Josh DeBortoli (Vaughan, ON)

Sonia Girotto and her family know all too well the devastating impacts of aHUS (atypical Hemolytic Uremic Syndrome).  Sonia’s son, Joshua, a 12-year-old from Vaughan, Ontario, was diagnosed with aHUS in March of 2012.

At first, in 2006, Joshua was diagnosed with an autoimmune disease called Evans syndrome. Despite this, he lived a healthy life and without medication until 2012, when his mother Sonia noticed that the whites of his eyes were yellow. Within 24 hours, Joshua was completely jaundiced. He was admitted to The Hospital for Sick Children, where he spent five weeks (including one in the CCU) while the doctors there tried to stop his blood loss and confirm a diagnosis. It was aHUS.

While in hospital, Josh experienced life-threatening complications including internal bleeding, kidney failure, a blood clot, and underwent a kidney biopsy and surgery to insert a central IV line to continue receiving dialysis and plasmapheresis for several hours each day in order to combat the debilitating symptoms of aHUS.   He reached a point within his first week where he couldn’t speak, hold his head up or control any bodily function. He was placed on many medications while he was in the hospital, including prednisone (a steroid), blood pressure pills, medications to protect the lining of the stomach and two shots daily of blood thinners.

The light at the end of the tunnel came when Joshua’s doctor offered him the opportunity to enter a clinical study for eculizumab (Soliris), a medication shown to restore the health of aHUS patients. Soon after beginning treatment, Joshua’s condition improved dramatically and his kidney function was restored with little impact on his day-to-day life.

Before starting eculizumab, Joshua’s biggest wish was to return to school and be with his friends. At the end of April 2012, his wish came true.  Today, Joshua is involved in karate, soccer, and plays the drums.  This summer, he played baseball again and his team won the championship. For Sonia and her family, access to eculizumab meant that they got their little boy back – and, most importantly, Joshua got his life back. Now, they want the same for everyone who lives with this devastating disease. Sonia is an active advocate and board member of aHUS Canada, and she and Josh have shared their story with media.

Vaughan Citizen – March 7, 2013
CTV News Toronto – April 26, 2013

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