Tuesday, November 30, 2010

We are SMA

Spinal Muscular Atrophy (SMA) is a neuromuscular condition that many people have never heard of until it is too late. Diagnosis Day – SMA comes into your life like a bomb, forever altering the hopes and dreams that lay before you moments earlier. You have just been told that your child has Spinal Muscular Atrophy and will, likely, not make it to their second birthday. Will your child be a dancer? A painter? A musician? An athlete? An actor? A scholar? According the statistics, the doctors, even internet resources, the answer is a wholehearted, unquestioning, NO. Your child will fight to breathe, swallow, move, eat, and possibly even lose their precious smile. You will learn more medical terminology than the entire cast of Grey’s Anatomy and worse yet, you will retain the information and be able to argue your position to the most educated physician without hesitation. You will learn what it means to have a g-tube vs. a gj-tube, a Trilogy vs. an LTV, and a tracheotomy vs. NIV. You will fight, fight for the care you want your child to receive, fight with others who do not understand your decisions, fight for your child’s life. And despite all of this, you will be reminded on a daily basis that no matter what you do, your child will not survive beyond the age of two. You will say, to yourself and others, “no, my child will beat the odds…we will be the lucky ones”. Perhaps you’re right and, yet maybe you’re not. There is no way to know.

But let’s back track…Why can’t you live life to the fullest? Why can’t your child, despite physical limitations, be whatever he or she aspires to be? Yes, it’s true that there is no treatment, no cure for SMA. But that doesn’t mean life must come to a halt. You can choose to focus on the statistics, the hopelessness touted everywhere you look. Or you can choose to live your life, with the knowledge that your child has SMA, and do whatever you can to ensure that your child enjoys life to the fullest extent. Go to the beach, the library, Disney World, a movie, the zoo, the mall. The options are limited only to what you’re willing to try. SMA may limit your child from washing their own face but it does not limit their ability to learn. Your child will absorb every bit of information you throw at them and will understand more than a “normal” child their age ever could. Teach them everything you can. With education, your child can be the scholar, the athlete, the musician, whatever he or she wants to be. They can be anything because you have the courage to believe that anything is possible.

Statistics matter not, nor do other people’s opinions. Perhaps the cure is a moment away or maybe a millennium away, it matters not to you. Your child is a part of your life, in this moment. Tomorrow, well that is mystery as of right now, and that is okay. You will take today and make the most of it because, for now, it is the best day ever.

Friday, September 17, 2010


So yesterday was all about why I blog and Spinal Muscular Atrophy (SMA). Today, I'm killing 2 birds with one stone, so to speak.
My friend and Respiratory Therapist (RT), whom I shall refer to as 'A', is giving a presentation to new RTs and asked me to help her by explaining things from a patient's perspective. Easy! But I also think that it is important to share my thoughts on respiratory care and SMA with all of you (who may or may not give a hoot about the subject).
I'm kind of a unique case, at least that is what A says about me. I have first hand experience with NonInvasive Ventilation (NIV) and tracheotomies. I successfully used NIV for 13 years and adored the freedom that it afforded me during my formative years. I used a BiPAP machine for about 2 years with a monarch mask. I used it nearly 24/7 and enjoyed a fairly active lifestyle (although Brenda was made into a pack horse; toting my BiPAP, suction machine, Cough Assist, and 2 marine batteries everywhere we went, on her back...and no, she doesn't have any back problems to this day). At age 9, after spinal fusion surgery, I required more ventilation than the BiPAP machines at the time could provide. I was switched, with no problems, to an LP10 ventilator. I learned how to use the vent with a mouthpiece for daytime ventilation and a mask over my nose for nighttime use. I was transitioned to an LTV950 ventilator somewhere around 7th or 8th grade for daytime use only, still using my trusty dinosaur LP10 at night. Just prior to an extended vacation Brenda suggested that I try to use the LTV 950 for sleeping so that we didn't have to bring both ventilators with us on vacation. Not being a huge fan of change, I took quite a bit of convincing but eventually caved and tried it. Suffice to say the LP10 saw it's last night of use ever! I am huge LTV fan and always will be. My NIV system served me well until the beginning of 2008 when I caught the flu and required hospitalization. After recovering from the flu I discovered that any time I was in my wheelchair, my airway would collapse. After trying several hundred techniques to keep me breathing, I decided to have a tracheotomy placed. It was a remedy that allowed me to continue the life I had planned for myself. Getting a trach was definitely an adjustment for everyone in my life but it has allowed me to continue living a great life.
A asked me to write about what I think RTs need to know about SMA. First and foremost, I have found that many individuals in the medical profession see the lack of movement that accompanies SMA and assume that a mental disability accompanies it. The exact opposite is generally the case with people, children included, living with SMA. An internet search of SMA may come up with hundreds of thousands of depressing facts that leave people with little hope and even less knowledge. My friend PB recently said it perfectly "SMA.....it is a diagnosis not a prognosis". I know that RTs don't make proclamations about life expectancy but they do support families during some of the most terrifying moments of their lives. So please, know that when you say something in a room with any patient, not just SMA, we can hear you.
SMA is, overall, an extremely complex condition. It affects breathing, eating, proper digestion, movement, tolerance towards certain amounts and types of nutrition, basically everything. With that knowledge though, know that each individual with SMA is different from the ones you have seen before. Our lungs don't all "play fair" with the same settings, some will have wild heart palpitations after an albueterol treatment and others will calmly settle into a comfortable sleep afterwards, some enjoy a great chest physical therapy session while others will scream for the entire time. We're all different from each other, just like you are different from the individuals sitting around you.
I can't possibly tell you everything I know about SMA and respiratory care. But I will leave this with a bit of advice. Listen. That's all you have to do! Listen to your patients and their families, especially the chronically ill ones, they know what works and what doesn't. You have the ability to make a huge difference in the world just by listening.

