Patient stories: Children diagnosed with AADC deficiency
“At the center of the care team is always the patient and the family.”
The following examples are of children and their journeys leading to a diagnosis of AADC deficiency.
Of course, every child is different, so each child’s journey can be different.
Choose a child to read about:
AGE 6 DAYS
Symptoms begin
- Her parents noticed that she had problems eating
- Difficulty with breastfeeding led to bottle feeding
- She coughed and turned red as if she were having trouble breathing while taking the bottle
- Difficulty with breastfeeding led to bottle feeding
- Her parents also noticed that she felt cold
AGE 2 MONTHS
Pediatrician documents more signs and symptoms
- The pediatrician noticed that she was excessively irritable, including her being excessively startled by noises and sudden movements
AGE 3 MONTHS
Episodes of involuntary eye movements begin
- Her eyes would suddenly swing upward and would stay there for several minutes and sometimes much longer
- During these episodes called “oculogyric crises,” she would seem frozen or zoned out
- Parents noticed she would typically experience these episodes late in the afternoon or evening; they became more frequent and severe over the next 2 months
- Her parents thought these attacks seemed similar to seizures
AGE 5 MONTHS
She is referred to a pediatric neurologist
- The pediatric neurologist examined her and found that she:
- Couldn’t hold her head up, roll over, or reach for objects
- Drooled constantly
- Often had a runny nose
- Had droopy eyes
- The pediatric neurologist prescribed medication for her involuntary eye movements, but it did not work
- At this time, she started being seen by a .
DIAGNOSIS
5 months
Special testing leads to a diagnosis
- Her pediatric neurologist ordered:
- Routine blood work, which came back normal
- An MRI, which also came back normal
- She underwent special testing of her CSF
- This test was done by collecting some of her spinal fluid using a procedure called a lumbar puncture, or a spinal tap
- This test measured the levels of different compounds (metabolites) involved in the making of neurotransmitters. Neurotransmitters allow the cells in the nervous system to talk to each other
- Her pediatric neurologist also ordered a genetic test, which confirmed an alteration, or mutation, to the DDC gene
- The results of both of these tests confirmed that she had AADC deficiency
CSF=cerebrospinal fluid; DDC=dopa decarboxylase; MRI=magnetic resonance imaging.
AGE 3 MONTHS
Not meeting developmental milestones
- As a newborn, he had trouble eating
- He also had low muscle tone, with his parents describing him as appearing “floppy”
AGE 6 MONTHS
He is diagnosed with cerebral palsy
- He began experiencing episodes of “oculogyric crises:”
- His parents described that sometimes he would make random motions, and his arms and legs would twist uncontrollably
- His parents thought these spells looked like seizures
- He received some medications for his abnormal movements, but they made his symptoms worse
AGE 2 YEARS
He experiences issues with bodily functions
- He took a long time to fall asleep and would wake up multiple times during the night
- He was sensitive to temperature, and his parents noticed that he would sometimes sweat even if it wasn’t warm
AGE 4 YEARS
No developmental milestones are achieved
- By 4 years old, he had:
- Poor development of bodily movement
- Inability to speak and communicate
AGE 6 TO 10 YEARS
Begins seeing a physical medicine and rehabilitation specialist
- During this period, he could not:
- Hold his head up
- Sit
- Crawl
- Stand or walk without help
- Speak
- He also continued to experience difficulty with feeding and swallowing
AGE 13 YEARS
Involuntary eye movements worsen
- His parents noted that episodes of oculogyric crises became more frequent and lasted longer
AGE 17 YEARS
Evaluated by a new neurologist
- After his family moved, he was seen by a new neurologist for adult patients, who thought he might have AADC deficiency
DIAGNOSIS
17 years
Lab tests help lead to a diagnosis
- The new doctor ordered imaging tests for his brain, which were normal
- Common blood and urine tests to assess his organs and metabolism also came back normal
- His neurologist ordered a CSF analysis
- For this test, some of his spinal fluid was collected in a procedure called a lumbar puncture, or a spinal tap
- This test measured the levels of different compounds (metabolites) involved in the making of neurotransmitters. Neurotransmitters allow the cells in the nervous system to talk to each other
- His neurologist also ordered a blood test for AADC enzyme activity
- This test measures the activity of the AADC enzyme, which is reduced in patients with AADC deficiency
- The results of both of these tests helped his doctor diagnose him with AADC deficiency
CSF=cerebrospinal fluid.
AGE 4 MONTHS
Parents notice a range of signs and symptoms
- These included:
- Low muscle tone, or “floppiness,” that is also known as hypotonia
- Little spontaneous movements
- Irritability
- Unable to achieve weight according to his age
AGE 6 TO 12 MONTHS
Referred to a pediatric neurologist
- His parents took him to a hospital multiple times after he experienced spasms that resembled those of epilepsy
- The pediatric neurologist:
- Ordered brain scans, which came back normal
- Prescribed medication for epilepsy
- He was then seen by a
AGE 14 MONTHS
Spasms are diagnosed as dystonia
- Pediatric neurologist examined him and documented:
- Inability to sit without help or grasp objects
- Floppy limbs
- Trouble swallowing, regular vomiting, and constipation
- Excessive drooling and sweating
- Disturbed sleep
- Additional brain scans were done and come back normal
- New pediatric neurologist reclassified the spasms thought to be epilepsy as , which is a movement disorder when muscles contract involuntarily, causing repetitive or twisting movements
- He was referred to:
AGE 2 YEARS
He is examined for a neurotransmitter disorder
- After considering a diagnosis of , he was evaluated for a
DIAGNOSIS
2 years
Blood test helps pediatric neurologist make a diagnosis
- Pediatric neurologist ordered
- A blood test for plasma AADC enzyme activity, which is reduced in patients with AADC deficiency
- A CSF metabolite panel, which measures the levels of different compounds (metabolites) involved in the making of neurotransmitters by collecting some of the fluid in the spine
- The results of these tests helped the pediatric neurologist diagnose him with AADC deficiency
CSF=cerebrospinal fluid.
AGE 3 MONTHS
Seen by a pediatrician
- During the exam, the pediatrician noted that she couldn’t lift her head and had low muscle tone, or “floppiness,” known as hypotonia
AGE 5 MONTHS
Pediatric neurologist considers diagnosing her with cerebral palsy
- She began experiencing severe, involuntary spasms, known as “oculogyric crises”, which affected her entire body
- These episodes led to a referral to a pediatric neurologist who considered diagnosing her with cerebral palsy
AGE 9 TO 13 MONTHS
No developmental milestones achieved
- She remained inactive and experienced severe insomnia, in addition to not achieving developmental milestones, which led to a referral to another pediatric neurologist
- New pediatric neurologist conducted brain scans, which came back normal
- She began seeing a
AGE 14 MONTHS
Genetic testing is recommended
- After there was no improvement in her condition and doctors could not make a definitive diagnosis, she was referred to a specialized center for genetic testing
DIAGNOSIS
15 months
Genetic testing confirms she has AADC deficiency
- The genetic test confirmed an alteration, or mutation, in the DDC gene
- A blood test for plasma AADC enzyme activity, which is reduced in patients with AADC deficiency, also shows a reduced amount of the enzyme in her blood
DDC=dopa decarboxylase.
