You prepare yourself to fight. You dig in, past the initial denial and disbelief, and gather your army of family and friends around you. You set up the barricades around your child, your house, your life. Your battle plan is simple; you will stand between your child and the threat that is SMA. You will do whatever you can to defeat it. Damn the odds, SMA will not win. Not this time. Not your baby.

And so the fight begins. And, almost at once, you realize the combat zone covers far more territory than you ever imagined.

You fight to become an expert on this disease that no one has ever heard of, but impacts so many. You fight to find the protocols and the guidance to help your child grow and thrive, despite the devastating statistics. You fight to prove those statistics wrong.

You fight to find treatments that might help your child survive. And then you fight your insurance company as they deny those machines, that therapy, and that equipment your child so desperately needs.

You fight for referrals to specialists, whom you hope will bring support and solutions for your child. Then you fight those specialists to listen to you, when they instead point to the hopelessness of the diagnosis and the limits of medical science. And so you fight for the research that will put those limits to the test.

You are frustrated and exhausted, but you don’t give up. You never give up. There is no white flag to wave, and there is no room for retreat. You are fighting for your child’s life. You stand your ground and battle on.

You fight to raise SMA awareness everywhere you go, safeguarding your child against pitying eyes and callous remarks. Your smart, beautiful, amazing child is so much more than this disease, and you fight for people to understand that. Unfair judgments and uneducated opinions be damned.

You fight to create a world where accessibility is the rule, not the exception, and where your child has the same opportunities – to learn, to love, to live – as any other child. Where your child can experience anything they dream.

You fight for inclusion and acceptance, which you find in the SMA community. There, you connect with a group of people who are as passionate as you are. You learn from them, and you are inspired by them.

(But, truth be told, heightened passions often leads to conflict, and sometimes you fight them too. Call it friendly fire.)

Still, you keep fighting, lashing out at SMA, because that’s all you can do. You fight to bring order to the chaos. You fight to make the impossible possible. You fight for a cure.

You fight for every breath your child takes. And, you fight to calm the panic in the milliseconds in between. You fight to make it to the next day, because you know that tomorrow isn’t a certainty for anyone.

You fight to keep your child healthy with hand sanitizer as your weapon of choice. But illness can wage war from the inside too. This battle has more than one front. SMA is a wily opponent.

You fight for sleep, as sometimes imagined and often real alarms reverberate through your mind. You fight for comfort, as you reposition your child in their bed, again and again, until they can rest.

You fight to keep the fear at bay. Even on good days, you worry that SMA is hiding in the shadows, posed to attack. You fight so you child never feels your stress or shares your anxiety. So they never know your sadness.

You fight the uncertainty that accompanies every choice you make for your child. You let your child lead the way through the trenches, even when it gets hard and you’re terrified of the consequences. You marshal all of the strength you’ve got. If only you were as strong as your child.

You fight through the hopelessness to find hope. You have embraced this fight as part of you, part of the honor of having a child, and you’re prepared to fight forever. Optimism is a medal on your chest. Hope is your armor.

You experience victories, some little and some profound. You take nothing for granted. And you realize how much beauty there is in life’s every day details, which are so often rushed and overlooked. How much meaning is conveyed by quick glance from your child or a light tap of their finger. How much love surrounds your family, lifting you up and propelling you to take another step. Your fight is no longer a desperate rally, but a slow and deliberate march forward.

But SMA is unscrupulous, changing the rules of engagement as it progresses. Redrawing the battle lines. Drawing you off-guard and leaving your child defenseless.

And, as suddenly as it started, the fight is over. Your child is gone.

You pray that the end came on their terms. Not an ambush, but a peaceful surrender or one last heroic charge. That there was no pain, only glory in its place.

You are left behind, battle-scared and broken in a world bombed by grief. The army that once surrounded you disbands. Landmines – guilt, fear, anxiety, and even memory – threaten you as you try to make your way to a safe place. But, without your child, nowhere is safe.

You wonder what all of that fighting was for? How could SMA win?

The space your child left is too big to ever fill. Your house is too quiet without the whir of the machines. It’s too still without the daily exertion of caregiving. It’s too empty without the fight. Too painful. Too lonely. Too sad.

But it’s not without the love that you still carry with you. It’s not pointless. You won’t allow it to be. You want your child to be proud of you. You want your child to be remembered. You want their legacy to live on long after you are gone too.

