After a diagnosis of aadc deficiency
What to expect after your child has been diagnosed
Existing treatment approaches can help manage symptoms of AADC deficiency, but they do not address the underlying genetic cause of the disorder. These treatments have not been approved to treat AADC deficiency specifically, but they may help with certain symptoms.
Some of these treatments include:
- Vitamin B6 (pyridoxine): a vitamin that assists in the function of the AADC enzyme and may help to increase AADC enzyme activity
- Dopamine agonist: medicines that may help to mimic the function of , a neurotransmitter, and help to restore communication between cells
- Monoamine oxidase (MAO) inhibitors: medicines that help prevent the breakdown of neurotransmitters affected by AADC deficiency, making more neurotransmitters available in the body
Your child may receive additional treatments to help with certain symptoms, like stuffy nose, abnormal movements, or trouble sleeping. It may also be necessary to work with a physical, speech, or occupational therapist to prevent more complications and help with development.
Although there are treatments to help manage symptoms, currently there are no for AADC deficiency in the US.
What do you hope for patients and families impacted by AADC deficiency?
An expert talks about what he would like to see in the future for AADC deficiency management.
Your child’s care team
The team that will be assembled to help your child may include some of the professionals listed below:
- Pediatrician or general practitioner: a medical professional who specializes in the development, care, and treatment of children and their diseases
- Pediatric neurologist: a medical professional who focuses on studying and treating diseases and conditions that affect the nervous system of children
- Movement disorder specialist: a healthcare professional who has special training in disorders that affect someone’s ability to move, such as Parkinson’s disease, or that involve low muscle tone (hypotonia) or tremors
- Clinical geneticist: a physician who is trained to help identify and study genetic disorders
- Gastroenterologist: a medical professional who specializes in identifying and treating disorders of the stomach and intestines, including feeding issues that are common in patients with AADC deficiency
- Physical therapist: a trained healthcare professional who helps patients reduce pain and strengthen muscles to improve mobility
- Physical medicine and rehabilitation (PM&R) physician: a medical doctor, also known as a physiatrist, who treats a variety of medical conditions that affect the brain, spinal cord, bones, joints, ligaments, muscles, and tendons with the goal of improving movement ability and quality of life
- Occupational therapist: a healthcare professional who works to help mentally, physically, and developmentally disabled patients improve their ability to participate in everyday activities
- Speech therapist: a healthcare professional trained to evaluate and treat voice, speech, language, or swallowing disorders. This professional may also be called a speech pathologist
- Developmental pediatrician: a pediatrician with additional training in developmental and behavioral problems who evaluates children who aren’t developing, learning, or behaving the way they should for their age
Depending on where your child is receiving care, you may have a case worker or social worker to help you manage your child’s care team.
Although your child may have a range of healthcare providers and specialists on their care team, they may not talk to or share information with each other. As their parent and caregiver, you can be the keeper of all of your child’s health information and can share this information with each member of their care team to keep them up to date with the care your child is receiving.
What kind of healthcare providers and services are required for AADC deficiency?
An expert describes all the healthcare providers that can assist in caring for those with AADC deficiency.