On May 4th of 2010 we learned that our son Anthony, now 7 years old, has a very rare genetic disorder called X-linked Adrenoleukodystrophy or ALD. Since this is an x-linked genetic mutation that is passed to boys from their mothers, we then needed to test our other son Joey who will be 3 years old on March 13th. His results came back positive for ALD as well. ALD can be devastating for young boys, it can render a boy totally disabled followed by death if it is not detected early enough. Ultimately, the adrenal glands can malfunction causing Addison’s disease; and the myelin sheath that surrounds the nerves of the brain can be destroyed causing neurological deterioration.
Our family is very fortunate in that our son Anthony has a very wise grandmother who knew about Addison’s disease. She was aware that one of its symptoms was having an ‘all-year-round’ tan, medically known as hyperpigmentation. Anthony had a gorgeous tan since the age of two; he would become particularly dark in the summertime. His grandmother started expressing concern, stating that we should investigate his tan; suggesting that it may not be his Italian roots causing him to be so golden.
It was Anthony’s diagnosis of Addison’s disease that led us to ALD. As a result of the adrenal glands being a part of the endocrine system, we were referred to a Pediatric Endocrinologist. Our son’s new specialist was diligent in finding the reason for his adrenal failure; she knew that any young male diagnosed with Addison’s disease needed to have ALD ruled out as the cause. We are so very blessed that Anthony’s only symptom of ALD right now is Addison’s disease; and Joey currently has no symptoms. We monitor them both every six months with MRI’s of the brain to detect the onset of any loss of the myelin sheath.
There is no cure for ALD, and once the myelin begins to deteriorate the only option is a bone marrow transplant to try and arrest the progression of the disease. Currently, the Kennedy Krieger Institute at Johns Hopkins Hospital in Baltimore, Maryland conducts a clinical study involving Lorenzo’s Oil therapy for ALD boys who have normal MRI’s. It is believed that boys with no cerebral involvement, who take Lorenzo’s Oil along with a low fat diet, will reduce their risk of developing any cerebral involvement by 30%. We had the opportunity of enrolling into this study in February of 2011. Miracle Flights funded our second trip to Baltimore on March 12, 2012. We are so grateful and thankful for their generousity.