PTC Therapeutics has just announced data from the very first study which examined how taking care of a child diagnosed with aromatic L-amino acid decarboxylase (AADC) deficiency can impact caregivers.
This data was presented at the Virtual ISPOR North America 2021 Conference.
AADC-d is an ultra-rare condition which is ultimately fatal. It causes delays in, or inability, to reach developmental milestones like sitting, standing, walking, and even head control. Patients necessitate lifelong care.
AADC-d impacts every facet of life for patients- behavioral, mental, and physical.
Other symptoms include:
- Seizure-like oculogyric crises
- Sleeping issues
- Respiratory infections
- Gastrointestinal issues
Unfortunately, there are no treatments currently available to treat AADC-d. However, symptoms can be managed with therapies such as speech, physical, and occupational therapy, and potentially surgery for some complications of the condition such as scoliosis.
Sadly, this condition is very undiagnosed. It is also often misdiagnosed as cerebral palsy or epilepsy. This can lead to a delay of proper symptom management.
This study demonstrates the average caregiver of a child with AADC-d spends 15 hours a day providing care. Almost every moment they are awake, they are caring for someone else. This care includes practical care, administrative tasks, attending appointments, and emotional care.
This care often requires them to leave work (75% of all caregivers) or significantly reduce their hours.
55% document that they need additional help to care for their children. For most, partners provided extra support of 37 hours a week. For those who also had paid support, they received an average of 27 hours of help per week from either a nursing assistant or a registered nurse.
The burden of caregiving is not an uncommon plight for those caring for individuals living with a rare disease, and it is something that needs more research and attention.
This study further demonstrates the need for an effective therapy for AADC-d, and the benefits such a therapy could also bring to caregivers and their patients.
The data from this study was presented at the Virtual ISPOR North America 2021 Conference.
You can read more about this study and its findings here.