The enemy is still out there. The battle may be lost but the war is far from over.

So you begin to fight once more.

***

August is SMA Awareness Month. Please join our fight against SMA.

And here we are with all of the incredible award nominees and recipients.

We are so honored to be part of this impressive group of people and to be recognized for our work to continue Andy’s legacy.

–Audra Perry Butler

Lucy reached up to stroke my tear-stained cheek and said, “What’s wrong, Mommy?”

I replied, “I just wish Andy was here with us, baby.”

She said, “But, Mommy, Andy’s right outside.”

“He is?” I asked.

“Yes,” she said, as she gestured to our back yard. “He’s out there with the dragonflies.”

This summer, the dragonflies seem to be out in abundance. To me and my family, they are signs from Andy that he is always and forever with us. I hope that, when you see a dragonfly gliding through the summer air, you’ll remember Andy too. More than that, I hope that you want to do something to help us stop the disease that took our son from our arms. Since August is Spinal Muscular Atrophy (SMA) Awareness Month, this is the perfect time to take action.

Starting August 1, we’ll be sharing pictures of Andy, stories about his life, and facts about SMA every day on the Andy’s Army Facebook page. We hope you’ll like the page and help us by sharing its message to spread awareness. Here are some other simple things you can do this August:

• Tell someone you love about SMA.
• Attend one of the many events being held this month by a number of great SMA-related organizations. (You can get details about some of the events in which Andy’s Army will be participating at http://andysarmy.com/what-you-can-do.)
• Reach out to a family affected by SMA with a kind word.
• E-mail a fact about SMA to your family or friends.
• Pin an SMA-related item on Pinterest.
• Share an SMA statistic on Twitter.
• Ask your OB-GYN to offer SMA carrier testing.

Thank you, this August and always, for helping us continue Andy’s legacy and for being part of his army in the fight against SMA.

–Audra Perry Butler

We scoured our family history on all sides, looking for other incidences of SMA and only finding dead ends. We understood that SMA is an autosomal recessive disease, which means that two copies of the abnormal gene must be present in order for the disease to develop. We knew that this insidious SMA-causing gene was hiding in the DNA of our family, secretly passed down from carrier to carrier and from generation to generation. And, we were on a quest to find it.

So, my husband and I began talking to our relatives on every side of the family – sisters, brothers, nieces, nephews, cousins, aunts, and uncles – about the importance of SMA carrier testing. We wanted to spread awareness about SMA and, hopefully, stop our loved ones from having to experience it for themselves.

While the great majority of our family members understood why we were asking them to consider testing, in some unfortunate cases, our efforts were met with skepticism, indifference, or even rejection. And, as disheartening as these reactions were to us, they are not entirely unreasonable. All of this talk of genetics can be confusing, statistics can be misleading, and denial is a strong emotion. No one wants to be a carrier of SMA. No one wants to believe that SMA could impact their children. It’s easier to think that someone else or some other branch of the family tree is to blame for this errant gene. If the odds are that one in every 40 people is a carrier – and my husband and I were definitely carriers – then they couldn’t be too, right? It happened to us, so they were safe, right?

But, here’s the problem – that’s not how the statistics really work. Those statements are just not true.

While the carrier rate for SMA in the general population, crossing all ethnicities, is one in 40 people, carrier rates for specific ethnicities vary. For Caucasians, like our family, the carrier rate is higher than average. Even more important, when an SMA-affected person is one of your relatives, the carrier rate rises exponentially.

Here are the actual statistics if your family has a history of SMA:

• If your brother or sister has SMA, you have a 2 in 3 chance of being a carrier.
• If your niece or nephew has SMA, you have a 1 in 2 chance of being a carrier.
• If you have an aunt or uncle with SMA, you have a 1 in 3 chance of being a carrier.
• If your cousin has SMA, you have a 1 in 4 chance of being a carrier.

(Statistics from the Jadon’s Hope Foundation)

Our family’s test results prove these real-world statistics. In the four years since Andy was diagnosed with SMA, 12 family members, including aunts, uncles, cousins, nieces, nephews, parents, and siblings, have undergone carrier testing. Of those 12, eight are proven carriers, two are non-carriers, and two had inconclusive results (but at least one of them is an assumed carrier). That means that at least two out of every three blood relatives tested were, in fact, carriers of SMA.

And, as we delved further into testing, we learned even more about just how prevalent the disease really is.

