Noah Rylan

This is a blog post about Noah’s disease.

The adorable little boy in the picture above is my nephew, Noah. Noah is currently a year and a half old. Shortly after Noah was born, he was diagnosed with Adrenoleukodystrophy, otherwise known as ALD. They found this out through a newborn screening. ALD is a rare, genetic disease that causes the build up of very long chain fatty acids in the brain. When build up of very long chain fatty acids occur, it destroys the protective myelin sheath around nerve cells. The nerve cells are what allow us to think and control our muscles. Essentially, this disease causes the nerves to no longer relay information to and from the brain. ALD most severely affects boys and men, and usually start to show symptoms of ALD between the ages of four and ten. The symptoms of ALD include: behavioral problems, poor memory, bad school performance, vision problems, poor coordination, difficulty swallowing, unable to speak or respond, deafness, and seizures. My family is blessed that we have not seen any of these symptoms with our Noah yet. My family is extremely lucky that the doctors were able to catch this disease as soon as they did. With a disease like ALD, the sooner one is able to catch it, the better. It is extremely difficult, as an aunt, to know that a baby that is not even two years old yet, has been diagnosed with such a serious and life-threatening disease. Every day my family counts their blessings because a lot of families are not aware of the disease until the person who has it has started to show symptoms. Once a person with ALD starts to show symptoms, it is highly unlikely that they will ever gain that function back again. My family and I savor every moment my family has with our precious Noah, and we are extremely thankful that we are aware of his condition at such an early age so that we can be prepared for what is to come next.