Living With Alpers : Averie's Story: Update

Who is Averie?

Averie passed away Sunday November 13th at 3:33am due to complications of her mitochondrial disorder. My beautiful princess is finally healed and in heaven with her brother :)

Averie is a crazy, beautiful, smart energetic 7 year old who keeps everyone on their toes! Averie has been fighting Alpers since her first seizure in 2004 at the age of 4. Her older brother passed away from Alpers when she was just 1. Just recently she became a big sister for the first time! Averie is strong willed and stubborn...I believe that's what keeps her going on the days her disorder creates obstacles for her. She is my special little girl who I love one cow, two moons and three fences big!

Got here this morning and everything is going good. Slowly decreasing the Pentobarb. We started at 100mg/hr and now we are down to 40mg/hr. Blood pressure and all vitals are doing good as well. We will keep decreasing it over the next 24 hours. As we do we should see normal activity return to the EEG. Just continue to pray the seizures don't come back.

What is Alpers?

Alpers' disease is a rare, genetically determined disease of the brain that causes progressive degeneration of grey matter in the cerebrum. The first sign of the disease usually begins early in life with convulsions. Other symptoms are developmental delay, progressive mental retardation, hypotonia (low muscle tone), spasticity (stiffness of the limbs), dementia, and liver conditions such as jaundice and cirrhosis that can lead to liver failure. Optic atrophy may also occur, often causing blindness. Researchers believe that Alper's disease is caused by an underlying metabolic defect. A number of individuals with Alper's disease have mutations in the "polymerase-gama" gene, which results in the depletion of mitochondrial DNA.

Living With Alpers : Averie's Story

Averie Elizabeth

Who is Averie?

Saturday, August 13, 2011

Update

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