In 2011, our immediate family underwent a linkage study to try to determine how the SMA-causing gene traveled to Andy. (You can read more about that study here.) While the study confirmed my husband’s and my carrier statuses and clarified how the gene was passed down on my husband’s side of the family, the test results for my parents were inconclusive. It was assumed that at least one of my parents was a carrier – since someone had to pass the defective gene to me – but we didn’t know who it was or where the gene came from.

Again, we moved forward, telling both my mother and father’s sides of the family to get SMA carrier testing if they planned to have children. As a result, we have found carriers on BOTH sides, surprising many of my family members. This shows, once again, that SMA is more common – and more elusive – than you think. And, how you interpret the results of carrier testing is critically important as well. Consider this:

Had my mother been ruled out during the linkage study as a carrier, would the relatives on her side of the family have asked for testing? My guess is that they would have felt spared from the risk of SMA, so why seek testing for it? And, they never would have learned that they, in fact, were carriers too.

The same can be said for my father. Had his carrier test come back negative for SMA, would his side of the family elected for testing? Most likely not. Again, blinded by a sense of false security, another carrier potentially would have gone unidentified.

Or, it may be that both my mother and my father are carriers, and I am lucky to not have the disease myself. With doctors and insurance companies telling us that there is “no medical necessity” for further testing for my parents, we may never know.

While it is frustrating that we can’t trace where the gene originated, it really doesn’t matter – the bottom line remains the same. The gene is here now, and the danger of SMA occurring again is real.

And, for all of the questions that carrier testing has raised, it also has provided some very meaningful answers. We now have confirmed that the disease can be found in all branches of our family. We have been astonished by the amount of carriers identified so far and know how vital testing for other relatives is. Most importantly, we now have more knowledge about SMA for future generations of our family – knowledge which is critical in preventing another loss to the disease.

So, what’s the moral of this story? If you know that you are related to someone with SMA and you plan to have children, please elect for carrier testing prior to pregnancy. Even if you believe that the gene is on a different side of your family, if you’ve already had healthy children, or if there’s no way you could be a carrier – you might be surprised. I know my family was.

I’m very proud of those who have been tested for facing the reality of SMA. I know how scary it is to find out that you are a carrier of such a horrific disease. But, I also know how much more devastating it is to lose a child to it.

For more information on SMA carrier testing, please visit these links:

• Counsyl (saliva test): http://counsyl.com/
• Athena Diagnostics (blood test): http://www.athenasmaawareness.com
• LabCorp (blood test): http://www.labcorp.com
• Claire Altman Heine Foundation: http://www.clairealtmanheinefoundation.org/index.as
• UMass Lab Updates Newsletter (a very scientific explanation of SMA carrier testing results is on pages 3 and 4): http://www.umassmemoriallabs.org/assets/lab%20updates%20dec%202011.pdf

— Audra Butler

So, what CAN you do? First tell someone about SMA. Watch this video. Share Andy’s story. Ask your OB-GYN to offer SMA carrier testing. Post a fact about SMA to your Facebook page or Twitter account. Attend one of the many events being held this month by a number of great organizations. (You can get details about some of the events in which Andy’s Army will be participating at http://andysarmy.com/what-you-can-do.)

Now, what WILL you do to help raise SMA awareness?

Through Facebook, Twitter, special events, proclamations, blogs and the media, we are working together in a global, grassroots effort to spread the word that, with no treatment or cure, SMA is the #1 GENETIC KILLER of children under the age of two. That, worldwide, a child is born with this inherited disease roughly EVERY HALF HOUR. That the SMA-causing gene is unknowingly carried by nearly 10 MILLION AMERICANS. That, the more closely you are related to a person with SMA, the higher the chance is that YOU might be a carrier of that gene too.

You may have seen this information before. It’s here on this website and on others like it. That’s why I want you to be aware of MORE than just statistics.  I want you to understand the real impact of this disease and why the SMA community is fighting so passionately.

Please take a moment to consider the following:

• How you would react if a doctor told you that your nine week old son would die from SMA within six months and that there was nothing you could do to save him? Imagine begging for help, being refused certain equipment, and getting the advice to simply “go home and love him.”

• How you would handle the feelings of frustration and isolation if your family and friends did not take the threat of this genetic disease seriously? How would you communicate that you are not the only carrier and that your child is not the only one who will ever be diagnosed with SMA? That, by asking them to get tested, you are not trying to scare them, but to protect them.

