I recently read this article and it resonated so deeply with me that I just HAD to share it.

I see you.

And I don’t mean I physically see you (though I do). I mean I see inside you — I see the storm that’s tearing your soul apart, bit by unimaginable bit.

I can see you because I am you. Not now you, of course, but rather future you. And I’m here to say, I understand.

Whether you’re sitting in a hospital NICU or your car after a visit to a specialist’s office, your mother’s living room or your cubicle at work, I know your pain: a primal cocktail of fear and sadness and desperation and anger.

A feeling like none other you’ve experienced to date.

“They” have told you the second worst thing you could hear as a parent: Your child has special needs. Your child will never walk, talk, hear, see, process, understand, feel, be able to [insert physical/cognitive/functional ability here]. Your child is “not normal”.

And whether your child has suffered a sudden brain injury or suffers from a congenital disease doesn’t matter. The end result is the same: This child’s future is not the one you had imagined. This child is not the one you had imagined.

This child will not have the adolescence about which you have spent hours and days and months and maybe even years fantasizing. This child will need far more than you have anticipated. This child will become at once a trial and a blessing.

You feel guilty for having these emotions, I know. What kind of parent perceives her child as a trial? You should, after all, be glad s/he is here at all. And OHMYGOD you are. You are so indescribably thankful. You are so filled with love for this child, you could burst at any moment. But you are also worried. Very, very worried.

You feel guilty for questioning how you might possibly give this child the care s/he needs. You feel guilty for wondering how you will provide your other children with the attention they require. You feel guilty for fretting about how you will pay for all the medical expenses. You feel guilty for contemplating what all this will mean for your family routine and dynamics.

Some judgy types will jump to curse you for thinking of your child as a burden because that’s all they see in your raw emotion. They will ignore the undying love you have for your child. They will ignore how incredibly grateful you are to have your child. They will ignore your desire to do whatever it takes to ensure your child is safe and happy and healthy. Instead, they will preach about how they would never ever ponder these questions, or worse, if they’re special needs parents as well, how they have never had these same feelings.

Forget them. They’re liars. And perhaps convincing themselves that they would never is just their way of coping.

You will mourn for your child in the same way one might mourn a death. And you are mourning a death, if you think about it. The death of the hopes and dreams you had for your child. The death of the plan you had imagined for your family.

So go ahead and mourn that death. There is nothing unnatural or heartless or improper about it. It is part of the grieving process. It is necessary.

You will be bombarded with “God only gives special children to special people” and “This is God’s plan” from well-meaning people who think they’re doing you a service or simply don’t know what to say.

Grit your teeth and bear it. None of it’s true, so don’t worry. God hasn’t specially selected your child to suffer a lifetime of physical and emotional pain. He hasn’t chosen you out of many to live in agony on purpose. God isn’t that cruel.

You will see parents with “typical” children in the grocery store and at the park. You will see pregnant women smoking or drinking caffeinated beverages. You will see parents abusing their children, both verbally and physically. And you will hate each and every one of these people with all the darkness and malice your soul can muster, for how do they, with their carelessness and ungratefulness, get to escape your child’s and your living hell?

You are perfectly justified in having these feelings. But remember, it isn’t their fault. And while we’re talking about fault, it isn’t yours, either. So indulge in these emotions privately. Most importantly, don’t let them eat you up inside. They are perfectly natural but also potentially dangerous. Entertain them with caution.

Your child will grow and flourish and defy expectation. The cloud of depression and anxiety and despair in which you live will thin. You will feel better. Much better. Many of your initial fears will be allayed as your child comes into him/herself and his/her body. Some of those fears will remain, but they will not burn as hot in your heart.

Some may mistake your poise and grace and got-shit-togetherness as a sign that you’re “over it.” They may expect you to be just as social and able and willing and available as everyone else. After all, parenthood is hard for everyone, so what’s the big deal? What makes your life so much harder than theirs?

Just remember that they don’t know — can’t know — what it’s like to live your life. They don’t know just how many therapists and doctors your child must see, each with his or her own separate set of “homework” assignments to tackle. They don’t know that every play date is just another therapy session in disguise. They don’t know how much time and energy it takes to get one’s shit together every day. Their jobs are hard. But yours — yours is hard in a different sort of way.

The fact that your job is hard does NOT, however, make you a saint or a superwoman or a better parent. It simply makes you capable of doing what needs to be done, just like everybody else. What needs to be done for you and yours may take more time and energy. That’s the only difference between you and them.

Eventually, while you may still ponder the what-ifs on occasion, you will mostly be unable to imagine life any other way. You will be comfortable in your routine. You will be well.

So let me remind you, newly inducted special needs parent, that I see you. I see inside you at the storm that’s tearing your soul apart, bit by unimaginable bit. And I promise you, it will get better. It will be OK. You will be OK. Most importantly, your child will be OK.

And I know this because I am you. Not now you, of course, but future you.

Original article here.

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