Monthly Archives: June 2011

Profiling SMARD: Silas’ Story

** Silas is the son of Lisa, who has been working so hard to get us connected with the Jackson Laboratory!**

 

Silas Werner baffled a small army of Pittsburgh pediatric specialists before he was diagnosed with SMARD (spinal muscular atrophy with respiratory distress) three months after his birth. His parents, Lisa and John, were devastated.
The horrifying news of Silas’ diagnosis came after the death of their first child, Valentia, who died one year earlier at age six weeks. The medical examiner listed the cause as sudden infant death syndrome, despite the absence of risk factors. When Silas was later diagnosed with SMARD, his sister’s death was further investigated and it was confirmed that Valentia—the Latin term for “strong and brave” also had SMARD.
After being assured that SIDS never happens twice within the same family, Lisa took on the challenges of another pregnancy. Silas was born just after Christmas in 2009, at a low birth weight just like his sister, only four pounds eleven ounces. Lisa says she intuitively knew then that she and John faced enduring another “nightmare.”
“Our daughter died in our house, and I lived in constant fear that I would walk into his room and Silas would be dead, too.” Lisa and John, never convinced that Valentia died of SIDS, enrolled Silas in a voluntary sleep study. This miraculous decision saved his life, as he was intubated and rescued when his breathing stopped during the study.
Early into five months of tests, doctors had ruled out SMARD. They eventually diagnosed botulism, assuring the couple that, with the right medications, he would make a complete recovery. He didn’t. Eventually, testing showed SMARD should not have been ruled out.
“We liked the named Silas because in Latin it means from the forest, and we felt like expecting him was the only thing that could pull us out of the forest of grief after losing our daughter,” says Lisa. “Meanwhile, he was the messenger who led us out of the forest of unknown.”
Living against all odds, Silas, now almost two years old, requires round-the-clock care supplied by visiting nurses and his parents who mastered “special needs boot camp.” Despite his condition, Silas radiates joy from his smile and happy facial gestures. John, Lisa and his nurses describe Silas as “having the sweetest disposition of any baby we’ve ever met.” Speaking haltingly through a ventilator, he’s now mastered “mama” and “papa,” much to the delight of Lisa and John.
Despite not being able to breathe on his own and not being able to use his arms and legs because of muscle weakness, Silas is like any other child. He loves music and especially the show Glee. He smiles and likes to watch the wind blow through the trees. And he loves to snuggle in bed with his parents. “Silas makes life rich,” they say.

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Profiling SMARD: Anthony’s Story

​Anthony’s life began with an emergency c-section.  Previous to that, I noticed decreased fetal movement in my last trimester.  My obstetrician ordered several non-stress tests but each one came back fine.  The last one,  they decided to also have an ultrasound conducted and noticed that I only had 20% amniotic fluid.  So that day I was admitted into the hospital and was to be induced the next day.  
​During the induction, my blood pressure became dangerously high ,and do not really remember too much after that – fortunately both my husband and sister filled in the blanks.  
​Anthony’s began to destat and they decided to go ahead with a c-section.  During the operation, Anthony did well, but they almost lost me.  My blood pressure began to plummet and they had to bring me back.  
​After I came to, I asked what we had and asked how he was doing.  He was great!! He just needed a little pass of oxygen, but other than that he was fine.   What I find ironic is that his agar scores were 9, 9 and 10 and he had no problem breastfeeding.  He was on the small side, 5 lbs. 4 oz., but the doctors believed that was due to the decrease amniotic fluid.  They also noticed that I had cysts all over the placenta.  They could not explain that.  I still do not know what that all means.  
​He soon gained weight.  By one month of age, he was already weighing 10 + pounds.  The only problem that we soon saw was his platelets, red blood cell and white blood cell count  were dangerously low.  We had to keep on coming back each week for blood draws until he was three months of age.  At the last doctor’s appointment, my pediatrician said that if this blood draw comes back low again, she was going to refer us to an oncologist.  Luckily, it all fixed itself.  Don’t know why, but luckily it did.  
​Started to notice around six months, he was not making the milestones that normal children do, so my new pediatrician wrote a script for physical therapy.  We began that and he was making great progress. We also saw a neurologist who believed he may have Spinal Muscular Atrophy.  So we had blood drawn.  At around nine months, right around Christmas 2001, he contracted RSV.  He had a hard time clearing the mucous from his nose and lungs.  Something just did not seem right so we took him to the local emergency.  There they x-rayed him and said that it spread into pneumonia.  We were admitted. During a routine blood draw, he began to turn blue and they called a code.  My husband (who is a teacher and a coach) was at a tournament.  I was all alone and worried my son was going to die.  It took them a hour and a half to bring him back.  He was now intubated!!  They  cleared up his RSV pneumonia, but we still did not have the blood work back and I had to fight with Athena Diagnostics about getting the results.  They said our insurance was not going to pay for the test and before they release the results they wanted payment.  I wrote to then Senator Ted Kennedy and Senator John Kerry about my problem and we received the results of the SMA test which came back negative.  I was very happy, but bewildered why he was still unable to come off the ventilator.  It was going on three weeks at this point, and his pneumonia finally cleared up.    Unfortunately, he contracted another infection and we continued to stay in the hospital for an additional 26 days.  We wanted him to come home without the ventilator is at all possible since we did not know that he had SMARDS.  We transferred his care to the University of Michigan for additional therapy and the possibility of getting off the ventilator.  It was not to be – he was trached and we finally came home after an additional 35 days in the hospital.  We could not wait to come home.  A total of 82 days was exhausting.  I lost 30 pounds, got a herniated disk from standing so much ( I stayed by his bedside for 15 hours a day without sitting), and also got the flu as soon as we were home.  So exhausted, but thought the worst was behind us.
 
