Patient Journey Common Needs: Rare congenital malformations + syndromes with intellectual and other neurodevelopment disorders

Rare congenital malformations and syndromes with intellectual and other neurodevelopment disorders mainly affects one child in a million. The heterogeneous nature of their clinical presentation and huge variation in first symptoms that can present from the newborn period, often result in a delay in securing a timely diagnosis as well as without any available treatment options. Many a recommon symptoms see nacross different syndromes,some are more syndrome‐specific. ERN ITHACA has been setup to improve the prognosis and quality of lives for the children affected. But with several thousand rare diseases, how can the Network response to the wide and diverse needs of these children?

The patient representatives (ePAG) mapped out the individual needs of their children in a syndrome specific ‘patient journey’ that acted as a personal testimony and mapped the natural history of each of the rare syndromes.


•Patient representatives presented their syndrome-specific ‘patient journeys’ (Bolz-Johnson et al. 2019) in a workshop and identified the characteristics and needs that were common.

•The common needs were developed into a position paper that was relevant for all syndromes and summarized under key headings.

•The common needs were presented to ERN ITHACA at the Network’s Annual Meeting in Düsseldorf, 2019.


Genetics is the key for many ITHACA syndromes however it is only one aspect of child and ERN ITHACA needs to go beyond the genetic diagnosis and think about the holistic needs of this patient community. Key needs include:

Timely Diagnosis & Support:

Early diagnosis and family-centred communication and support of ITHACA syndrome •The corner-stone to optimise family’s ability to best cope and independence.

Childhood Development:

Optimizing childhood development through access to therapies •enable personal assistance and equipment to ensure mobility and independence (self-care) living.

Mental & Emotional Well being : 

•Mental and emotional well being

•Psychological support for the children AND their parents.

•Psychiatric support is vital for many syndromes in early childhood and in adulthood.

Holistic Care

•Integrated care planning, case management and care coordination across the life-journey of our children

•Social care and educational support

•Ensuring continuity of care through transition to adulthood

•Annual MDT one-stop-shop health check


In collaboration with their patient communities, the ePAG advocates of ERN-ITHACA have set up five patient journeys. These journeys provide a common perspective on the needs and care that  patients would like to receive throughout the various stages of their journey – from early symptoms to diagnosis, post-treatment follow-ups. Using this tool, ITHACA patient advocates and clinicians can collaborate to identify gaps in care services, adapt care pathways to more effectively deal with the needs of patients who are living with these diseases, and discuss relevant outcomes and challenges at various stages. Based on this information, the ERN will be able to develop collaborative initiatives based on a better understanding of the care needs of patients that our community is serving.

Patient journeys are also a useful reference for patients, families, and non-expert public and clinicians to understand the care needs that persons living with these diseases will encounter throughout the various stages.

5 Patient Journeys have been developped on the following rare diseases/syndromes:

  • Rett Syndrome
    Patient representatives, patients and their families from the United Kingdom contributed to the development of this patient journey.
  • Williams Syndrome6 patient and their families representatives from Hungary, Italy, Belgium, Germany and UK have contributed to the development of this patient journey. Moreover, several patient representatives of the EU WS Federation are involved on the development of new Clinical Guideline for William’s syndrome.
  • Prader Willi Syndrome
    2 patient representatives, patients and their families from Romania, Denmark and 2 clinicians from ERN-ITHACA, have participated on the development of this patient Journey.
  • Spina Bifida
    Several patient representatives, patients and their families from the International Federation for Spina Bifida and Hydrocephalus have contributed to the development of this patient journey.
  • Pitt-Hopkins Syndrome
    Seven patient representatives, patients and their families across five EU countries (United Kingdom, Ireland, Sweden, Italy and the Netherlands) as well as ERN-ITHACA clinicians have contributed to the development of this patient journey.

Based on these individual patient journeys, ePAG advocates within ERN-ITHACA were able to identify the commonalities of these five rare diseases/syndromes. These common needs were included in a position statement which was presented at the ECRD congress on May 2020.

For more information, please see the ERN ITHACA Patient Council Work Group presentation


Recommendations based on patients’ experience have been developed for care & therapies, treatment, psychological support, transition of care, professional training and education. An agreement with experts on introducing common needs in all the workshop of ERN ITHACA have been achieved at the board meeting in Dusseldorf, as well as developing a standards of care in a Clinical Pathway for children with a rare disease.

Refence: Patient Journeys: improving care by patient involvement, Bolz-Johnson M., Meek J., Hoogerbrugge N. EJHG Nov. 2019 Authors: Ammi Andersson, RBU International SBH; Dorica Dan, RARE DISEASE Romania; Matt Bolz-Johnson, EURORDIS, Yvonne Milne, Rett Syndrome UK, Gabor Pogany, RARE DISEASES Hungary and Sue Routledge, Pitt Hopkins Uk