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Simon’s Story
Written by Marcus and Brenda Rosenau

On June 29, 2012, we received the news that Simon was diagnosed with adrenoleukodystrophy, or ALD. ALD is a rare genetic disorder (affecting one in 21,000 males) characterized by the inability of the body to break down “very long chain fatty acids” (VLCFA). In the cerebral variety of ALD (which Simon has), VLCFA build-up in the brain causes breakdown of the myelin sheath (de-myelination) around the nerve cells. Myelin is the protective coating around all nerve cells which helps maintain the signal between nerve cells (much as insulation improves the conduction of electricity in a wire).

Cerebral ALD most often manifests itself in childhood, appearing in boys between four to ten years of age. Early physical symptoms include increasingly awkward walking, loss of coordination, and impaired vision and hearing. Ultimately, boys will no longer be able to talk, eat or move and will deteriorate into a vegetative state. Life expectancy, on average, is 2 to 5 years after diagnosis.

There is no known cure for ALD, but there has been some success with bone marrow transplant (BMT) in stabilizing progression of the disease if it is caught early enough. Simon’s case was somewhat advanced, placing him in a high risk category. We decided to proceed, and on September 27, 2012, Simon received his bone marrow transplant using stem cells from cord blood. Unfortunately, his own cells returned – instead of the new cells – and another transplant was required. The second bone marrow transplant occurred just after Christmas on December 27, 2012, and as of mid-May, 100% of the blood cells being produced are from the new stem cells.

caring bridgePlease visit Simon’s Care Bridge Site which was created to keep friends and family updated.

For local events and fundraisers that will support Simon, and others, in the fight against ALD please follow Sunshine for Simon support page

 

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