Sophia Marie Hamza was born on March 14, 2008. A little sister for Grace, and a beautiful second daughter for Sarah and Tom, her birth was a straightforward one aside from the fact that she arrived in our joyful arms with a relatively common defect in the form of a cleft palate.

Beyond a special feeding regime, everything about Sophie was normal – those who passed her on the street would have noted only her captivating eyes and brilliant smile. In fact even her parents and doctors had no clue as to the battle waging within, until the surgery to repair her cleft led us to the genetics department and Toronto’s Hospital for Sick Children.

In the spring of 2009, Sophie was a happy, growing child who was developing normally. Her cleft had been determined to be unrelated to any genetic cause, and was judged simply as a hiccup along the amazing process of human creation. However, there were some features of concern. The doctors that examined her noted that her head was bigger than average and that her eyebrows were heavier than normal. She also had a big, full tummy, and most tellingly, was secreting heparin sulfate in her urine, a substance that shouldn’t have been there…

On November 10, 2009, following months of testing, Sophie was definitively diagnosed with MPS IIIB, or Sanfilippo Syndrome. Just as with the impossible bumble-bee, the impossible truth soon became our reality. Our little wonder had been born with a genetic defect that no one could have foreseen, and for which no treatment or cure currently exists.

We have seen Sophie’s condition affect her gradually. At six years old, she has lost most of her vocabulary, has impaired hearing, and has great difficulty sleeping at night. Her spirit remains strong however, and her infectious laugh and playful spirit touch her sister, family, teachers, helpers and schoolmates.  Her personality shines through, despite her increasing challenges.

The goal of Strides for Sophie is to raise awareness of Sanfilippo Syndrome and to raise funds for a cure. A solution is out there, but it requires funding to continue to bring the brightest minds to this problem.





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