Sunday, August 30, 2009

Lockdown and Germ Control

Boo. I wasn't planning on going on 'lockdown' until the end of September, but the flu has gotten a jump on me: people around here are already getting sick. So lockdown begins, and we hold our breath until May.

Honestly, we don't do a whole lot more during cold/flu season than we do any other time--the main difference is that Dakin doesn't go to church anymore, and I start worrying. More than I do during the summer.

So our germ control consists of a whole long list of rules mainly orchestrated by yours truly. Here they are, for your perusal or amusement:
  • NO ONE comes in the house who is sick or has a family member who is sick
  • Shoes off upon house entry
  • Germ-X immediately upon entering the house
  • Keys, phones and whatever else anyone is carrying gets wiped down or stored in the 'dirty box' until that person leaves
  • If you or anyone in your house is sick you may not enter until the victim has been fever free for 24 hours or on antibiotics for 24 hours
  • If we leave the house, we change clothes upon re-entry
  • Therapists must change clothes unless we are the first stop of the day
  • People coming in are kept to an absolute minimum

And for cold/flu season we keep Dakin's outings to a smaller number, only going places where there are few people at specific times. We will go some places--obviously, doctor's visits. We will also be doing some holiday stuff, depending on how bad the flu gets around here. Sigh...I was hoping the summer would last a little longer...we do have one more special outing planned for tomorrow. One last summer hurrah before the worry really begins...

Friday, August 28, 2009

Unite for the Cure

This August has seen the launch of Unite for the Cure, a group designed to help SMA families to come together to raise money for a possible cure for SMA. Yes, I said CURE. The long and the short of it is Dr. Hans Keirstead at UC Irvine is heading a stem cell treatment program. This program, currently being tested on spinal cord injuries, has the potential to cure SMA (and by extension, I hope, SMARD). The plan is to start testing in SMA-affected children in early 2010, but they need funding. So Unite for the Cure was launched. Go check out the website, and please donate. I am racking my brain for fundraising ideas myself, and might have something in the works...don't know yet. But at any rate, please donate. This is a potential CURE.

Below is the info page from the Unite for the Cure website--I just copied and pasted it, since I certainly can't sum it up better.

Stem Cell Program
Quick Facts

  • The SMA stem cell program is headed by Dr. Hans Keirstead, Co-Director at the Sue and Bill Gross Stem Cell Center at UC Irvine
  • The SMA program has been in process for five years and is a collaboration between Families of SMA, UC Irvine, California Stem Cell, and Johns Hopkins University
  • While this program will initially focus on SMA to prove the science, the treatment has the potential for dramatic breakthroughs for ALS/Lou Gehrig’s, acute spinal cord injuries, and many other conditions

  • Dr. Keirstead has already been credited with successfully developing a stem cell derived treatment for acute spinal cord injuries; this program is currently in human clinical trials - the 1st ever stem cell trial approved in the United States

  • For SMA, Dr. Keirstead has perfected a process that replaces lost motor neurons that characterize SMA with high purity human motor neurons derived from human embryonic stem cells

  • All of the pre-clinical efficacy studies, including the pivotal animal safety studies, have been completed, demonstrating that the cells work
  • They are now targeting a Phase I clinical trial in humans to begin in early 2010 with later phases to begin shortly thereafter

Slightly More Detail
The motor neuron replacement stem cell program is headed by Dr. Hans Keirstead, Co-Director of the Sue and Bill Gross Stem Cell Research Center at UC Irvine. In short, this therapy has the potential to cure Spinal Muscular Atrophy (SMA), ALS/Lou Gehrig’s Disease, and acute spinal cord injuries by replacing the lost motor neurons that characterize these conditions with high purity human motor neurons derived from human embryonic stem cells; a process that Dr. Keirstead’s team has perfected. The program has been in process for five years and is a collaboration between Families of SMA, UC Irvine, California Stem Cell, and Johns Hopkins University.
While the motor neuron replacement program and the accomplishments of Dr. Keirstead’s team with respect to this specific program stand on their own as groundbreaking research discoveries, it is important to note that Dr. Keirstead is no stranger to the stem cell world or pioneering research. In 2004, Dr. Keirstead led his team of researchers at UC Irvine to successfully develop a human embryonic stem cell derived treatment for acute spinal cord injuries. That treatment was approved by the FDA in January 2009 for clinical trials in humans. This spinal cord injury trial, which is currently in process and is being carried out by Geron Corporation, marks the first ever human embryonic stem cell trial approved in the United States. The motor neuron replacement therapy that will initially focus on SMA will most likely be the second — ever!
Dr. Keirstead’s SMA stem cell program is currently at a critical and exciting juncture. All of the pre-clinical efficacy studies, including the pivotal animal safety studies, have been completed, demonstrating that the cells work and that the motor neuron replacement should be a safe strategy in the treatment of diseases, such as SMA, characterized by motor neuron loss. Dr. Keirstead and his team are now preparing for a pre-IND meeting with the FDA in late 2009 with a targeted Phase I clinical trial in humans to begin in early 2010. Phase I will initially focus on babies under the age of 12 months with SMA Type I, with other SMA Types and older Type I’s planned for later phases of the study.
Click here to read more about the utility of stem cell therapy in treating SMA.

