My Story

By my sixth month appointment - even my doctor was a little concerned and recommended that I have a gross motor evaluation test.  So Mommy took me to get the test.  The physical therapist thought I was like a 2 month old in development, so he told my doctor that we should do an MRI.  After a few anxious weeks, we got the results of that test -- and that all came back normal.  We then waited to see a neurologist to see what other tests we might do to find out what was going on.  But it took another month to get that appointment.  So finally on May 7, we saw the neurologist.  He took one look at me and noticed my tongue fasciculation.  He knew then that I had SMA.  He told my parents that he had to do a blood test, but that he was 70% sure I had Spinal Muscular Atrophy.  He told my mom and dad his concerns and told us to go read about it on the web.  He didn't give us too much hope.  Mom and Dad left his office in disbelief.  What is SMA and what would this mean to their precious baby boy?

My parents immediately discovered the Families of Spinal Muscular Atrophy (FSMA) website www.fsma.org.   And through other networking as well as FSMA, they had the opportunity to talk and meet several other families with SMA in the area.  The people we met were able to give us hope and start us on the path to Dr. Bach and his NIV protocol.  But even before we met with Dr. Bach, the Doctor and nurse at Children's Mercy told us about this option.  It gave us such hope. We flew out to Newark to meet Dr. Bach.  He reaffirmed our decision to start using the NIV protocol. 

We then had the opportunity in June to go to Chicago for the Annual FSMA conference.  There we met even more wonderful families dealing with this awful disease.  But it's these people who give us such help, guidance and support and that is wonderful.  It's the best group of people and we are lucky to have their support.

My parents use the cough assist machine twice daily along with the suctioning machine to help keep me healthy.  So far, I've been great.  I've started using the BiPap machine, but not religiously nor consistently.  It's something we all know we have to work on.  I also have physical therapy, water therapy and occupational therapy several times a week.  I have such great people in my life!  That's my story.  I'm 13 months and growing bigger and bigger every day.  I love my parents, sister, grandparents and family.  I have fun, laugh a lot and flirt with anyone I can find.  Please visit often and keep up to date.

Ok -- to add something new.  I'm now 16 months old.  I had a g-tube placed proactively along with a Nissen on October 21.  The surgery went well.  We went up to Madison to work with Dr. Schroth and her team.  Everything was great.  All of the staff and doctors were wonderful and I was home, happy and healthy in record time :0)  I now use my feeding tube only at night so I can sleep all night on Bi-Pap.  All is well!  

Ok -- another update.  I'm now a big two year old!  I love to talk and sing.  I also stopped wanting to eat anything by mouth back in June.  So now I "eat" everything via my g-tube.  I'm also a total BiPap prince.  Meaning, I sleep all night with it on and sometimes even during my nap.  Life is good.  I love my big sister Lily and playing with her.  Hugs!

Ok -- So we are a little, um a LOT, behind in updating my story. Maybe Mom will go back and add information later about the major changes since age two. Now I'm eight years old and loving life. In addition to my big sister, Lily, I'm now a proud big brother to Emma Rose. Perhaps "proud" isn't the right word for our relationship but suffice to say we, along with Lily, are really good at keeping Mom and Dad on their toes and love each other despite our sibling rivalry.  I have had several spinal surgeries, one every six months or so, and I am growing up tall and very straight. I have a lot of friends, am an active Boy Scout, and, like many eight year olds, tolerate school work. I love video games and would play all day if Mom would let me. We recently moved to new house that my parents designed to be accessible for me in my power wheelchair. We're all still getting used to the new surroundings but so far we are all very happy with our new home.

High Fives and maybe a few Hugs,