Patient stories: two children diagnosed with AADC deficiency

Following are 2 illustrative examples of children and their journeys leading to a diagnosis of aromatic L-amino acid decarboxylase (AADC) deficiency.^*

Of course, every child is different, so each child’s journey can be different.

Choose a child to read about:

Meet ‘Anna’, a baby girl with muscle spasms and delays in development

Not a real patient. Hypothetical profile based on actual patient experiences.

Anna had difficulty feeding as a newborn

Anna was a newborn when her parents first noticed that she had problems feeding. Her difficulty with breastfeeding led to bottle feeding, with high-flow nipples for her bottles to ensure she was getting enough nutrition
Anna coughed and turned red as if she was having trouble breathing while taking the bottle

Anna could not do what other babies her age could do

As Anna grew, her parents noticed other problems. For example, at around 9 months old, she couldn’t hold her head up, and didn’t roll over
Anna also drooled constantly and often had a runny nose

Anna started to have episodes where her eyes would move involuntarily

Anna’s eyes would suddenly swing upward and would stay there for several minutes and sometimes much longer
During these episodes, called ‘oculogyric crises’, Anna would seem frozen or zoned out
These episodes seemed similar to seizures, so Anna’s parents spoke with her doctor about it, who ran tests and ruled out seizure disorders

Anna was referred to a paediatric neurologist

Anna’s paediatric neurologist ordered routine blood work. The results came back normal
The doctor then ordered a magnetic resonance imaging (MRI) scan, which was also normal

Anna underwent special testing of her cerebrospinal fluid (CSF)

This test was done by collecting some of Anna’s spinal fluid using a procedure called a lumbar puncture
This test measured the level of certain natural chemicals in the fluid surrounding Anna’s brain

The results of the CSF analysis showed that Anna had AADC deficiency^†

Introducing ‘James’, a teenage boy with unexplained muscle spasms

Not a real patient. Hypothetical profile based on actual patient experiences.

James had trouble feeding and eating

As a newborn, James had trouble feeding. His parents cut a hole in the nipples of his bottles to help him feed

James had difficulties that other children his age did not

James took a long time to fall asleep, and would wake up multiple times during the night
James was very sensitive to temperature, and would sometimes sweat even if it wasn’t warm
Throughout his childhood, James never met the typical milestones that most children meet. He couldn’t hold his head up, sit, crawl, stand, or walk without help, and he was never able to speak

James could not always control his movements

Sometimes, James would make random motions and his arms and legs would twist uncontrollably
James’ parents thought these spells looked like seizures

James was diagnosed with cerebral palsy and given medication, but his symptoms did not improve

At 6 months old, James was diagnosed with cerebral palsy
James received some medications for his abnormal movements, but they made his symptoms worse

James’ parents took him to other doctors for more testing

James’ doctors ordered imaging tests for his brain, which were normal
The doctor also ordered common blood and urine tests to assess James’ organs and metabolism, and these tests came back normal

At 17 years old, James’ parents decided to take him to another paediatric neurologist who ordered a cerebrospinal fluid (CSF) analysis

For this test, some of James’ spinal fluid was collected in a procedure called a lumbar puncture, or a spinal tap

The results of the CSF analysis helped his doctors reach a diagnosis of AADC deficiency^†

^*Not a real patient. Hypothetical profile based on actual patient experiences.
^†Consensus guidelines recommend confirming an AADC deficiency diagnosis with a genetic test.

Listen to the Shamrin family discuss the challenges, triumphs and lessons learned from caring for their daughter, Daria, who has AADC deficiency
Find out more about AADC deficiency