Monday, August 24, 2009

Little Things

So I, like most parents, never anticipated raising a child with special needs. Never planned on missing a first step, or a crawl. It never occurred to me that one say I would have to, on a daily basis, fight to keep my child alive. I had the same visions as most everybody else: taking my little one to the park, or chasing him through the mall.

Well, fate stepped in and changed things. Obviously, I live a different life now, a life that has taught me to stop and appreciate little things.

I've really been pondering those little things lately. Every single day I see a miracle or two, in the form of a little boy defying a deadly disease. Every day he does something that amazes me: he eats all of his food (a serious miracle in itself), or he will move in a way I didn't think he was capable of. I joy in watching him trying to pat along with "Little Einsteins." The other day I was as proud as any mom watching a first step when I helped Dakin hold his arm up (while sitting up!!) and he fed himself a Pringle. I am amazed as I watch him discovering how to use the muscular ability he does have to manipulate objects. In the midst of complaining about Dakin developing a two-year-old attitude, I am secretly joying in it. And I get to see this stuff EVERY DAY. All things that, had he been a neurotypical child, I might have overlooked.
I am so grateful to him for teaching me the beauty of little things. I am so fortunate to get to be his mom.

Saturday, August 22, 2009

Look What I Found

After having been inspired by this post from Gwendolyn's family, I went in search of a Special Needs-accessible park. And guess what: yes, even in East Texas, we have one. Not a huge one, mind you, but it had SWINGS! Dakin really enjoyed it, and we will be going back!

This park was helped into reality by Neil McCoy, a country artist who lives in Longview. I went looking for the website about the park but of course can't find it, but Neil is a wonderful force for good in East Texas. He makes dreams come true--he certainly did for us with these swings. Look at how big and comfy they are! Dakin doesn't have to worry about holding himself up in them. He doesn't look it (the sun was in his eyes) but he enjoyed swinging very much!

Friday, August 21, 2009

SMA Awareness Month: Maddison, SMARD1

Meet Maddison, a sweet girl in England with SMARD. This story is from the website

Poorly Maddison Enjoyed a Happy First Birthday

HOLDING her birthday card with a big smile on her face, Maddison Sherwood looks extremely happy for a little girl who is so poorly.
Born with a rare genetic condition, she has spent most of her life in hospital.
This week, she celebrated her first birthday at the Queen's Medical Centre – and her parents Lidia and Jamie hope she could be home by the end of November.
"We are very proud of her," said Mrs Sherwood. "She doesn't seem like a sick child. She's really happy considering what she's got.
Maddison's condition – called Spinal Muscular Atrophy with Respiratory Distress (SMARD) – means that even catching a common cold could be life-threatening.

