"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? My name is Avery Lynn Canahuati, I'm almost 5 months old, and this has become my reality. But before I die, there's a few things I'd like to accomplish ... this is my bucket list and my story. SHARE IT & HELP ME TELL THE WORLD ABOUT SMA!"Her family's reaction included everything you would have expected from those in their situation: sadness, anger, confusion, fear. But they also acted in a way you might not expect. They decided to set up a website with of things she would like to do in her short life. They hope that it will bring public awareness about her disease, and raise money to promote research to find a cure for the illness.
With these words readers are welcomed to the web page , written by 6-month-old Avery Canahuati (with the help of her father Michael).
On April 9, Avery's parents got the devastating news that Avery has Type 1 Spinal Muscular Atrophy (SMA). She was evaluated by a neurologist when she began to lose the use of her leg muscles.
Their website has had almost two million visitors."The reality is that this disease will take my life at some point and there is currently nothing that can be done to stop it. So at this point, my family & friends can either sit back and watch me die and let my life be about doctor’s visits and tear filled days or everyone can embrace what my future holds and we can make each day I'm here a memorable one...starting now."
Avery has been able to check off a number of wishes on her list, including meeting another child with SMA, and even throwing out the first pitch at the Houston area's minor league team, the. She also got to check off another wish at the game: “Shake hands with 'super hot baseball players.' ”
But Avery has some grander ideas of what she'd like to do to increase awareness of SMA -- including meeting Oprah, or being on the Ellen DeGeneres Show!
What is Spinal Muscular Atrophy?
Spinal Muscular Atrophy (SMA) belong to a group of hereditary diseases that cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children.
The disorders are caused by an abnormal or missing gene known as the survival motor neuron gene (SMN1), which is responsible for the production of a protein essential to motor neurons. Without this protein, lower motor neurons in the spinal cord degenerate and die.
There are 3 types of SMA (I, II, or III), which are determined by the age of onset and the severity of symptoms. Type I has the earliest onset, usually at birth, and the most severe symptoms.
Type II usually happens in early childhood and is less severe but still disabling. Type III can happen as late as adolescence and may be only moderately disabling. The most famous person with SMA III is theoretical physicist, cosmologist, and author .
According to :
- SMA is one of the most prevalent genetic disorders.
- One in every 6,000 babies is born with SMA.
- SMA can strike anyone of any age, race or gender.
- One in every 40 people carries the gene that causes SMA. The child of two carriers has a one in four chance of developing SMA.
- 7.5 million Americans are carriers.
SMA Type I, also known as Werdnig-Hoffman disease, or infantile-onset SMA, is evident at birth or within the first few months. Symptoms include floppy limbs and trunk, feeble movements of the arms and legs, swallowing difficulties, a weak sucking reflex, and impaired breathing. A baby with SMA Type I will not be able to sit without support. The majority of babies with SMA Type I die of respiratory failure within the first two years.
How is SMA diagnosed in children?
A blood test is available that can indicate whether there are deletions or mutations of the SMN1 gene. This test identifies at least 95 percent of SMA Types I, II, and III.Managing Symptoms and Preventing Complications
Respiration
Babies with SMA (especially those with Type I) may need help breathing, especially at night, using non-invasive methods that include negative pressure ventilators and bi-level positive airway pressure support, which direct air through the nostrils via a small, gently-fitted mask. Children who survive their first two years are at risk for complications involving the lungs, which may not be fully developed. A regular program of respiratory therapy and breathing exercises is helpful. Parents should be instructed in chest physiotherapy (CPT), a series of physical maneuvers that clear the lungs and airway.Failure to thrive
Infants with SMA I may have difficulties getting adequate nutrition because they have a weak sucking reflex and tendency to tire easily. Their unprotected air passage makes it difficult for older babies to chew and swallow; they may inhale and choke on their food. Some babies may require feeding with naso-gastric or gastric tubes.Mobility
Children with SMA Types I and II are not likely to stand or walk on their own. They can be taught to operate a power wheelchair at two to three years of age. Less handicapped children may benefit from a standing frame, vertical stander, or standing wheelchair. Physical therapy and exercise may also help improve mobility and joint movement, brighten mood, and improve sleep patterns. Stretching exercises can preserve and increase flexibility.Orthopedics
Scoliosis (curvature of the spine) occurs at some point in the majority of children with SMA Types I and II, and some with Type III. Custom seating systems, seating aids, and a body jacket can be used to prevent severe scoliosis. Spinal fusion surgery may be necessary for some children.More Information
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UPDATE: May 1, 2012
Very sad news; Avery Catahautati died yesterday afternoon. She developed a , which caused her to go into cardiac arrest. Her father, Mike Canahauati, wrote in a :"Avery's passing this quickly came as a complete shock to all of us, as she had just been given a thumbs up at her last doctor's appointment only three days ago. While we were aware of the severity of her diagnosis, we never lost hope for Avery."Mike vows that he will continue to be an advocate for those with the disease:
[B]efore Avery passed away, I made her a promise that I would continue to be an activist in raising SMA awareness, making genetic testing universally available, and in finding a cure for her friends. I will not break that promise and in the name of SMA awareness and funding a cure, I hope parents of children everywhere will look at Avery's Bucket List and help her complete items she was unable to.Our sincere condolences to the Canahauati family.