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.

3 thoughts on “Olivia Takes Parkinson’s Drug Called Sinemet To Control Infantile Tyrosine Hydroxylase Defciency Dopa Responsive Dystonia”

  1. Tourrucou Alexia says:

    my daughter has the same disease. She has 20 months. I would love to discuss with you. Can you contact me please ? We live in France

  2. Nichole says:

    Hi,

    They think my 2 year old might have a mild form of TH. They want him to try sinemet. I am very nervous! My doctor is waiting on an affordable genetic panel but said they use this to help confirm the DX. My little guy started limping back and developed an ataxic walk. His right leg is weak and he starting walking on his toes. They ruled out everything from infection to cancer, md ect. This seems to fit a lot of his symptoms. Please I would love to hear from you!

  3. Casey says:

    I’m 38 years old and was just confirmed to have TH defiency due to BH4 defiency from a GCH1 genetic problem, causing many mental/physical ‘quirks’ as I categorized myself with.

    I had accepted that these issues were normal to some degree, and that I was a sickly, uncoordinated person. I accepted not being able to run, not being able to dance, not being able to stand upright in one place for too long, to a million more basic things. I was labelled an ‘uncoordinated clumsy and lazy kid’, with the random days of better fucntionalty. I’d get in trouble at school for resting my head on the desk, and holding my head up with my hands. My feet would hurt so much that they’d become numb, id’ make them fall asleep to recuce the pain as well. I have the marked duirinal forms, where by 1-3pm I can no longer hold my head up from muscle fatigue, but at 10am I am nearly normal probably due to randonly eating lower TYR & PHE foods.

    Sadly, or fortunately in another light, I’ve experienced nearly every symptom that relates to TH def inlcuding the ones mentioned above, including walking on my toes, dystonia in my feet, jaw, neck, back, thighs, hips, etc.

    I’d be happy to chat with anyone concerned about Sinemet and what it’s like to feel or live with the DRD muscle tension. I can speak to what non medicine things that help, things that don’t, etc.

    Specifically, Sinemet changed my life. I do not say that lightly. My life is signifiantly better, from nearly every aspect with the unrational exception with the frustration/depression that I lived so long without knowing what life should of been like. The limitations I had become accustomed to, and subconsciosly adapted to, were ‘normal’. These issues have slowly but not completely melted away while taking Sinemet but also return within 30 minutes once it wears off.

    To those concerend about your children. I understand the worry, the labels that may come with it, and the fear of your child being in pain and not being ‘normal’. I know you also want to help and make sure they can be the best and happiest person they can be. To that, please try Sinemet if your Dr thinks it’s worthwhile. At minimum remember to tell your child when they are older for them to determine themselves if you make the choice not to try it now which I fully understand.

    I do feel I have missed out on some aspects of life. But the good news is I understand myself, and would love to help others any way possible.

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