Aidan was having some vision problems starting in late March 2011.
He was doing really well in school. The only problem was he was reading and writing really close to the page. Two ophthalmologists we had visited with said he had 20/20 vision. The latter explained how sometimes when children are learning to read and write they may have a tendency to read and write close to the page, and they have to be reminded not to.
During a physical review by the neurologist, he felt there was nothing wrong with Aidan, but we ordered an MRI to make sure. Then neurologist explained it could be this disease called ALD because of the white matter found on the MRI. We never heard of this disease nor did we know what this meant.
Adrenoleukodystrophy (ALD) is a rare, inherited disorder that leads to progressive brain damage, failure of the adrenal glands and eventually death. ALD is a disease in a group of genetic disorders called leukodystrophies. Adrenoleukodystrophy progressively damages the myelin sheath, a complex fatty neural tissue that insulates many nerves of the central and peripheral nervous systems. Without functional myelin, nerves are unable to aid in the conduction of an impulse, which leads to increasing disability. The only way to stop the progression of the disease is with a bone marrow transplant.
We did not want to waste a precious moment, so we booked a trip to the University of Minnesota Hospital to receive further testing. From June 13th to June 18th, Aidan went through a battery of testing, and we received the results that he had ALD. We waited to hear what the results were for a bone marrow match. Aidan’s sister Sienna got tested (one in four chance she was a match), and the results came back that she was not.
We had to go with an unrelated umbilical cord blood match. We opted to go with Duke University Hospital as it had more experience with bone marrow transplants and was able to get Aidan in sooner. Aidan went through nine days of chemotherapy to prepare him for the new donor blood he was to receive.
On July 21, 2011 (also Aidan’s 7th Birthday), he received his bone marrow transplant.
We got the amazing news that he was engrafted with new cells 12 days later and his white blood cell count was going up. On August 16, 2011, Aidan had a reaction to one of the medications he was taking called Cyclosporine, which resulted in him being unresponsive: not talking, walking or eating. The doctors said this was a reversible condition called Posterior reversible encephalopathy syndrome (PRES). But, since Aidan was already symptomatic (with the effects of chemotherapy and the disease progressing), all took its toll.
Aidan lost his vision, hearing and ability to eat, walk and communicate. After 10 months in the hospital, he lost his life on April 29, 2012.
If New York and the rest of the nation had ALD added to Newborn Screening, Aidan and so many others could have been saved. We have witnessed the miracles of children who have undergone bone marrow transplants before the onset of symptoms and are perfectly healthy today. ALD is often misdiagnosed, and much time is wasted. We are asking for signatures to petition for ALD to be added to the Newborn Screening list both in New York State and nationally. These children can be saved if they are aware of the disease and it can be monitored.
Please visit our causes to learn more: https://www.thepetitionsite.com/842/717/237/add-ald-to-newborn-screening/ and https://www.causes.com/ALDNewbornScreening.