Scientific & Medical Advisory Committee

Meet the committee

Our committee brings together clinicians, researchers and parents who share a commitment to families living with CDKL5 Deficiency Disorder.

• 

  Anna Pitman

  • Parent Representative
  • Co-Chair, CDKL5 Australia–NZ Alliance

  Anna Pitman is one of two Parent Representatives on the committee and Co-Chair of the CDKL5 Australia–NZ Alliance. She is mum to six-year-old Adeline, who lives with CDD, and two typically developing boys.

  Alongside family life, Anna works in organisational development. She brings the perspective of a working parent navigating the complexities of raising a child with CDD.

  Anna is passionate about improving quality of life for children living with CDD and their families, is an advocate for changing the narrative around paediatric palliative care and advocating for Australian children to have access to emerging treatments, particularly gene therapy.

• 

  Professor Helen Leonard

  • Principal Research Fellow
  • The Kids Research Institute Australia

  Professor Helen Leonard is a child disability and rare disease researcher at The Kids Research Institute Australia in Perth. She has a medical background and has published nearly 400 scientific papers. In 2004 she helped identify some of the first children with CDKL5 Deficiency Disorder anywhere in the world.

  In 2012, with Australian colleagues, Helen established the International CDKL5 Disorder Database, which now holds information on more than 450 people with a confirmed CDD diagnosis. She leads the ongoing recruitment and care of the database. Its information has helped families, doctors and researchers better understand development, epilepsy and its treatment, other medical problems and quality of life in CDD.

  Helen says that looking into the eyes of these children, and wondering why life has treated them so cruelly, is her inspiration.

More member profiles will be added soon.