PDH Deficiency Patient Journey

During 2023 we began our collaboration with MetabERN, who are the European Reference Network for Hereditary Medabolic Disorders, as a patient organisation.

It has always been one of our ambitions to collaborate with medical professionals to create a better understanding of PDH Deficiency, this affiliation will ensure those affected by PDH Deficiency and the medical professionals involved will have clear information and guidance.

Since our affiliation we have been working closely with medical professionals in the UK and Europe to produce the first ever patient journey for PDH Deficiency.

This means that when a patient gets diagnosed with PDH Deficiency they will be given the same patient journey information whether they are in the UK or Europe.

The patient journey will include important and vital information such as: Symptoms, Diagnosis, Treatment, Monitoring and Adult Life.

As this is the first ever published patient journey for PDH Deficiency it is currently available in the following languages: English, Portuguese, Norwegian, Polish, Spanish, Swedish and Georgian and will soon be available in French, Dutch, German, Italian, and Estonian. The goal is to get them translated into many more languages over the coming months.

We continue to work extremely hard behind the scenes, and this patient journey is the first steps towards getting standardised patient guidelines written, which as you can imagine takes a huge amount of time and legal red tape.