The study portrays the intense need for daily care experienced by children with aromatic L-Amino acid decarboxylase deficiency (AADC-d) and their families.
Parents or caregivers of children with the rare, genetic, fatal disease aromatic L-Amino acid decarboxylase deficiency (AADC-d) spend nearly all their waking hours caring for these children, often to the point of having to quit their jobs, according to posters presented recently at the Virtual ISPOR North America 2021 Conference.
AADC-d results in delays or failure to reach developmental milestones such as head control, sitting, and standing and walking. Caregiving needs are constant and lifelong, and there are no effective treatments.
The qualitative interview study was conducted in the United Kingdom with 12 caregivers of 11 patients, who were mostly male with a mean age of 7 years. Results showed that primary caregivers spent on average 15 hours a day (mean of 105 hours per week) on practical and emotional care and carrying out administrative tasks like planning and attending appointments.
Most (75%) left their jobs or greatly reduced their working hours; 55% needed additional help, either paid or unpaid. Unpaid help usually came from a partner who provided, on average, 37 hours of help a week (range, 8-93).
Paid help from a registered nurse or training nursing assistant usually amounted to about 27 additional hours of help per week (10-35 hours). The authors said the cost for paid help came from the family’s own funds or from the National Health Service.
Reflecting that this condition remains largely undiagnosed or misdiagnosed (symptoms overlap with conditions such as cerebral palsy and some forms of epilepsy), caregivers reported that they saw a mean number of 8 clinicians before finally arriving at a diagnosis 19 months after the first symptom appeared.
Affected children can experience episodes of distressing seizure-like oculogyric crises, which is a spasmodic involuntary movement of the eyes upward into a fixed position; difficulty sleeping; and life-threatening complications such as respiratory infections and gastrointestinal problems.
Four of the children had no motor function at all and were tube fed, while 75% were able to eat pureed foods.
The study was funded by PTC Therapeutics, which has developed an investigational gene therapy, PTC-AADC, to rectify the mutation in the dopa decarboxylase (DDC) gene, which causes the disease. The AADC enzyme is responsible for the final step in the synthesis of neurotransmitters dopamine and serotonin.
Buesch K, Williams K, Skrobanski H, Acaster S. Caring for an individual with aromatic L-amino acid decarboxylase (AADC) deficiency: analysis of reported time for practical and emotional care and paid/unpaid help. Presented at: Virtual ISPOR 2021; May 17-20, 2021. Poster PRO51.