Thursday, September 16, 2010

Spinal Muscular Atrophy Blog Party

Since I am new to blogging, I'm not entirely sure what a "blog party" is all about but I like parties, especially when a lot of my friends are attending, so I'll try it.
According to the rules of this party, I'm supposed to tell you about Spinal Muscular Atrophy (SMA). I can do that!! If you want a lot of facts and information on SMA, check out THIS PAGE that I put on almost all the websites I design (more on that in a bit). What I like to tell children when they ask "what is wrong with you?" or "Mommy, what happened to her?" (for the record, this does NOT offend me but I think I could save that for an entire post) is below.
"You have just heard about SMA and are now wondering what that is. SMA is a short way of saying a really long word. SMA stands for Spinal Muscular Atrophy, which is why everyone just says SMA. SMA is like an illness that you can’t catch, so don’t worry. People are born with SMA. Kids with SMA are just like everyone else, they just do things differently. Kids with SMA use wheelchairs to move. Kids with SMA don’t have a lot of muscles. Think about how big your muscles are right now and now imagine what it would be like if you didn’t have any. When you are a baby, you have tiny muscles that don’t work well but they grow bigger as you get older. In kids with SMA their muscles don’t grow. They have little muscles because their muscles didn’t get the message from the brain to grow. Thankfully, the brain isn’t a muscle so kids with SMA are smart and love to talk and laugh and sometimes even tell jokes. Everything you do involves muscles like how you eat, how you move, and even how you talk. Any movement is hard when you have no muscles, so doctors are trying to find a way to make the muscles grow bigger. You can help by raising money to help the doctors find a medicine to help the muscles grow bigger and stronger so that kids with SMA can be just like you."

I was diagnosed with SMA type at 6 months of age. No one in my family had ever heard of it until I came along. My little sister, Emma, also had SMA but flew to heaven when she was 3 years old. I'm not going to bore enlighten you with the details of my life; I'm saving it for the Lifetime miniseries about my life. ;) But I DO want to tell you about this amazing little community that I am so honored to be a part of.

