pre mature

Johns Hopkins

As soon as we knew there was something terribly wrong with Amanda we searched for the best Doctors in the USA who had experience with SMA.  We found a couple, and the quickest appointment we got was with Dr. Thomas Crawford in Johns Hopkins.  From my side of the family there is SMA, however, we did not know it was SMA and that the gene could be passed and passed along generations.  I have two first cousins with SMA type 2/3, they are 41 and 33 years old, and at the time they were born little was known about SMA.  When the gene was discovered my family had stopped trying to find a miraculous cure and just lived.  When we heard muscle weakness we immediately realized it most likely was the same disease.

We were all crushed.  My mind started to relive my childhood and adolescence with my cousins, and even though they live a FULL life, it is still difficult.  I remember asking my aunt and uncle what had their teen years been like and I would suffer imagining how difficult my baby’s life would be.  But, I kept reassuring myself, “they were born 40 years ago and medicine has changed so much, there will be something to help Amanda, plus, she is so young we will be able to manage the symptoms before she gets weak”.  My worst case scenario, were my cousins…little did I know what we were about to learn at Johns Hopkins.

Dr. Crawford asked us a few questions and examined Amanda.  Then he said, “unfortunately these babies don’t live past their second birthday, and Amanda is weaker that average, so she will most likely die before her first birthday”…just like that.  There I was thinking about Amanda’s teen years, and she wasn’t even expected to live past her FIRST birthday.  We asked about all the drugs we had been researching, about gene therapy, about stem cells, and all he said was, “I am sorry, all of that will be too late for Amanda”.  He advised us to go home and love her and make her comfortable.

We left the hospital and all we could do was cry.  I held Amanda and just cried, and cried, and cried.  No one should ever have to hear those words.

Amanda at Baltimore

We also went to DC for my Birthday on Oct 22nd

At the airport going back home

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