My Story!

(written by my mom, Jennifer)

(It’s a little long.  The past seven years have been an incredible journey!) 

We welcomed Joshua Adam Tramontano into this world on December 14, 1998.   Joshua was born two and a half weeks early.  We had our Christmas tree up and decorated, but I didn’t have my bag packed for the hospital!  After a very easy and short delivery, we were thrilled to finally meet our little boy, our first baby.   He was absolutely beautiful.   

Aside from the unbelievable colic, Joshua seemed to be developing like your average, healthy baby.   He reached the very early milestones of rolling and being able to sit up on his own.

Around nine months, we began to notice that Joshua was no longer meeting some of his gross motor milestones.  He never crawled.  He never tried to pull himself up to a stand. We noticed that his legs seemed very “floppy.” He also developed a fine tremor in his hands that became worse if he became nervous or excited. 

As first-time parents, we were concerned; however, we were repeatedly getting reassurance that everything was fine, and he would be off and running in no time.

After Joshua’s 12 month checkup, we were referred to a pediatric neurologist, as well as sent for some bloodwork. The bloodwork did not include a test for SMA.  We were relieved when the bloodwork came back normal.

We left our first visit to the neurologist with a referral to Birth-to-Three and an appointment for an MRI.  Again, we were relieved when the MRI came back with normal results.  Once again, we were reassured that with a little encouragement and early intervention services, Joshua would be off and running very soon, and that he would walk.  We had to come back to the neurologist in three months.                                                                                                           

Joshua started receiving physical and occupational therapy in our home  two times a week. 

After Joshua’s 15 month checkup, our pediatrician admitted that he was “stumped.”  Joshua was not making any progress toward reaching his gross motor milestones.  In fact, his percentiles had dropped considerably and he had very low muscle tone.  Our follow-up visit to the neurologist was moved up a couple of weeks earlier.  The reassurances that everything was going to be okay seemed to be fading away.

At this next visit to the neurologist, we were referred to Boston Children’s Hospital for some testing – specifically an EMG.  The doctor wouldn’t tell us specifically what she was looking for. We live in Connecticut.   We were being sent to Boston for testing.  The words “neurological disorders” and “neuromuscular diseases” were being thrown around.  We knew this was serious.  Our perfect little world seemed to be quickly falling apart....

So, on May 16, 2000, we set out for Boston Children’s Hospital.  I can still hear Joshua screaming as he was being poked and prodded during the EMG testing.   This was the day we learned that Joshua had Spinal Muscular Atrophy, Type II.  This was the day the neurologist looked us in the eyes and told us our beautiful little boy was going to die – the same neurologist who, four months prior, told us Joshua would be off and running in no time at all.   

This could not be happening to our beautiful little boy.  This was not what we had hoped and dreamed for.  It is impossible to put into words what we were feeling at this time.  I won’t even try to describe it.  Unless you have been through it, you simply could not understand.

We had never heard of Spinal Muscular Atrophy.  There is no history of this disease in our family.  Of course we began to try and find out all that we could about SMA.  We began by contacting the National office of Families of SMA.   I can still hear Audrey Lewis’ voice.  I can still hear her saying that our son is type II and he is not going to die before his second birthday.  Although Joshua would never walk, we learned that the prognosis was not as grim as the neurologist portrayed it to be.

So, this is where our journey of life with SMA began.   Little by little we started learning all that we could about SMA.  We started by visiting Dr. Bach in New Jersey.   We left our first visit with Dr. Bach with  prescriptions for a pulse oximeter and a Cough Assist.  The pulse oximeter is used to measure Joshua’s oxygen saturation levels when he is sick.  Because Joshua has respiratory muscle weakness, he does not have a good, strong, productive cough.  The Cough Assist helps him cough and helps to keep his lungs clear.  

Next began the equipment....  Because Joshua cannot walk, it is important for him to stand and weight bear on his legs.  Joshua’s very first piece of durable medical equipment was a manual “Sprout Standing Dani.”    He got this stander when he was only 17 months old.   Joshua was so very proud to be able to move about in his stander.   In June of 2003, Joshua got a new power Standing Dani.

