My Story

Almost three weeks ago my 7 year old son Gavin was diagnosed with an incurable disease called Adrenoleukodystrophy. On April 27, 2002, when I was only 15 years old, my son Gavin was born. Gavin has always been a healthy and outgoing boy, but in June 2009 we had noticed a difference in one of Gavin's eyes. It was beginning to look unfocused. After taking him to the doctor there was some concern with his vision and he was referred to an eye specialist. We assumed he may need glasses. Over a month later, after returning from a summer vacation, we noticed that his hearing wasn't the same. We thought this was from the plane, but as a few days went by it seemed to be getting worse.  
Gavin has always been a very active child with a somewhat low attention span. He is an very intelligent child. This past year we had moved to a new city and Gavin had started going to a new school. His grades and his attention span had been lower than usually, but again, we made an assumption; that this was because of stress from the move.
On August 31, 2009 I took Gavin to the emergency room because he was not himself and seemed very confused. After a blood test and CT scan an emergency appointment was made for him to see Dr. Meaney, a pediatric neurologist at McMaster Children's Hospital. On September 1, 2009 Dr. Meaney examined Gavin and diagnosed him with childhood cerebral ALD. He told us about this disease and how it would continue to cause Gavin's brain to deteriorate and shorten his life. He also told us about treatments that may help slow down the disease such as Lorenso's oil or a bone marrow transplant. 
On September 8, 2009 I brought Gavin to see a metabolic specialist at Sick Kid's in Toronto. Dr. Raiman confirmed the diagnosis and told us that it is too late to treat Gavin with Lorenzo's oil because he has already begun to show neurological symptoms. 
He did not leave us with much hope of slowing the disease with a bone marrow transplant at this stage either, but this will be confirmed with further testing. 3 days after our visit with Dr. Raimen I received a letter in the mail explaining the progress of Gavin's symptoms and that his life expectancy would be shortened to within 5 years. It informed us that Gavin will need an MRI and a neuropsychology assessment to identify if he is suitable for a bone marrow transplant, but it would be likely that the disease would progress during this procedure and deteriorate his hearing and vision completely. 
Since then we have seen a genetic specialists regarding the cause of this disease. I have been told that this is something that has been passed through my genes and I am currently awaiting tests results to tell me how I may be affected.
Because of deterioration of Gavin's coordination and attention he can no longer ride his bike and has a hard time playing with other children his age. He is still attending school with one on one assistance so he can continue to feel normal. We are making the most of our time left with Gavin and spend every moment making sure he feels happy and loved. We are still awaiting further testing to find out if a bone marrow transplant is possible.