​Now I had a mission to find out what was wrong with Anthony.  SMARDS was not a diagnosis in 2002 for us.  I contacted doctors through the MDA, Cincinnati Children’s Hospital, even the Mayo Clinic but no one could tell us anything.  He got sick several more times where we had to stay in the hospital for two months at a time.  It was heart wrenching.  The last time was when his gastric tube was placed.  It began innocently enough with a standard cold that developed into a serious lung infection.  He stopped eating, not enough to sustain him, and through the night (I sleep in his room at all times, but this one night did not place in pulse oximeter on) I woke up to find him seizing , his eyes rolled back and blood everywhere on his face from biting his tongue.  We had to call emergency ;  when we got him to the hospital, they told us that his blood sugar was five.  It should be between 100 and 120 for kids like him.  The doctor said we are so fortunate we did not lose him right then and there.  Now we had to see if anything happened in his brain from the lack of oxygen.   He had a pet scan and they said that his basal ganglia did have slight damage, but we would have to wait and see if he would return to his normal function (for him).   Luckily he came back to his normal self within a week.  
​We also endured a stay whereby he had fluid on his lung (a whooping 3 liters).  The doctors were amazed that his saturation only went to 90 the entire time.  When we were at the hospital for that stay, they did a full electrolyte panel and CBC.  They noticed that his Vitamin D, Calcium, Sodium, Phosphorous, and Iron were either elevated or low.  The one we had to be concerned with was his ferritin.  Ferritin levels measure the amount of iron in the blood, his was 12,000 the normal is 200 max.  The most any known cases in medical books was 700 but Anthony’s was 1714% higher.  They would have to check his bone marrow to see if he had hemochromatosis.    He did not and the doctor could not explain why his number were too high.  The only thing they did notice was that he did have the bone marrow of an 80 year old;  probably due to his lack of weight bearing.
 
​I read about a lab in England were they tested blood for a disease now known as SMARDs1.  I asked my neurologist about it and we had to have our insurance ok the testing.  It was $650 to ship the blood and $1729 for the actual test itself.  We did not have the money for that and luckily our insurance did pick up the cost.  It took a full 6 months to get the test results back.  When we did, it was a slight relief.  I knew of SMA but not SMARDs and the MDA was not familiar with it either.  I worked again to find out more information and found more information overseas than here in America.  We are so behind the times when it comes to new discoveries.    
​Unfortunately,  for Anthony we have seen his abilities decrease as his gotten older.  He was able to eat orally, pick up objects with his hands, roll-over, kick his feet, sit with a little help, but he is unable to do those things.  The only consolation I have is I did find out that as long as we keep his lungs healthy, he should live fairly long, because the brain, eyesight, hearing are usually not affected in SMARDS children.  He has been very healthy, (knock on wood) for two straight years.  I keep him away from most people during the winter months of Michigan.  He only sees his nurses, and me and my husband.  If anyone is sick they are not allowed anywhere near him.  During the summer we take him a few places-we try to find places where there are horses.  He just loves horses!!  He also loves trains!  
​I feel so very blessed that he has survived this long, we almost lost him three times in his short life.   I do not know what the future holds, I only pray that Anthony is part of it for a very long time.  I would not know what I would do without him.  
Andrea  M Trupiano

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