Next came his power wheelchair.   Joshua was fitted for his power wheelchair when he was two years old.   It was truly amazing to watch Joshua in action in his “wheels.”  Within five minutes, he was off and running.   His first set of “wheels” was delivered to us in September of 2001 – September 11, 2001, to be exact.  I remember thinking this day was going to be so sad.  We were not anxiously awaiting the arrival of a power wheelchair for our two-year-old little boy.  We thought it would be so sad.  Boy, were we  wrong.  The look on Joshua’s face was absolutely priceless when he took off in his wheels.  He was thrilled to be independent.  He was thrilled to be out in the yard, smiling and laughing, and chasing bubbles.   This was the day we got to experience the joy of Joshua taking his first steps.   In the end, September 11, 2001, turned out to be such a sad day for reasons other than Joshua receiving his first power wheelchair.  I remember tucking him in that night, giving him an extra hug and kiss, and being so thankful he was safe at home with both mommy and daddy.

Life with a toddler in a wheelchair took some adjustment and getting used to.  I have to admit those first few trips to Stop & Shop and Wal-Mart were quite challenging.   The transition from stroller to wheelchair was a difficult one.  When Joshua was being pushed around in his stroller,  people would always comment on what a beautiful little boy he was.  Once he was using a power wheelchair, people saw the wheelchair first and then the little boy.

Like most kids with SMA, Joshua was a pro at driving his wheels in no time at all.   When you’re out in public with an adorable little toddler in a power wheelchair, it seems as though you become public property.   Boy, if we had a dollar for every time we heard, “Boy, he sure is a good driver,” or “You better slow down, or you’ll get a speeding ticket,” we could have raised lots of money for SMA!  

Joshua, however, was truly amazing.  He just loved his new-found independence.   Soon enough, the wheels became part of our everyday routine.  This is what’s normal for us.  Some parents chase after their kids who run around on two feet, we just chase after Joshua in his wheels.

Soon it was time for Joshua to go to preschool.  Once again, Joshua was truly amazing.  The first day we dropped him off, he was like, “Bye, mom.  See you later.”   Within two weeks, he wanted to take the bus.  I remember that first day sending our three-year-old little boy off to preschool on a bus with his power wheelchair and my heart being ripped out of my chest as the bus pulled away.  Now, Joshua is in first grade at West Woods School.   Going to school is part of his everyday routine like any other seven-year-old.  Joshua has many friends, goes to many birthday parties, goes on field trips, and participates in everything that all of the other kids do.  

Soon after Joshua was diagnosed with SMA, we became actively involved in fundraising and spreading awareness about SMA.  We attended our first Families of SMA conference three weeks after Joshua was first diagnosed.  We spent the weekend walking around like deer with their eyes caught in the headlights.   As difficult as it was to attend this first conference so soon after being diagnosed, we were so grateful we did.  We met so many remarkable families and formed many friendships.

In September of 2002, we started the Connecticut Chapter of Families of SMA.  I was president for two and a half years.  Joshua’s dad is currently the vice president.  We have helped raise over $150,000 since Joshua has been diagnosed and will continue to be part of the effort to find a cure for SMA!!!!  We will fight the fight until WE WIN!!!!! 

In March of 2004, Joshua became a big brother, welcoming Daniel Ryan Tramontano into the world.  Daniel is now two years old and is SMA free.  (Please visit Daniel’s link for his story!)

Joshua is now seven years old.  We can’t believe seven years have gone by.  He seems to be growing up so fast.   Joshua is a happy a little boy. He is living a happy life.  He has a brilliant mind.    

These past seven years have been an incredible journey.  After receiving such a life-changing diagnosis, we soon discovered a new-found happiness.  We no longer sweat the small the stuff.  We celebrate every accomplishment!   We realized Joshua was sent to us for a reason.  He is truly a gift.  He has taught us more these past seven years than most people will ever learn in a lifetime.  Naturally, if given the choice, we don’t think we would have chosen this path of life with SMA.  Some days it seems like a long, uphill journey.  While other days, it’s smooth sailing.  One thing’s for sure, we have been blessed to meet some truly incredible people along the way that make the journey that much easier!

Please be sure to keep us in your thoughts and prayers – praying for a miracle, because we sure could use one.....





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