Between one in 100,000 and one in 200,000 babies are thought to be born with the condition, which causes muscle to waste away.
"She gets chest infections really easily because she's got a weak cough," explained Mrs Sherwood.
"You need muscles to cough – that's why it's life-threatening because she can't cough, so the secretions sit on her lungs."
Maddison has been in intensive care four times and will never be able to breathe on her own. She was born with club foot, where the feet are twisted towards each other, which is thought to be a symptom of SMARD.
Maddison was only diagnosed after she kept getting chest infections. An X-ray also showed she needed an operation on her diaphragm, which is paralysed.
"She has only been at home for three weeks," said Mrs Sherwood.
Each child of carrier parents has a one in four chance of being affected. They had no idea they were both carriers of the gene until Maddison was diagnosed.
Maddison's sister, Lacey, seven, and brothers, Harley, four, and Jayden, two, will also need to be tested to see if they are carriers.
Before Maddison can come out of hospital, her home in East Leake needs to be adapted so she can live downstairs, and she will need 24-hour care.
Maddison's parents hope she will be able to attend a normal school.
"Her hands and feet are weak at the moment. As she gets bigger it's going to be hard to look after her, so we will see."
August is Spinal Muscular Atrophy Awareness Month and Mrs Sherwood wants to raise awareness of all types of the condition.
There is no cure for SMARD, but research is being done into stem cell replacement.
"The hospital has been brilliant," added Mrs Sherwood. "They've never had a child with it and they've always been one step ahead, so if it weren't for them she wouldn't be here today."
A spokesperson for The Jennifer Trust, which supports people with the condition, said: "Many babies born with Smard don't survive very long, whereas Maddison seems to be doing well."
On August 16, a fund-raising event called Maddison's Sunday Fun Day is being held at The Three Horseshoes pub, Main Street, East Leake. It starts at 2pm. Money raised will be used to help the family make the adaptations to their home.


Wednesday, August 19, 2009

SMARD--A Brief Tutorial

I am frequently asked about SMARD, and the questions are usually along one of two lines: 1. What is it? and 2., How is it different from 'regular' SMA? If you've been wondering, you're in luck! Here you go!

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 my husband 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 bloodwork and was, until very recently, unavailable in the United States. Dakin's work was sent to England. Initial testing took 3 months and the final, definitive test was not completed until a YEAR after the blood was submitted, though his is a less usual case--he has two 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 (from what I have seen) attacks breathing musculature first, and moves to other muscle sets--we saw this with Dakin--he one day could no longer breathe because his diaphragm no longer worked as it needed to. There was no other sign of muscular weakness until long after his inital 'crash' event. Every living child with SMARD that we know of 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, and we have only been able to contact 5 other families.

We have a few projects in the works to raise awareness of SMARD. We have been working with FightSMA about a SMARD info page on their website, and we have approached Families of SMA with the same request. We also have a Facebook site, started by another parent, to help raise awareness. There are additional plans in the works...more info to come later!!

So there you go. SMARD 101.

Monday, August 17, 2009

SMA Awareness Month: Andy

As promised, here is the story of one little warrior who is no longer fighting his battle with SMA. I just recently met Andy's mom, Audra, and am so impressed by her strength. She refuses to lie down and accept the disease that took her son: she is fighting to help eradicate it. Thanks, Audra, for sharing Andy's story.

Andrew Glenn Butler
January 8 – June 4, 2009

On January 8, 2009, my husband and I welcomed our firstborn son, Andrew Glenn Butler, into the world. A beautiful baby boy that we called “Andy” with thick brown hair and bright blue eyes, he was the best thing that ever happened to us. After 10 years of marriage, our family finally was complete.

At the time of his birth, we thought that Andy was a healthy, thriving baby boy. He kicked, punched and cried like any other newborn for the first month of his life. However, when he was just weeks old, we noticed that his movements were getting weaker, instead of stronger.

We took him to our pediatrician on March 3, 2009, who immediately admitted Andy to the ICU of University Community Hospital in Tampa. Initially, he was diagnosed as having hypotonia, which is the lack of muscle tone and movement in his limbs, as well as having fluid in his lungs. Andy underwent a battery of invasive, diagnostic tests to determine the cause of these symptoms. We were slowly beginning to realize that something was terribly wrong with our baby.

The doctors said that their working diagnosis was spinal muscular atrophy (SMA). They believed that Andy had the most severe form of the disease, type 1, also called Werdnig-Hoffmann Disease. We immediately searched the Internet for this disease and found that SMA was the number one genetic killer of children under the age of two. It was every parent’s worst nightmare.

SMA is a neuromuscular disease characterized by gradual muscle weakness due to loss of motor neurons of the brainstem and spinal cord. As the disease progresses, the affected child’s muscles lose tone, movement is very limited and breathing is impaired. With no treatment or cure for SMA, the child’s lungs will give way or pneumonia will set in, resulting in death.

