Hi my name is Vincent Gaynor.
My beautiful wife Catherine and I had tried unsuccessfully a few times to have a child. But finally on Feb. 27 of 2009 all our prayers and dreams had come true. My wife gave birth to the light of our lives, our precious angel Sophia.
She was just a perfect baby. She had all her fingers and toes and she was just beautiful.
At about 2 weeks we started to notice something was wrong. Sophia wasn’t moving as much as we thought she should and it was dismissed by our pediatrician as she was just a lazy baby. By the time 5 weeks came around the doctor suggested we have her tested for a neurological disease called Spinal Muscular Atrophy. After a grueling 2 weeks of waiting the results came back and my daughter tested positive.
There are no words to describe the feeling of helplessness we felt. The child that you have waited your whole life for would be taken from you in six months and she could last 2 years if you are extremely lucky.
SMA is a degenerative disease that affects 1 in 6000 babies. Approximately 1 in 40 people carry the gene. There is no cure for SMA and there is no proven treatments to help slow the progression of the disease. Slowly my daughters body will begin to fail her. Her body does not produce a particular protein which enables the nerves in her spinal cord to survive.
Eventually the muscles she has that were produced while in the womb will start to atrophy without the nerves to control them. She has a deletion of the Survival Motor Neuron 1 (SMN1) gene. Eventually she will lose her ability to swallow and she will also lose her ability to breathe on her own. My beautiful baby girl will never be able to lift her head, sit up, roll over, crawl or walk like any other normal child. The devastation my family has faced cannot possibly be put into words.
We just drove from New York to Wisconsin to see the leading SMA Pulmonologist in the country. The drive took 16 hrs each way but we did not have the option of taking a 2hr flight because the atmospheric pressures could collapse her fragile lungs and she could die in flight.
Sophia requires around the clock care and treatments, but she is a very bright and happy baby. Her mind is not affected by this horrible disease. Through it all our beautiful daughter continues to smile everyday and inspire not just us but people all over the world.