Gene/Diagnosis: AARS2 (LKENP, Leukoencephalopathy with Ovarian Failure)
Type of Disease: AARS2 ovarioleukodystrophy is a rare potentially terminal brain disease & is linked to ovarian failure, but also can affect other parts of her body. Currently, 1 of approximately 40 diagnosed in the world (that we know of).
Current Age: 3 years old
Symptom Start/Age of Diagnosis: Symptoms started at 11 months old. Normal development prior to the start of symptoms. In November 2020, Aubrie was diagnosed at the age of 2.5 years old.
Current Symptoms: Hypotonia, muscle weakness, neuropathy, intermittent strabismus, nystagmus & ataxia, frequent infections, intermittent neurological regression associated with fevers & gross motor developmental delay.
Interventions: Mito Cocktail (11 components) 2x/day, receives physical therapy and has shoe orthotics. She regularly sees a metabolic specialist, leukodystrophy specialist, genetics, neuro-opthamologist, cardiologist and ENT specialist. Aggressively treating fevers to reduce neurological regression. There is no FDA approved treatment or cure. Intervention is based on symptom management.
Aubrie Bella Rowland was born on June 18, 2018. Up until 11 months old, Aubrie was a happy & healthy baby with no noticeable signs of serious illness. In May 2019, she started having seizure-like symptoms every time she had a fever. Her eyes would cross or jerk back and forth, and she had issues holding herself up to sit, stand or walk. We later learned the medical term for these episodes are called, "neurologic regression" or "metabolic regressions". She remained alert during each episode and could carry on a conversation with you. As soon as her fever came down, the symptoms would resolve back to normal. She had a walking delay (started walking at 21 months), balance issues with frequent falls, low muscle tone, chronic infections, 3 minor surgeries and she is anemic. After about 18 months of trying to get an answer for Aubrie, we received the devastating news of her diagnosis in November 2020.
We left the doctor’s office that day with a lot of emotions - from tremendous sadness, fear, anger, denial, frustration but this quickly turned into a steadfast determination to find a way to help Aubrie - and to stay hopeful. We had to remind ourselves that Aubrie needs us to stay positive.
Right now, most people would not immediately know something was wrong with Aubrie. Many of her symptoms are more obvious when she is tired or sick. Aubrie is a child who has a love for life, always trying to make others smile and laugh, and she has a determination to learn and grow. We will keep going, keep fighting and keep believing in her against what feels like impossible odds.