Because SMA is an autosomal recessive disease, it means that both parents must be a carrier of the gene responsible for the disease, and these mutated genes must be passed onto their child. We had no idea, like the nine million other Americans who unknowingly carry this gene, that we had a one in four chance of having an SMA-affected child or that with one simple blood test we could have known about it.

We turned off the computer in shock. We cried as we counted all of the symptoms of this insidious disease that Andy already was showing – lack of movement, floppy arms and legs, no neck strength, feeding issues. How was this happening to us? How could we suddenly go from having a thriving baby to one on the brink of death? How had we never heard of this disease?

On March 17, 2009, our worst case scenario became our reality when our son’s diagnosis of SMA Type 1 was confirmed. Andy was just nine weeks old. His doctors told us that we would be lucky if he lived for another six months. They didn’t think he would see his first birthday.

Although we were heartbroken, we pushed our feelings of loss aside and committed ourselves to celebrating each day of his life. We showered him with love and affection. We danced with him and sang to him every day. We adapted toys so he could play with them, no matter how weak he would get. And, we had birthday parties for him every month, because each month we feared he wouldn’t be there for the next.

In the weeks following his diagnosis, we had countless doctor’s visits and therapy sessions. Andy was put on several medications to help reduce his reflux and to promote his muscle strength. But, with no real treatment protocol available, the disease still caused his muscles to weaken a little more each day, eventually impacting his ability to suck, swallow and breathe. He could not hold his head up or sit unassisted. He could not move his hips, legs or shoulders. His symptoms were progressing very quickly, no matter what we did to try to slow them. We were helplessly watching our child die.

But, through it all, Andy still laughed and smiled. He was a cognitively advanced baby with an attentive look in his eyes and an unbelievably long attention span. No matter how weak he was, he still cooed along with music and enjoyed watching Baby Einstein videos. A cuddler, he loved to be held and rocked. He even learned to give kisses. That he was such a happy baby kept us going as we continued our fight against his SMA.

Between March and June 2009, Andy was hospitalized four more times at All Children’s Hospital in St. Petersburg for respiratory and gastro-intestinal issues, including one surgery and another stay in the ICU. And, it was in the hospital on June 4, 2009, that Andy lost his battle with this insidious disease. He was just 20 weeks old.

Andy was physically weak, but he was strong in spirit. He was the bravest person my husband and I have ever known. He taught us to smile in the face of grief and proved the power of laughter. He made us realize how important it is not to take time or family for granted. He renewed our faith, because we have to believe that there is a greater plan for our family.

And, with his passing, Andy gave us a mission. We will do everything we can to prevent another family from going through this horror. With the support of our friends and family, we are committed to sharing Andy’s story and spreading awareness about this terrible disease. We created “Andy’s Army” on Facebook to share information about SMA and how people can help stop it. Although there is currently no treatment or cure for this disease, researchers have isolated the gene that causes it and, with proper funding, a cure can be found.

We hope you’ll join support our cause by joining Andy’s Army on Facebook at and by signing the online petition to cure SMA at Now is the time to spread the word about SMA - in memory of our son and to save other babies like him.

--Audra Butler, Andy’s Mom

Wednesday, August 12, 2009

Need Your Help!!

Hi all! I have been looking forward to this! I have been working with 3 amazing women on what I am calling "The Oprah Offensive". Oprah Winfrey has a HUGE audience, and we are hoping to get SMA on the show to raise awareness. We are asking everyone to help with this, even if you are not an SMA family--if one of these little ones has touched your heart, please please help with this. Instructions follow (thanks Victoria for the write up!!)

SMA on Oprah!!! We need YOUR story!!!

Hi SMA Families: We are all working hard to raise awareness of SMA and what better way to reach the masses than on the Oprah Winfrey Show. We know many of you have contacted her in the past and we know this is a long shot, but we hope that through a collaborative effort and a little PR work, we may be able to garner some much needed attention. So, we want your story about SMA. The plan is to restuff every letter in matching brightly colored envelopes and then send all the letters in one big package.

Here is what we are asking:1) Write your letter. Your letter should be highly personal, about your experience, your child, your thoughts and why SMA should be on the Oprah Winfrey Show. Each family is welcome to submit more than one letter, but they should each be written by a different person in the family and individually written (for example, mother, father and grandmother are welcome to each submit a letter, but again they should all be individually and personally written).

