Spinal Muscular Atrophy: Avery's Bucket List Blog Raises Awareness Of The Disease, But What Is It?

A newborn baby's battle with spinal muscular atrophy inspired her parents to start a bucket list blog.

HULIQ reports on Avery's Bucket List blog, a site that aims to spread awareness of Avery's illness, which progressively weakens muscle function. Avery's doctors told her parents that the five-month-old has 18 months to live.

"Imagine you've been diagnosed with an incurable genetic disease and you are told you will not only lose your ability to walk and move your arms, but you will die between now and the next 18 months. What would you do?" Avery's parents write in her voice on the blog.

But what exactly is this rare disease?

Spinal Muscular Atrophy occurs in three different types, according to the National Library of Medicine. The disease attacks nerve cells in the spine, Medline Plus explains, affecting voluntary muscle movement, like walking or crawling. "Infants with SMA type I are born with very little muscle tone, weak muscles, and feeding and breathing problems," the NLM notes.

It's a genetic disease that usually comes from a defective gene in both parents, according to the NLM. SMA affects 4 out of every 100,000 people.

A family history of neuromuscular disease, flaccid muscles and twitches of the tongue muscles could all be signs of the disease, which can also affect children.

There is no cure for the disease, but the SMA Foundation says "new therapeutics have entered clinical trials or are approaching trials in the near future."

To Learn more about SMA, visit the SMA Foundation.

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Comments

[ron rousseau]

07:10 PM on 04/29/2012

My Son was diagnosed with SMA at age 5. He is 25 now and enjoys a very full and productive life. He is enrolled at Portland State University and has a 4.0 GPA. Like many people with this condition he is very bright. In his spare time he enjoys skiing with Oregon Adaptive Sports and has been doing that since childhood. He loves a powder day spent with his friends on the mountain!
It is good to see this article regarding this somewhat unknown and devastating illness. Even better is the information regarding possible breakthroughs in the future, that gives all hope.

[Kim Holbrook]

09:40 PM on 04/28/2012

OMG I will never complain again....

[Princess Madison Reed]

09:28 PM on 04/28/2012

Spinal Muscular Atrophy or SMA is a disease that babies are born with. They can't walk, sit up, eat or swallow and sometimes can't even talk or breathe. Their muscles don't work right. Their brain is perfectly fine. They understand everything. SMA kills more babies than any other disease. Most kids with SMA don't live past their second birthday!
I have SMA type 1 and I'm 15. I'm not supposed to be alive still but I was given a chance to live. My mom found ways to keep me alive. Most parents don't even try to get their kids the proper equipment and care they need. I love life and I have a GOOD life! I'm a normal kid just like you and like the same things. I just can't do things the way you can. Get a life not a list!
There is a cure waiting to happen in my own backyard. Minimal funding with BIG results NOT minimal research! SMA Gene Therapy at nationwide Childrens Hospital is giving me hope!
If you want to help me raise more awareness for my disease go to: www.miracleformadison.org . Most people have never heard of it and they really need to because it could happen to anyone.

[NYCSTOFMIND]

11:24 PM on 04/28/2012

Thank you Madison for sharing your Web site. God bless!

[LO Raine]

10:59 AM on 04/29/2012

Good point, Madison. However, I would like to just say that "most parents don't even try to get their kids the proper equipment and care they need" couldn't be farther from the truth. Every SMA parent I know goes above and beyond to make sure their children get exactly what they need.

[LO Raine]

07:06 PM on 04/28/2012

My daughter is almost eleven years old and she is living with SMA. She is bright (in fact too bright most of the time), loving, and absolutely amazing. She's had different firsts than other kids in her class - instead of first steps, she had a first roll in her wheelchair. She breathes differently, gets around differently, and does just about everything differently. But she does A LOT. She loves music, theater, and art. She has never been told of a prognosis, nor will she be. We discuss her future - she wants to be an actress. We discuss college - she wants to live in a dorm. We even discuss how she wants to be a mom and wife one day. She'll do all those things. Differently, but she'll do them. There is more than a clock to beat. This disease has a cure coming in our children's lifetime. SMA may win a few battles, but we will win the war. There is hope. I commend Avery's parents for raising awareness about SMA but I hope everyone who reads her story walks away not feeling sorry for her, but feeling hopeful for Avery and every single person living with SMA today.

[Michelle Worrellia]

08:52 PM on 04/28/2012

thank you for your words on SMA and hope. My 15 year old niece has sma type1. She is a fighter and a lover of LIFE> Yes she has had all or your daughters first plus she has meet manyof her faorite rock stars -- from Hilary Duff - her first concert and all time favorite - to Miley Cyrus, Raven, most of the Disney charactters to what we are calling her tweeny booper years - BIG TIME RUSH. Yep a boy band crush. There is promising research going on right now getting ready to get into human clinical trials. Research is being slowed down because of funding not because there is little to none being done. Get the facts straight -- look up what really is SMA. So if you want to make a difference for SMA -- donate to research at Nationwide Children's Hospital SMA g\Gene Therapy program. Ohand my niece isJUST like YOU>