Category Archives: DMD

Apr
17

Our Story

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”.

His liver enzyme’s were elevated, like 10 times the normal number. She said that his lactic acid was high as well. She said she wasn’t sure what that meant, but that I would need to do lots more testing to find out. She told me that I would have to get to the hospital to run some more tests and upon doing all of those, I was still left with no concrete information.

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.

Jackson- DMD Diagnosis

I made an appointment to get some more testing done-

Lab work- 9 various tests
Thoracic and lumbar spine MRI, he has to be sedated for this
abdominal flat plate x-ray
echo of his heart
When I got home that night after an exhausting day, all I could think of was this quote.
and I clung tightly to it.

Let your faith be bigger

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.

But the worse thing ever was about to smack me in the stomach with the news the doctor would give me.
He took a very quick exam of Jackson and mumbled some things and calmly said,

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

Just like that. As cold as stone.

Actually, I can’t even get across to you how cold he said it to me.
I had NO IDEA what that meant and as I scrambled to write those things down and asked him how to spell it.
I will never forget the sadness, the grief, and in that moment my stomach fell down to my knees and I couldn’t breathe right.
He told me to get a genetic test done and in 6 weeks I’d  know the answer.
and then he walked out.
He also said some rude comments, but I will not share them and will try to put them out of my memory.
I walked out, went to the car, tried desperately to hide my emotions from Jackson who was happy and had no idea what was going on.
But I failed.
I burst into tears and I just remember thinking, “I don’t understand”.
See, I hadn’t done ANY research and didn’t know a thing about what the doc was talking about.

 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.

I couldn’t catch my breath.
I was just sitting there shaking.
Then I ran to the bathroom and got terribly sick.
I shut my laptop, I was numb, I couldn’t sleep.
I went into Jackson’s room and just laid next to him, and cried.
I eventually went to my room and fell asleep, but I woke up at 3 am, got sick again, checked on Jackson, and then slept until 4am. Right then in the haze of waking up I thought this whole thing was a dream.
I thought to myself, “What a horrible dream” and then I realized it wasn’t a dream.
It all hit me like a ton of bricks, like I was literally getting the crap beaten out of me.
I couldn’t go back to sleep.
I just laid there…..numb.
I took him to school and came home and I just sobbed in bed.
I decided to get out of the house so I went to Costco, but it was no luck, I wandered around like a zombie and didn’t eat all day.
I just felt so empty.
I  just felt so hollow inside.
I didn’t know why this was happening.
Later that night the bishop from my church come over and give me and  Jackson blessings.
I really think it helped.
My heart felt calm.
People kept trying to reassure me that the test would come back negative, that doctors would be wrong- that it happens all the time, but I knew deep down that it wasn’t the case.
I could feel it, that he truly does have this disease, and that’s why I  broke down so badly.

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.

I couldn’t do laundry, I couldn’t clean the house, I didn’t make a meal, I didn’t wear makeup, I couldn’t watch tv.
I felt like a shell of a person,
i didn’t smile,
my heart hurt,
i cried so much.

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.


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