• What would happen if you had to quit your job to stay at home to care for your medically fragile son, even though you couldn’t afford to lose your income? Knowing that, if your child was hospitalized again, you simply wouldn’t be able to afford the bills.

• How you would respond if a stranger pointed to your daughter while you were at the store, asking “What is wrong with her?” And, you knew that, even though your child couldn’t talk or move, she understood that she is not the same as others and that she is unfairly judged for it.

• Where would you find the energy, after staying up all night with your ailing son, to fight with your insurance provider, doctors, and hospital administrators when they denied the care he so desperately needed to survive?

• What you would say if you had to explain to your three year old daughter, with tears streaming down her face, why she would never be able to walk?

• What you would do if your infant son died in your arms?  Could you survive the devastation?

Then consider the strength that every single person diagnosed with SMA shows by loving, laughing and living, in spite of the disease.  Are you as strong as they are?

I know that I’m asking you to think about the unthinkable. It’s uncomfortable. It’s upsetting. And, for me and everyone in the SMA community, it is very real. The situations listed above have actually happened to me or to people I know. And, they continue to happen every day.

For most families affected by this horrific disease, the acronym SMA meant nothing to us before our children were diagnosed with it. In the vast majority of cases, there was NO family history of the disease, and we were NOT offered carrier testing. We were blindsided by a diagnosis of SMA. We are now working to spread awareness to change that for you and your family.

We want you to have the power of knowledge. We want you to ask your doctor for a carrier test, even if it isn’t offered automatically.  We want you to avoid being a statistic like us. We want you to be prepared. We want your children to be healthy.  And, in return, we want you to help us continue the legacies of those we have lost to the disease, like my son Andy, and to keep hope alive for those still fighting.

Only through true awareness will we find a cure. Please tell someone you love about this disease today. Repost or retweet an SMA fact. Wear an SMA awareness ribbon. Do something to show that you care. If not for Andy, do it for the next child who will be diagnosed within this half-hour.

This logo was designed for SMA Awareness Month by our friend MJ

–Audra Butler

• Monday, August 8, 2011 - Applebee’s Dining to Donate Night, 5:00 p.m. to 9:00 p.m., 15090 N. Dale Mabry Highway, Tampa, FL. Present your server with our “Dining to Donate” Flyer (click the link to download a PDF copy of the flyer) and 10% of your bill (excluding tax and tip) will be donated to the Greater Florida chapter of FSMA! You can also click here for more details on the chapter’s Facebook event page.

• Saturday, August 13, 2011 – Candlelight Memorial Event to Honor SMA Angels, 7:30 p.m. to 9:00 p.m., Sunset Beach, 214 Shore Drive, Tarpon Springs, FL. Join our family as we light candles to remember Andy and his angel friends. Click here for more information on the chapter’s Facebook event page.
  

• Monday, August 15, 2011 – Applebee’s Dining to Donate Night, 5:00 p.m. to 9:00 p.m., 1905 S.R. 60 E., Valrico, FL. Click on this link for more information via Facebook and to download the event flyer.  Present your server with the flyer and 10% of your bill (excluding tax and tip) will be donated to the Greater Florida chapter of FSMA!
  

• Wednesday, August 17, 2011- Give Back Night at Chili’s Grill and Bar at Parkside, 5:00 p.m. to 9:00 p.m., 7250 US 19, Pinellas Park, FL. Click on this link for more information via Facebook and to download the event flyer. Present your server with the flyer and a percentage your total bill (excluding tax and tip) will be donated to the Greater Florida chapter of FSMA!

• Tuesday, August 23, 2011- FSMA is the “Community Corner” charity for the Tampa Bay Rays/Detroit Lions game at Tropicana Field, St. Petersburg, FL. 

As more events are scheduled, we will update this post. You also can check the Greater Florida FSMA chapter’s website at www.fsma.org/greaterflorida. Thank you for all of your support as we fight for a cure. Together, we will END SMA!

Love,
The Butler Family – Alan, Audra, Lucy and our Angel Andy

Our goal is for our team to exceed 75 members. If you’d like to join “Andy’s Army” at the walk, you can register online today at http://www.fsma.org/LWC/AndysArmy.

