09/06/2026
Today is international batten disease awareness day!
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Mabel was diagnosed with an unknown form of NCL just 2 days after her 2nd birthday. There are many known forms of batten disease with several genes involved but Mabel’s form was never identified & to this day is still a mystery, medically speaking.
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Mabel had her first seizure when she was 2 weeks old. She was diagnosed with epilepsy at 5 months old & was started on her first seizure medication that same day. Her next EEG revealed that she was seizing 80% of the time- awake & asleep. At 6 months old, a specialized test confirmed that Mabel had retinal dystrophy, a confirmation that she was blind, or what vision she did have was minimal. Mabel never met a typical milestone & although she did eventually sit up on her own for a few seconds at a time & she did chew food for a short period, she quickly lost the ability to do both. Mabel was undiagnosed or misdiagnosed for half of her life & lived on hospice care for the second (much better) half of her life. Hospice care was the best decision we ever made. It brought comfort & allowed us to move through life with her...fully living. Along with a batten disease diagnosis came a devastating prognosis of between 4-6 years of age. Mabel died 6 weeks before her 5th birthday, making that statistic the first thing ever clinically accurate in her life.
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Throughout her life Mabel took a combination of medications with the help of a feeding tube including seizure meds, muscle relaxers, meds for anxiety & muscle contractions along with meds to help her sleep & to help keep her comfortable. She sometimes drank from a bottle, though it took a very long time & she choked often. She was limp like a rag doll at times, je**ed uncontrollably at others & could not sleep without sedation. Often she would cry inconsolably for days at a time. Her life, though I tried to make it the best I could, involved so much suffering.
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Batten disease caused Mabel's brain to atrophy, or quite literally, shrink. It stole her ability to swallow, see, be mobile, & eat. Eventually Mabel’s body stopped absorbing food & medications altogether. She was no longer getting the nutrients or the comfort she needed to survive. Batten disease stole so much from our darling girl but it never did steal her smile. In fact, after her last breath, her face formed a perfect grin & that is how we remember her.
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This week, please consider sharing Mabel's story & photo. Help us raise awareness so that we can continue the fight to help fund research that will one day lead to a cure for batten disease & other rare diseases.
www.bdsra.org
