AUSTRALIA FAMILY FACES ALD AND BONE MARROW TRANSPLANT

Aden was diagnosed with X-ALD at 18 months of age and the world as we knew it, fell apart. That was 5 years ago now and over the years we learned all we could about the disease and potential treatments. We learned to live in 6 month spurts (between MRI scans) and to enjoy that our son was happy and healthy even though a big, black cloud hung over our future as a family.

In July 2003, I took Aden to Sydney for his six monthly MRI scan. We heard nothing for 3 weeks and began to worry more than usual. After 4 weeks the neurologist called with the news that Aden's scan had shown a change. MRI scans detect the initial loss of myelin in the brain preceding the neurological deterioration characteristic of COCALD (childhood onset cerebral ALD). Follow up scans every 8 weeks showed that the lesion was increasing in size. The final scan in November showed further increase in size and gadolinium enhancement around the lesion. Since enhancement indicates a strong likelihood of disease progression, a decision was made to proceed with a bone marrow transplant. At present, this is the only treatment for COCALD. (editors note: Lorenzo's Oil is a proven treatment for helping to prevent the progression of the disease prior to symptoms showing.)

In late November, Aden was admitted to Westmead Children's Hospital in Sydney. My husband, Dallas, and our daughter, Jarrah, and I left behind our lives on the far north coast of NSW (Australia) and moved to Sydney to be with Aden, filled with a strange mix of fear and hope.

Aden had chemotherapy for 2 weeks in order to wipe out his immune system in preparation for the transplant. This was a difficult time. We tried as best we could to answer his question: "Why are the doctors making me sick?" He did become very sick. On December 11th, a bag containing a yellowish fluid was brought into his isolation room - the donor stem cells - and in 20 minutes, the transplant was over.

Aden was tired, weak and didn't smile very much. Christmas came and went. We waited and hoped. Finally, his white cell count started to climb! Slowly his platelet and haemoglobin levels increased too and he became more alert. His hair was falling out but the colour returned to his face. One month after transplant, a test showed that his blood cells were 100% donor - the transplant had worked!

It is now 6 months post transplant and Aden continues to go from strength to strength. He is back to the happy, cheeky boy we know and love. So far he has not developed any of the serious complications that can follow a bone marrow transplant. We came home in early March but are still living in relative isolation until his immune system recovers. He is looking forward to returning to school at the end of the year.

As a brand new future opens up for Aden and for our family, it is now that we can see what a strain living with leukodystrophy (even asymptomatic) has been. We are grateful also for the expert care that Aden has received from the medical team at Westmead Children's Hospital. Most of all our heartfelt thanks go to the generous, anonymous donor who gave our son a chance for a normal life.

The risks of a bone marrow transplant are huge. It is incredibly hard to make such a decision for a child but we know that it was his only hope and will always be thankful that he had his chance.

-Cathy