The website is organised and funded by PTC Therapeutics for healthcare professionals outside the US, UK and Ireland Visit Caregiver site

Interview with a caregiver

Introduction

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, genetic neurological disorder which has a profound effect on the lives of patients and their caregivers. Here, you can gain insights into the course of the disease, including its symptoms, diagnosis and treatment, from the perspective of Ms. M — the caregiver of a German patient.

 Interview with a caregiver

Summer is a German patient with AADC deficiency. Summer was born in 2016 and was given her name as she is the sunshine in her parents’ life. She was diagnosed with AADC deficiency – a rare, genetic, neurological condition at 18 months, but the road to diagnosis was long and complex.

Importance of an early diagnosis

Question:
Some parents feel helpless when facing a diagnosis of a rare disease such as aromatic L-amino acid decarboxylase (AADC) deficiency. Why is it so tremendously important to diagnose AADC deficiency as early as possible in affected children?

Ms M: Early diagnosis is essential in many respects for the child concerned, but also for their family. One of the most important aspects is that only a confirmed, correct diagnosis enables targeted action to be taken. For the entire family, an early diagnosis also means the chance to better plan the future, as well as to make use of the different kinds of help available. Furthermore, it means certainty, and with this comes the possibility of getting help faster.

 

Message from a caregiver

Ms M. would like parents of other children with a diagnosis of AADC deficiency to know that they are not alone. She would like to highlight to parents who think that their child may have the condition the importance of establishing an early and accurate diagnosis, and recommends that they keep pushing for one.

Ms M. asks healthcare professionals to persevere – using rigorous testing and appropriate referral – to secure a definitive diagnosis for every child with a neurological condition.

 

Welcome to AADC Insights

A website for healthcare professionals, provided by PTC Therapeutics

This educational website provides information to support the early and accurate diagnosis of rare neurotransmitter disorders, including AADC deficiency

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