If you are unable to make it to the event, please consider making a donation to support it through this secure website: http://www.fsma.org/LWC/AndysArmy

We created “Andy’s Army” after our son’s SMA diagnosis as a way to rally our spirits and to remind us of the support of our friends and family at that difficult time. After we lost him to the disease, his army was there to continue his fight and ensure his legacy. We hope that you’ll come out to Ft. Desoto to march beside us once again.

Thank you for being part of our fight against SMA!

–The Butler Family

My husband and I conceived our second child just four months after we lost our first child to spinal muscular atrophy.

The decision to try to have a baby so soon after our son Andy’s passing was a difficult one. However, we hated being “childless parents” and felt ready to introduce another life to our family. After weighing all of our options, we conceived the baby naturally, and we prayed that the odds would be in our favor this time. It was assumed that, since there was no question about Andy’s SMA diagnosis, both my husband and I were carriers of the inherited gene that causes the disease, which gave us a one in four chance of having another SMA-affected child.

We had to wait until I was 12 weeks pregnant with our second child before the pre-natal testing for SMA could be done and three additional weeks for the test results. It was an excruciatingly stressful and long wait. As a condition of the pre-natal testing, my husband and I also had to have blood tests to determine our carrier status.

What the blood test does is count the number of the Survivor Motor Neuron 1 or SMN1 genes a person has. Typically, non-carriers have two copies of this gene, one passed from their mother and one from their father. SMA carriers have only one copy of the SMN1 gene, and their other gene is deleted. When two carriers each pass that deletion to their child, the child’s carrier test will show that he/she does not have any copies of the SMN1 gene at all and will confirm the diagnosis of SMA.

So we were surprised to receive the result that, while I definitely was an SMA carrier with one copy of SMN1, my husband appeared to not be a carrier at all or have any type of mutated gene that would cause the disease.  His test showed that he had two copies of SMN1. We also learned that the new baby, a girl, was an SMA carrier like me, and would be unaffected by the disease. While we celebrated the health of our daughter Lucy, we were left with many questions. The most pressing being that, if my husband wasn’t a carrier, how did Andy have SMA?

Our geneticist gave us two potential answers. Either my husband WAS NOT a carrier, and the gene he passed to Andy mutated upon conception (called a “de novo” mutation), or he WAS a “hidden” SMA carrier with a genotype that the blood test could not detect. She said that de novo mutations have occurred in a small percentage (approximately 2-3 percent) of the population of people diagnosed with SMA. Also, she explained that there is a subset of approximately 6 percent of carriers that can not be identified by the current blood test.

In order to find out more, our family recently participated in what is called a “Linkage Study.” Blood samples were taken from each of our parents, my husband’s siblings, each of us, and Lucy to determine who passed what gene to whom. Luckily, we had Andy’s cord blood stored as well, so we could get a complete picture of how the SMA-causing deleted gene had traveled through our family to him. Scientists at the University of Pennsylvania conducted the study.

We received the results yesterday, learning that my husband is indeed a carrier of SMA. In his case, he received two copies of the SMN1 gene from one parent, and a deletion of the gene from the other. It is that deletion that both he and I passed on to our son.

So why am I sharing this story with you? Because if we’d had carrier testing before we had children, the test results would have indicated that my husband wasn’t a carrier – that he was “normal.” I would bet that the doctor explaining those results to us would have said that, even though I was a carrier, we had nothing to worry about. AND WE STILL WOULD HAVE UNKNOWINGLY HAD A CHILD WITH SMA.

It is critical to understand that the SMA carrier test, while very important, is not 100 percent accurate. If you received a “normal” result from an SMA carrier test, but it is confirmed that your partner is a carrier, there still is a possibility that you might have a child with SMA. That said, we are recommending that everyone in our family who plans to have children test for their carrier status. And, if any of them are carriers – regardless of their partners’ test results – that they also elect to have pre-natal testing done with any pregnancy.

This piece of knowledge is Andy’s gift to us all.

For more information on SMA carrier or pre-natal testing:

• Counsyl (saliva test): http://counsyl.com/
• Athena Diagnostics (blood test): http://www.athenasmaawareness.com
• LabCorp (blood test): http://www.labcorp.com
• Claire Altman Heine Foundation: http://www.clairealtmanheinefoundation.org/index.as
• UMass Lab Updates Newsletter (a very scientific explanation of SMA carrier testing results is on pages 3 and 4): http://www.umassmemoriallabs.org/assets/lab%20updates%20dec%202011.pdf

–Audra Butler