My Story by Madison Rose Reed
I was born on February 4, 1997. I came into this world like any other child-screaming and kicking, pink and rosy. But I
was a very special little girl. My parents Annette and Carl just didn't know yet just how special I would be.
Beginning around four months of age, my parents noticed that I was having difficulty accomplishing normal physical
developmental skills. I couldn't hold my head up and wasn't rolling over. My pediatrician just thought I was a lazy girl.
I kept moving less and less and still had more trouble holding my head up. After switching doctors and seeing a
specialist in developmental disabilities, I was diagnosed with a relatively unknown genetic neuromuscular disease
called Spinal Muscular Atrophy (SMA) at 8 months old. SMA is a group of inherited diseases that destroy the nerve cells
called motor neurons controlling voluntary movements such as crawling, walking, head and neck control and swallowing.
Here are a couple of startling facts about SMA. SMA is the leading genetic killer of infants and toddlers under the age
of two. Unknowingly, seven million Americans ( one in 40 people) are carriers of the SMA gene. There is a 1-in-4 chance
of passing this gene along, thus having an affected child. One in 6,000 live births is affected.
I was diagnosed with the most severe and life-threatening form of this disease, Type 1, also known as Werdnig-Hoffman
disease. Based upon this original diagnosis, I was not expected to live past the age of two. As my parents learned more
and more about this disease, they learned that my chance of survival was much better than the original diagnosis. We
traveled to Newark, New Jersey, to visit a pulmonary specialist in the area of SMA. Dr. John Bach. He gave my parents
real hope that I could live a comfortable, happy life well beyond the age of two. With the use of his noninvasive
respiratory protocol for SMA which includes the use of bipap and cough assist along with an amino acid diet, I have been
able to live 18 years and I am still enjoying a happy life!
A year and a half after I was diagnosed my family joined forces with other families in Ohio to support research for SMA
and to develop a clinic at the Ohio State University/Nationwide Children's Hospital dedicated to SMA. OSU led the way
in blood testing to diagnose SMA. In addition, OSU developed SMA mice and pig models. They have proven that by increasing
the SMN2 protein in these mice with SMA that it will correct/cure them. Further drug testing and development, gene
therapy, antisense oligonucleotide (ASO) and stem cell research is currently being done on these mice as well as other
animal models such as pigs to find a safe and effective treatment for SMA. The National Institute of Health granted
funding towards a pilot study on SMA Research. SMA is serving as a model. The potential cure for this dreaded disease
and others like it lies within this promising research.
My highest priority would be to save the lives of all SMA children and adults. But beyond that I am committed to making
this disease easier for other families to deal with. I try to give families hope by sharing my experience with this
disease through social media. I've dedicated my life to raising funds and awareness for SMA. The SMA Awareness Ribbon
created by my aunt in 1997 was inspired by me. It holds the true meaning of our fight to cure SMA!
Even though I have SMA, I still love to do things that any other 18 year old loves to do like shop, go places like the
movies, concerts, the zoo and most of all Walt Disney World!
Throughout my battle with SMA, doctors in central Ohio knew few strategies to deal with the impact of this disease.
Through much struggle and countless sleepless nights, my parents and I have learned so much but much more needs to be
learned by so many.
Believe In Miracles! Never stop believing!