I didn't necessarily want to be a member in this not-so exclusive club but here I sit, currently in my favorite place on earth, my Grandma's home - in "my" room, with a cool breeze blowing in on me. The SMA community is a club and a family with members from all parts of the earth. It houses members from every class, religious belief, gender, political view, and race. I'm proud to be a member of this club...I get to be a part of so many amazing people's lives.
By the time I was in my mid teens, I wanted to be more than just a passive member of this club. I wanted to do something, give back, help people and that is exactly what I did. With help from Brenda (see previous post if, by some odd black hole/time warp thing, you have no idea who she is), her family, my family, and friends, we started B4SMA. B4SMA is an organization that sends blankets to children, up to age 21, with SMA from around the world. In a little over 5 years we have sent over 800 blankets to countries ranging from Canada to Japan, South Africa to Iceland, Solvenia to Brazil, and of course many other countries including the United States. It is a very rewarding venture and we will continue to do it until a cure is found.
Unfortunately I was still yearning to do more...but what? I mean, as a high school junior, I didn't have money, I didn't have connections, I didn't have a career. But I did have a computer and creativity yearning to be let loose on the world. My dear friend, Laura, ran an organization called Our SMA Angels that provided web space to families dealing with SMA. The web space was free and unlimited. Laura created Our SMA Angels in honor and memory of her sons, Devon & Sidney. I wanted to help her continue this amazing work and, after a bit of pushing (the tenacity for which most certainly came from my mother), she allowed to me be a part of her previously one-woman team. Since then, I have become the head designer on new websites and also help with upkeep of older ones. None of that would be possible without Brenda and my (sorry, falling back to my middle school days) BFF, Kim J. Kim helps update older websites and walked me through my earliest frustrations with FrontPage. She, too, has earned a post all about her, eventually. My creativity comes naturally from my extraordinarily artistic father, who is the visual manager at a place that could easily be described as a child's wonderland. He is fantastic at his job and, although we are creatively very different from each other, always praises me on my work. He's my dad, he has to. I'm not entirely sure how many sites I have designed/updated/maintain but I think it is close to 90.
For me, however, enough is never quite enough when it comes to helping others. My creative energy wanted more and more! I couldn't really find a suitable outlet for the wants and desires...Enter Shelle, mom to Logan. I can't begin to describe what Logan means to me in this already too long post, so you will have to wait. Anyway, Shelle said that they were needing T-shirts for a fundraiser and wanted to know if I could do that. Umm, sure? I mean I could try. It was so much fun that I created a store at Caf├ęPress and recently expanded to Zazzle.
My latest, although I've been doing it for a little over 3 years now, venture is making videos. It is my latest and greatest passion...for now. I make videos for SMA families mostly but I have made a few about myself and my family.
For now this fills up my time but I'm certain that in time I will want to do more. Perhaps a book or something...Who knows what lies in my future but I am certain of one thing, I will be a member of this community until the community is no more.

Want to know more about SMA?? Watch this!

My First Post

The title of this post is oh-so original, don't you think? Anyway, most of you (actually I'm hoping ALL of you) know me, at least a little. I'm 22 and already have a bazillion other websites that I don't keep up with, so let's add another.
This blog, I'm hoping, is going to be the start of a new chapter in my life. This past year has been a roller coasters ride of changes for me and I decided that, although I despise great changes, I would do my best to embrace my new life.
I'm not going to back track today and tell you my life story (mostly because it is nearly 4pm and I have other things I need to do today) but maybe a bit of history may help you understand me and my ever-changing world. At 22, I am currently in the process of moving home to live with my father, stepmother, and chauffeur/chef/maid/laundress/nurse/confidant/24/7 companion, Brenda. I am nearly finished with my BS degree in Rehabilitation Services and SO thrilled to be nearly done. I have lived away from home for 4 years and this is bound to be the topic of many later blog posts.
Besides the recent upheaval that has torn through my "mundane" everyday life, I wanted to start a blog to write...write about anything and everything, truth or fiction, what bothers me, why I own hundreds of pairs of shoelaces but never wear shoes, what big-eyed beautiful child recently captured my heart, etc. I have always been a very creative person; making up characters and stories has been a passion of mine since I was very young. On many Saturday afternoons in the early to mid 1990s you could almost always find me at the kitchen table, with my best friend, Janet, making up elaborate stories to be acted out by my Barbie dolls. Somewhere around 3rd grade I developed a passion for writing fiction, declaring to anyone and everyone that I was going to be a children's book author when I grew up. I spent most of 3rd grade in the den of our home, being homeschooled by some of my favorite adults. I devoured everything but my favorite part of the day was daily journal exercises. My in-school 3rd grade teacher didn't know what to prompt me with for journals so Brenda found books with prompts that not only amused my little 3rd grade mind but also challenged it to write and think.
By getting into a blog I want to get back to that. I have been writing research papers and essays, defending my position on a topic, criticizing or commending the work of others for the past four years. I want to remember why writing is fun and enjoyable!