I started this website talking about Jackson and the diagnosis with Duchenne Muscular Dystrophy, but we had a story way before that fateful day, so I think it only makes sense that I start from the beginning with Jackson.

To read about the Duchenne Muscular Dystrophy Diagnosis, click here. 

Jackson was born on April 17th, 2008

I went into labor the night before with him when my water broke at 4:45pm

I was in labor for 12 hours when he was finally born the next morning at 4:55am.

He was so adorable, had a TON of hair, and we immediately fell in love.

The first 3 days were great, but then after that everything quickly became difficult.

Jackson had a ton of feeding issues and I was in the hospital working with the lactation consultants like crazy.

He was losing weight, but refused to nurse.

I ended up having to pump and giving him milk that way and supplementing a little as well.

After every time he would eat he would then scream so intensely, for 1 1/2 – 2 hours, after EVERY feed.

I could tell he was in pain and thought it was gas, so tried a few different problems for that.

He ended up having some horrible colic that lasted until he was 4 months old.

It was SUCH a difficult time and it really made me question myself as a mother.

Once we finally found a formula (Nutramigen) a hypoallergenic formula and then mixed that with acid reflux medication and it seemed to do the trick.

Only 4 long months of colic and then we were on a much better path!

From that moment on I felt like there was NOTHING that I couldn’t handle, I’d already got through the most trying days with him, so I had no more fear looking ahead.

Everything was smooth sailing for quite some time.

It was around 16 -18 months that I began to have mother’s intuition and had a feeling that something might be wrong.

There were a few clear things that made my days extremely difficult and that was mainly the horrific meltdowns everywhere we went.

There was also the fact that Jackson wasn’t really talking at all and there was a complete lack of eye contact.

I am a lover of books and noticing these few things, I began looking things up and thought it could possibly be autism.

I enrolled him in an early intervention program for some guidance and it wasn’t the best fit for us.

Since he had no known diagnosis yet, they would almost use him as a guinea pig and try different things on him,

and more often than not I would pick him up and I would hear him screaming from an entire hallway over.

I still have a hard time with weighted vests…haha

I took him out of there and began doing private speech therapy.

We went a few times a week and in the meantime I researched the right doctor and found an autism expert in Ann Arbor, Michigan, named Dr. Solomon.

We would have to wait quite a long time before we could get an appointment and in the meantime Jackson saw many other doctors, but no answers came from any of the appointments.

Just frustration, fear, and tears.

After waiting months before we could see him,  Jackson finally got in, he was 2  1/2.

We spent 3 hours with the doctor, he assessed Jackson, played with him, got a sense of who he was, and it was a WONDERFUL appointment.

We walked away with a mild autism diagnosis and actually what should have been a dark, difficult day was actually a relieving day.

I had known for the last 8-10 months that something was off, but no one could figure it out.

It took an autism expert of 20+ years a couple of hours and he could tell me exactly where Jackson was and how we were going to get him better.

I learned that there was a school for children with autism that is ranked top in the country because of all the services they get:

Speech therapy

Occupational therapy

Physical therapy

ABA therapy

and Dr. Solomon’s approach, The Play Project

Not only do the children get time for socialization with other peers, they also get half the day one on one with a teacher.

They also had a giant play room/ sensory center that the children just LOVED. He began school when he was 2  1/2 and remains there currently.

He will be leaving in June and then beginning kindergarten in the fall.

To see the progress that came out of this school, followed by therapies at home, and also incorporating a biomedical doctor with supplements, Jackson has changed 180 degrees.

He is such a wonderful, sweet, calm, inquisitive boy. The teachers are amazed at his progress, as are we.

It’s not to say that the whole autism diagnosis was a piece of cake.

After being relieved to get the diagnosis and start receiving the right therapies, there was a lot of emotions I had internally.

I didn’t want to tell anyone that he had this diagnosis.

I didn’t want people to discount him, to think that he is unteachable, or to think that he can’t comprehend what was being taught to him.

It was so excruciating when other parents would ask why he wasn’t talking {he also is huge for his age so he looked 1-2 years older).

It took me quite some time before I told anyone about the diagnosis.

I just wanted people to love him and see him for who he was, not a label.

I read just about every autism book I could get my hands on and tried everything you hear about.

It was actually how we got to the Duchenne diagnosis,

we were meeting with our biomedical doctor, about to begin supplements,

when she ran that bloodtest and it went awry after that.

 I have learned that in this life you have NO IDEA what is going to be given to you.

You just have to consciously make the choice to move forward, be happy, have faith, and know that there is a greater plan and that it will all work out.

All is Well.

 

To learn a little about Duchenne, here is something I made up for Jackson’s new school, read here. 

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.