First of all thanks for taking the time to visit my JustGiving page.

This is what AADC Deficiency is about:

Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the way signals are passed between certain cells in the nervous system.

Signs and symptoms of AADC deficiency generally appear in the first year of life. Affected infants may have severe developmental delay, weak muscle tone (hypotonia), muscle stiffness, difficulty moving, and involuntary writhing movements of the limbs (athetosis). They may be lacking in energy (lethargic), feed poorly, startle easily, and have sleep disturbances. People with AADC deficiency may also experience episodes called oculogyric crises that involve abnormal rotation of the eyeballs; extreme irritability and agitation; and pain, muscle spasms, and uncontrolled movements, especially of the head and neck.

AADC deficiency may affect the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Resulting signs and symptoms can include droopy eyelids (ptosis), constriction of the pupils of the eyes (miosis), inappropriate or impaired sweating, nasal congestion, drooling, reduced ability to control body temperature, low blood pressure (hypotension), backflow of acidic stomach contents into the esophagus (gastroesophageal reflux), low blood sugar (hypoglycemia), fainting (syncope), and cardiac arrest.

So.....

Now you know the basics.

Let's get a little bit deeper....

Raising a child with AADC deficiency is like playing in the lottery - every day. Maybe it is the worst day of your life, or maybe it is the best day your child ever had. My biggest fear? Waking up my child in the morning without success (this is how AADC deficiency ends up). It is uncontrollable. But there is still hope! Genetherapy is some steps before curing this disease, and research is so important, so please support the AADC Research Trust. Every Euro, Dollar or Pound can make a difference of the break-through!

Please donate and wear something blue between 22nd and 28th may to show your support! 

Thank you so much for your attention.

In Love,

Stephanie, Jan and Anna

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