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The true meaning of “life is unfair”

The true meaning of "life is unfair"

Photo Credit: courtesy of Suzie Berry

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Written by Rachael Zielmanski, The Eagle Staff Reporter

Editor’s note: The personal experience of Obama teacher Mrs.Berry is below and a must read

Spinal muscular atrophy, also known as SMA, is a neuromuscular disease.  It results in a progressive muscular atrophy (wasting away) and or weakness.  The spectrum of SMA ranges between early infant deaths to mild weakness in almost normal adulthood.  SMA patients often require comprehensive medical care.  This can involve pediatric pulmonology, neurology, orthopedic surgery, low extremity, and spinal orthotics, to name a few.

The juvenile version of this is referred to as Kugellberg – Welande SyndromeBut in all forms of SMA, its main feature is muscle weakness. This is a result of denervatioin or loss of the signal to contract that is transmitted from the spinal cord to muscle via motor neurons axon.  The features of the disease are strongly related to its severity and age onset.

SMA is caused by mutation of the SMN gene. There is a large range from fatal to trivial, and infant to adults, with different affected individuals manifesting every shade of importance between the two extremes. Many SMA students’ symptoms relate to secondary complications of muscle weakness. Of all forms of SMA, Infantile SMA is the most severe.

Some symptoms of Infantile SMA include muscle weakness, weak cry , weak cough, bell-shaped torso, legs lying in a “frog leg” position, feeding position, bowel/bladder weakness, and lower than normal weight. In order to be diagnosed with Spinal Muscular Atrophy symptoms must be present,

In most SMA cases, diagnosis can be made by an SMN gene test that determines that at least one SMN1 gene is present. This can be seen by looking for its unique sequences that defines it from its almost identical SMN2 gene in axons 7 and 8. In some cases the SMN gene test is not possible. In these cases other tests are used.

The most common form of SMA is caused by mutations of the SMN gene and manifests over the large range of severity affecting infants through adults. The SMN gene is found on chrosome 5 and the affected gene is called “SMN1” addition to the other forms of SMA there a lot of other forms.

There are treatments for Spinal Muscular Atrophy available. Some use aggressive technology such as ventilators, power wheelchairs, and modified access to computers. There are also drug treatments possible including Butyrate, Valprocid, hydroxyurea, riluzole, and quinazoline495 (6). Ventilation is important. Infants with the severe forms of SMA frequently succumb to restpatory disease.

One Family’s Story—By Mrs.Berry, 8th grade math teacher

My nephew, John Sullivan Rossmiller (AKA “Sully”) has SMA Type 1.  He was diagnosed when he was about 4 months old and his parents and pediatrician worried that he had not yet begun to lift his head.  At the time they were told that it was unlikely that he would live to see the age of two, as SMA 1 is the most aggressive form of this genetic disorder.  It was explained extremely that he would never walk, talk, and eventually would lose the ability to swallow and breathe on his own.

Of course this was devastating for my brother, John, and his wife, Cherise.   They began a whirl wind tour of doctors, specialists and trips to the children’s hospital inAtlanta,GA, about two hours from my brother’s army base inColumbia.

At about 6 months of age Sully lost the ability to swallow and was fitted with a GI tube in his stomach so that he would not choke to death on his own food.  Even with that, however, there was and is always the danger that he will aspirate (choke) on his own saliva or mucus secretions – a constant worry for a child when they begin to teethe! In those short few months his parents watched as he lost the ability to kick, turn his head, or even smile as widely as he used to.

For the first 9 months of his life, Sully was in and out of the hospital almost constantly for breathing difficulties or surgery.  There was always the danger that a simple childhood cold would turn into pneumonia, which Sully’s compromised respiratory system could never handle.  When he was a little over a year (a big milestone!) he was fitted with a trach and he now breaths with a ventilator.

When I visited my brother in August, I got to see first-hand the daily struggles and crises that he and his wife have to deal with.  Sully requires daily breathing and cough treatments (unlike most of us, he can’t clear his throat or lungs – most people don’t realize how often they do that during a day!).  His parents and nurses have to be vigilant in checking his oxygen and heart rate to catch any kind of sign that might mean he is having trouble breathing or choking.

We decided, one evening, to go out to dinner and leave Sully in the care of his nurse – something my brother and his wife hadn’t done since Sully was born.  As we were on our way, about 20 minutes out, the nurse called to say that Sully was in “crisis mode” and she was calling the EMT’s.  The 10 minutes that it took for my brother to drive, Jason Bourne style, through the highways and back roads ofAlabamaback to his home were the most intense of my life – watching my brother’s concern and listening to my sister-in-law crying into the phone, “Don’t you let them take my baby!” – the truth is that most hospitals and EMT’s, except in the most metropolitan of areas, do not know how to care for SMA babies.  My brother sprinted up his driveway, now blocked by ambulances and fire trucks, into his home, pushed medical personnel out of his way,  and took over emergency care for his son, now ashen and gray.  Within a few moments he had suctioned and resuscitated Sully.  My brother may be an Army Ranger who jumps out of planes and fights inAfghanistanin “real” life, but it was at that moment that I knew he was Superman.

But, this is what it’s like for a family that lives with SMA, and especially SMA 1.  Sully is doing really well now.  My brother’s army buddies gave him a gift of an IPad in August and he is learning to use it to watch videos.  He can still move his hands up and down slightly if someone holds his wrist, and my sister-in-law reported yesterday that he was coloring with a marker and was really amazed with himself!  He was fitted with a wheelchair recently and has been going on walks with his Dad and loves it when my brother lets the wheelchair race down the driveway.

Sully will turn two in April, and we are looking forward to a time when his family will be able to outfit a van to suit his needs and travel north to visit his aunts and uncles.  My brother is now looking into computer programs that operate based on eye movements or brain waves (a lot of this technology is still in its infancy, though).  When I talk to my brother and his wife, though, what they want most, aside from a happy life for Sully and his new baby brother, Max, is for people to be aware of what SMA is and to help others who might not have access to the health care and equipment that has made Sully’s life longer and more enjoyable.  1 in 40 people carry the SMA gene and yet there are many people, and even doctors, who have never heard of the disorder.  If you’d like to learn more Families of SMA has a facebook page ­- http://www.facebook.com/?ref=tn_tnmn#!/familiesofsma

And my brother and his wife recently started a page for Sully http://www.facebook.com/?ref=tn_tnmn#!/profile.php?id=100003341535686

 

           

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