Charlotte Jameson's Battle with Batten Disease CLN2
Initial symptoms in Charlotte Jameson, then three, included seizures, which were initially thought to be Epilepsy. When Charlotte did not respond to Epilepsy medication, subsequent tests identified her condition as Childhood Dementia, specifically Batten Disease CLN2.
Batten Disease CLN2: A Devastating Diagnosis
Batten Disease CLN2 is a rare and fatal genetic disorder. It typically manifests between the ages of two and four, causing severe neurodegeneration.
Professor Susan Maloney, Director of Paediatrics at Gold Coast University Hospital, stated that the disease is characterized by a missing gene responsible for specific protein and carbohydrate formation in the brain, leading to progressive brain degeneration.
Prognosis and Progression
The condition leads to a decline in motor skills, vision loss, and speech impairment. Patients often become bed-bound by age ten and are generally not expected to live past 14 years. Charlotte has recently turned five.
Rarity
There are only a limited number of children diagnosed with Batten Disease CLN2 in Australia.
Treatment, Awareness, and Family Advocacy
Charlotte undergoes fortnightly brain infusions at Gold Coast University Hospital to slow the disease's progression. Currently, there is no cure for Batten Disease CLN2.
Raising Awareness for Childhood Dementia
Charlotte's family, including her mother Sarah Jameson, is sharing her story to increase public understanding of Childhood Dementia.
Sarah Jameson noted that cases of Childhood Dementia are as prevalent as Childhood Cancer, but it is a universally terminal diagnosis.
The family has established a GoFundMe page to support Charlotte's "bucket list" experiences.