Wednesday, September 15, 2010

SMA Blog

What is SMA?
Spinal Muscular Atrophy to us is:
life changing
.the end.

Its sister disease SMARD is what took her life. Took our hopes and dreams. Our future. Our happiness. Our love and devotion. Our perfect. Our smiles. Our passion. Our family.

it began
july 18 2009
makenzie rye webster
pure bliss
unbelievable amounts of joy and love
our heaven

it ended December 13 2009

The words I want to say to you are not appropriate for this public post. The anger I feel is extreme. No only did you take her away. Not only did you crush our dreams. Not only did you change our lives forever- but- you also gave her pain, you made her hurt... How dare you! How could you? There are so many you effect. There are so many you hurt. Why? They are so young. So perfect. Why?
I could sit here and yell. I could scream. I could pound my fist. All Day.
 But what I'm going to do- is step back- knowing your going to be done. Knowing you are not going to win forever. You will be gone soon. There are people out there who are working day and night to find a cure. We are close. You wont get them all. We will live to see an end. You will be gone. Life will be good.
I hate you.
Love The Mother of an Angel.

The hell of SMARD
What is SMARD? Spinal Muscular Atrophy with Respiratory Distress (SMARD) is part of the Spinal Muscular Atrophy family of disease. It is a motor neuron disease, meaning there is progressive destruction of cells that control motor function, such as breathing and speaking. Cognitive function is unaffected. Like all motor neuron disease, there is no cure. It is an autosomal recessive disease, meaning in theory both Ryan and I carry the mutations that cause SMARD (this is as yet to be determined--we still need to be tested). Testing is done through blood work and was, until very recently, unavailable in the United States.

It usually takes up to 3 months to get any testing results back- Makenzie's blood was drawn on December 3rd and we got her results back December 31st (our amazing Doctor sped the process up for us.) Makenzie has a more unusual case- 2 different mutations.

How is it different from SMA? SMARD is caused by mutations on the IGHMBP2 gene, whereas 'regular' SMA is caused by mutations of the SMN gene. SMARD typically attacks breathing musculature first, and moves to other muscles, this is what happened with Makenzie. Every living child with SMARD is trached and ventilated--without the diaphragm these children cannot breathe.

SMARD is little understood and even less known. Since IGHMBP2 is such a 'newly' discovered gene, there is not a lot by way of information about SMARD (and what is available is scary or requires an MD to understand). As far as we are aware, there are only maybe 60 diagnosed cases in the world.
With SMA- roughly 1 in every 10,000 children are born with this disease.
With SMARD- roughly 1 in every 1,000,000 (if that) are born with this disease.
1 in 40 people are carriers of the SMA gene.
1 in 50,000 are carriers of the SMARD gene.
Please help! Vote. Donate. Help find an end. A cure.
Vote for the Gwendolyn Strong Foundation to win $20,000 for SMA research at every day in September through Jimmie Johnson’s Samsung Helmet of Hope contest. Simply cut and paste the below as part of your post:

PLEASE VOTE: It’s really this simple –
You can vote once EVERY DAY from now until September 29th at 5 PM EDT


The Mac's House said...

I'll be voting every day.

I can't imagine the anger, frustration, sadness, grief that your family has gone thru. My heart goes out to you.

The Johnson Crew said...

I joined the 'party'. I could not figure out the copy and pasted with the links so I sent my readers to your blog. I hope that is okay.
lots of love

Emma said...

What an honest look at SMA and SMARD. Thanks for sharing your heart once again. As you know I don't have a blog but I did post a note on won't reach as many people but every one helps! Love and hugs, Em

Shawna said...

Like Emma, I posted on Facebook. Just a short note, but letting people know where to get more information and where to vote. I hope it lets a few others know about this disease.

Shawna said...

I also posted some info on the BabyLegs forum to help more people become aware.

Alerie said...

My heart seriously breaks into a million pieces for you. I'm so sorry. Thank you for sharing this with us and helping me and others become aware. I don't have a blog or even facebook, but my sister does so I'm going to ask her to post something and then I'm going to send out an email. Together we will get that $20,000 to help cure this horrible disease. Much love!!

brigette said...

I did this on my blog today!! Im going to facebook it as well. Lots of love Kendra

Unikuu said...

I Am So Sorry for Your Loss, You Have My Deepest Sympathy.

Lisa said...

I also posted on my facebook page today---Your daughter was so, so, beautiful! An absolute doll! Please keep your heart full of the love you have for her--she was a lucky little girl to have such amazing parents. I admire your strength, courage and dedication--I do not know if I would/could be as strong as you if this were my story. I send you continued prayers, love and strength.
be well,

Lisa :)

Carrie G said...

I voted. I have a very dear friend who was my daughter's favorite teacher when she was 2/3 years old that her daughter was born with SMA. So this is very dear to my heart!!! Thanks for sharing your story and making a difference.

Petite Marie said...

Saw Samster Mommy's post today and voted. I can't imagine what it is you went through. And commend you for being so strong in doing your part to help others.
I've posted it on my blog too...
Good luck!

Jackie Koll said...

I posted this on my blog as well. I had written my own post last night to post today but when I saw yours, I changed it all and gave a link to your blog - your heart comes through and it says so much more than I ever could! And yes, I am voting!!! Thank you for making us aware of this great cause.

djjdjdjdjd said...

Saw your blog thru Samster Mommy. My heart aches for you and your family. My husband's mother passed away from Lou Gherig's Disease. Will be posting on facebook and linking back to my blog Fussy Monkey Business. Good luck!!!

Chad and Bree Fowles said...

I don't even know you and some home stumbled on this blog but tears literally started streaming when I saw your last picture. Though I didn't loose an Infant to death I did place one in a closed adoption and will NEVER forget that last embrace. My prayers are with your family and especially you as you continue on this painful journey they call "forward"

Candace said...

I have been voting. You are amazing. And Kenzie is so beautiful!

Leslie Garbanati said...

I voted...and will vote. Your story along with another friend who has lost a child and will lose another to SMA has touched my heart beyond anything. Thanks for sharing so much of your heart. You speak the words of so many of us that have lost a child feel. You are a strong, beautiful mother and lady.

jeanmarie. said...

found your blog through the samster mommy blog. my heart goes out to you. and my votes, of course!


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