My name is Melissa and my 2 year old daughter Olivia has been been diagnosed with Tyrosine Hydroxylase Defciency Dopa Responsive Dystonia. Tyrosine hydroxylase (TH) deficiency is a rare metabolic disorder characterized by lack of the enzyme involved in converting the amino acid tyrosine to L-dopa. L-dopa is an important chemical in producing dopamine in the brain. Dopamine is the major neurotransmitter which facilitates motor control and movement.
There are less than 50 cases known worldwide and Olivia is the 8th infantile diagnosis known. She once was believed to have Cerebral Palsy because TH def DRD mimics it. This condition effects Olivia’s fine and gross motor skills, and balance. She has a mixture between hypotonia and hypertonia, abnormal eye movements, sensory, and mood.
We are very blessed that Tyrosine Hydroxylase Defciency Dopa Responsive Dystonia was diagnosed quickly. Diagnosis is very rare in infants. Olivia takes Sinemet 3x daily. Sinemet is a Parkinson’s medicine to replace the dopamine in your brain to transmit to muscles. Olivia’s brain does not make sufficient dopamine. As soon as the medicine wears off, Olivia symptoms return within a half hour. Little is known about this disease and doctors are researching daily to try to find a cure.
Olivia has been through so much in her short life but she continues to be an inspiration to everyone around her. She is a determined and strong little girl. We have joined with the Pediatric Neurotransmitter Disease Association to put on “Olivia’s Cause for A Cure.”
We will never give up looking for answers. Hope, it’s in our genes.