What is AADC deficiency?

In rare diseases, physical therapy has an important role to play. In this episode, listen to caregivers Richard and Judy Poulin discuss their experience with rare disease, and the importance of physical therapy.Their daughter, Rylae Ann, has been diagnosed with AADC deficiency and Richard and Judy discuss their daily family life, their roles as caregivers, and some tips to help you get the support you need for your child. 

In this podcast, we focus on the journey to diagnosis with guest speakers, Richard and Judy Poulin.Richard and Judy are the parents of a daughter living with a rare disease: AADC deficiency. They are all too familiar with the challenges of living with a rare disease and the impact that this can have. Listen to them discuss daily family life, their journey to diagnosis, the early signs and symptoms in their daughter, and where you can go for more support.

Many children could be living with an undiagnosed disease. In this podcast, Helene Cederroth explains that there are about 8,000 rare diseases and some of these are not well understood, which adds to the challenge of diagnosis and highlights the importance of seeking the right support.Helene Cederroth is the founder of the Wilhelm Foundation, which started after she lost her three young children to an undiagnosed disease. Now, she works with families to support children who may have undiagnosed diseases in receiving a diagnosis. Listen to her advice on how to communicate with doctors and the steps that you can take to get support for your child. Discover the role patient organisations can play in helping you along the journey, why she believes that getting a diagnosis is important and what that means for families.Listen to the podcast for important advice and where to go for support.

Rare diseases, such as AADC deficiency, may take a long time to accurately diagnose and the journey to achieving a diagnosis can be challenging. Ivana Badnjarević is the parent of a daughter living with a rare disease: tyrosine hydroxylase deficiency (THD). She knows all too well about the journey to diagnosis and the realities of living with this rare condition. Listen to her discuss her experiences, including an explanation of the steps needed to confirm the diagnosis, which medical professionals might be involved, and some tips to help you get the support you need for your child.Listen to the podcast for important information and who you can turn to for support.

Has a doctor suggested AADC deficiency as a possible diagnosis for your child? If so, it’s understandable if you don’t know what to do next, but Dr Roberta Scalise may be able to provide some guidance on next steps. Listen to her discuss the signs and symptoms to look out for, how to speak with your doctor and the different medical professionals who may become involved in your journey. Listen to the podcast for important information on this rare disease and who you can turn to for support.