2) Please keep letters to ONE page. (We know this is difficult, but a MUST per PR advice!)3) Include pictures, links to your personal blogs, decorate your letter in any way you want.4) Mail letters NO LATER than September 5th to:

Devon Lovelace
PO BOX 1611
Gladewater, TX 75647

5) Letters will be restuffed and sent out on September 15th. If you have any questions, please contact either Audra Butler, Devon Lovelace, Donna Trakas or Victoria Strong.

We are looking forward to receiving your letter and thank you for all of your hard work,

Audra, Devon, Donna, & Victoria


Monday, August 10, 2009

SMA Awareness Month: Tweet for a Cure!!

This is from Gwendolyn's blog--her parents worked up this perfect way to promote the SMA Treatment Acceleration Act. Tweet away! This is awesome!!
(I copied and pasted their entry).

Tweet For A Cure: 4 simple steps
Today, we launched a new EXTREMELY simple way for you to let your Congresspeople know that the "SMA Treatment Act of 2009" is legislation that is important to pay attention to. "Tweet For A Cure" allows you to automatically Tweet a message to your Representatives and friends based on your ZIP code. Four simple steps. 1-2-3-4...Here's how:
  • Go to
  • Enter your ZIP code
  • Enter your Twitter username and password
  • Click "Tweet"That's it!Make sure to let your friends know about how easy it was to use to sound off to your Congresspeople by Tweeting about it, blogging about it, posting it to your Facebook status, emailing it, etc.Special thanks must go to our dear friend Josh Lippiner for helping us on this project. It wouldn't be possible without him. Thanks Josh!

Friday, August 7, 2009

SMA Awareness Month: Candle Lighting/Photo Friday

This Saturday at 8 p.m. SMA families and friends will light a candle in remembrance of those who have been lost to SMA. Take a few minutes on Satuday to honor them.

In the midst of such a heavy subject, I thought it might be good to add in a bit of levity in the form of Dakin. Look at this big ol' toothy grin.

Monday, August 3, 2009

Video: Petition to Cure SMA

This video was created to help promote the Petition to Cure SMA . Words would detract from its beauty, so I won't say much, but please pass it on--Facebook, Twitter, whatever. Help cure this disease--cure is so close.

Saturday, August 1, 2009

SMA Awareness Month

Welcome to SMA (Spinal Muscular Atrophy) Awareness Month. On the Daily Dakin, the whole of August will be dedicated to sharing info about SMA, SMARD, research and the families affected by this horrible disease. We will also be having a GIVEAWAY to help raise awareness. More to come on that.

For starters, here are a few facts about SMA.

  • SMA is the leading genetic killer of children under 2.
  • One in 40 people carry the gene that causes SMA.
  • One in 6,000 to one in 10,000 live births are affected by SMA.
  • There are 6 types of SMA—Type 1, Type 2, Type 3 and Type 4 (adult onset SMA) are all caused by mutations/deletions of the SMN gene. 5qSMA is a newly discovered form that I will see if I can get more research on (I learned about it from our neurologist). SMARD (Spinal Muscular Atrophy with Respiratory Distress--what Dakin suffers from) is extremely rare and is caused by genetic defects on the IGHMBP2 gene.
  • There is very promising research on the horizon to treat and possibly cure SMA—drug trials are underway and stem cell research is extremely promising. Passage of the SMA Treatment Acceleration Act will help to bring a treatment and/or cure for SMA. If you have not, please sign the petition at
  • There is no one in the United States researching SMARD, and no drug trials currently underway that may help Dakin. It is for this reason that we are advocating passage of the SMA Treatment Acceleration Act—SMA research has benefited other neuromuscular diseases, and our hope is that if SMA can be cured, perhaps SMARD can be as well.

    This month I hope to raise awareness of SMA. I hope that these children, their families and their stories will change you. I hope that their strength will sustain and inspire you. Though I truly wish it were under different circumstances, I am privileged to interact on a daily basis with people who have such inner strength and determination; people who have helped me with my burdens while carrying their own. People who, despite in many cases being told to take their child home and “just love them,” continue to fight. So many would just crumble under that sort of load. These parents do not. They are my inspirations. I am proud to call them friends, and truly awed to follow their children.