jackson in for the test, and then I waited.

And waited, and waited, and waited.

6 weeks feels like a lifetime when you’re waiting to receive news like this. And then that April, a little over two years ago, I received the news.

It was positive.

Jackson has Duchenne Muscular Dystrophy.

It was so shocking, heartbreaking, and scary.

I knew nothing of this horrible disease, Duchenne Muscular Dystrophy.

For the next 3 days,  it was hard to eat, sleep, do anything.

I felt like dying, I was constantly in the bathroom getting sick, I felt  hollow, I was so cold, I barely could get through the day, but then I would wake up in the middle of the night and wasn’t able to settle my mind enough to get back to sleep.

After those 3 days of crying and fetal position on the bathroom floor and clinging to Jackson at every moment, I decided that this was my new normal.

That it is not ideal, but it was what I’ve been given.

I realized that while others would  look at him, they would see  what looks like a  healthy young boy.

But for me, I would know the difference.

I see the difficulty he has climbing the stairs, sitting up, and attempting to ride a bike. I know right now his body is the strongest it will ever be.

As a mother that is the absolute worst news I could ever have been given…that I will lose my son at such a young age and that this disease will ravage his body and eventually take his life.

From that moment on, I’ve researched and took the next year to meet with the leading doctors in the field (more on that later).

I’ve built a wonderful team of specialists that Jackson see every 4 months and track his

progression.

I know I don’t have much time with my precious son, so I have decided to rise above this and to celebrate him and make each day special.

I live life to the fullest and stay as positive as I can.

Duchenne Muscular Dystrophy is such a horrific disease and research for it is so desperately needed to find a treatment.

If you would like to donate I have set up a Fundraising Page for Jackson.

Donations can be made here.