Are you newly diagnosed?

by Shannon Reed

Amera is our sweet 3 year old daughter who battles an extremely rare genetic disease called ACER3 related early childhood onset progressive  Leukodystrophy. There are only about 20 known cases of this type worldwide! 

Our daughter was diagnosed with this progressive disease at age 2. She was initially presumptively diagnosed with other conditions as doctors were baffled by her developmental regression. Her diagnosis came after nearly a year and a half of invasive testing, procedures and ultimately, genetic testing for our whole family. Her father and I are both carriers of the gene mutation. We have two other boys; one of which is also a carrier. She was born a healthy full-term newborn and seemed to be developing normally until around age 9 months. She was crawling, babbling, walking behind a toy walker, and self feeding. Over the next year and a half, the disease would cause severe regression, rendering her unable to walk, crawl, or even sit unassisted. She no longer talks. She is dependent on feedings through a gastrostomy tube, as she has trouble swallowing. Despite the regression, her fighting spirit and fun personality live on. 

Little is known about ACER3 related early onset progressive Leukodystrophy. There is no known treatment or cure for this terrible disease. Life expectancy is less than 13 years. BUT- that we can change! Research is ongoing, and much-needed to gather insight into this rare disease and begin exploring potential treatments.  Awareness can help spur more interest and support for the research and development of potential treatments.

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