Anatoia's Fight Against Alexander Disease

Anatoia was a little different from the day she was born. A rare soul. In a family of three older, boisterous boys and a younger sister, she remained quiet and kind, with so much unconditional love to give. But just recently her family discovered that she was rare beyond their own knowledge.

At just seven years old, Anatoia has been diagnosed with Alexander Disease. One of only 500 people in the world to have been diagnosed with this life-changing disease since 1949.

Anatoia was first diagnosed with Autism and Global Development Delay at a young age. But, following a serious seizure at the start of 2018 more investigation ensued.

An MRI scan discovered that Anatoia was suffering from something much worse. An extremely rare, usually progressive and fatal neurological disorder with no known cure - Alexander Disease.

It is among the Leukodystrophies family. A group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain.

There is barely any knowledge of Alexander Disease as a whole, and little help can be offered to those families in New Zealand affected by this incredibly rare condition. But, for the first time in over 10 years, the most knowledgeable researchers in the world will meet in one place - The Alexander Disease Family Conference. Held in Madison, Wisconsin at the Waisman Centre in August of 2018, the latest research will be shared with health professionals and affected families alike.

Not only does this give Anatoia and her family a chance to meet other families living with Alexander Disease, it also allows them to network, build relationships and learn vital information they can bring back to New Zealand to aid any other families that get struck by this disease.

One of their primary goals is to build more awareness and support about this and other rare diseases that don't get the consideration they deserve. In the families own words, "You never think that these rare diseases are going to affect your family. But, if and when they do, you want acknowledgement, help and support."

This is a condition that deserves fighting for.

Anatoia's family asks for everyone reading this to help them build the awareness this condition deserves. Even if you can't help financially, share this page. Talk to your friends and whanau about uncommon disorders like this one.

Help Anatoia's fight against Alexander Disease.