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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3 Comments

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3 responses to “Profiling SMARD: Anthony’s Story

  1. I hope they will find an answer for SMARD . I BELIEVE THAT IS IS NOT AS RARE AS THEY SAY . I BELIEVE MANY BABIES DIE BEFORE THEY ARE DIAGNOSED AND IT IS CALLED SIDS.There is much evidence to prove this and if they would acknowledged it it would bring more attention and more support to the research and cure . SIDS take more babies in the first year than anything else. SMARD I believe is one of the Silent killers we now called SIDS. My 6 month old Grandson has SMARD and barely made it to the hospital in time when he was around 7 weeks old . If my daughter had put him down for a nap he would have never woken up. He would have been a SIDS Baby.

    • Lisa

      Peggy,

      I agree with you, completely. SIDS essential means “unknown” because its a diagnosis by exclusion. As such, after the Medical Examiner runs all the routine tests without finding a cause, he/she calls the death SIDS.

      My beautiful daughter, Valentia, died from what at the time was called SIDS (if you look back to an earlier post you will see her story). I never believed she died from SIDS because she had NO risk factors, even though the medical professionals kept insisting she was a “true” SIDS case. I looked back to all the other SIDS cases in my county and there was not a single case in the past 5 years that did not have a risk factor (sleeping on tummy, sleeping in bed with parents, wedged in a couch, etc.). Valentia was the only baby to die in a separate sleeping device, on her back, without covers or toys in her bassinet, and we even had the ceiling fan on because we read that it prevents babies from re-breathing her own CO2 (another theory about what “causes” SIDS).

      I knew Valentia didn’t die from SIDS, so against the advice of the medical professionals (they said it would instill a false sense of security since SIDS can not be prevented) I enrolled our next born (Silas) in a sleep study to rule out undiagnosed apnea or Long QT.

      Purely by a miracle Silas stopped breathing at the sleep study and was immediately intibated which SAVED HIS LIFE! Once he was admitted into the hospital all the pediatric professionals who took care of Silas said there IS NO SUCH THING as SIDS. They tested Silas for an array of disorders that if not caught in time could be fatal and appear to be a SIDS death.
      After Silas was diagnosed with SMARD blood samples from our daughter was tested and it was confirmed that she too had SMARD.

  2. lidia

    wow amazing story andrea,anthony as been threw so much..little miricle

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