Common Needs

We often hear tragic stories of patients with rare or complex, life-threatening diseases, who face challenges in obtaining a correct diagnosis and in accessing appropriate therapies and clinical expertise. Their doctors are unable to help them as they have never seen similar cases, so they are left untreated or have to search the internet in the hope of finding a centre with the necessary expertise.

With European Reference Networks (ERNs), patients with rare and complex conditions are able to benefit from the best treatment and advice available in the European Union (EU) for their specific conditions. Their doctors have access to a highly-specialised pool of colleagues from all over Europe.

These rare diseases and conditions often require a patient to be followed up throughout their life span. Many of our patients have reported a lack of adequate care when transitioning from paediatric to adult care. ERN eUROGEN ensures that as many of our patients as possible can receive high-quality specialist care from birth through to the end of life.

Common Needs in Rare Uro-Recto-Genital Diseases & Complex Conditions

Surgical correction is key for many rare uro-recto-genital diseases and complex conditions. However, it is only one aspect, and care needs to go beyond surgery to form a holistic, life-long approach, optimising patients’ development, confidence, and independence.


  • Accurate and timely diagnosis can be difficult to secure. This can be given during pregnancy, immediately at birth, or later in life.
  • Following diagnosis, referral to the right speciality and centre is essential.
  • Parents can be overloaded with information and are faced with many difficult questions.
  • Step-by-step, proactive information on treatment options is essential, including surgical options and psychological support.
  • Diagnostic information, including the timing of diagnostic examinations, should be given to the parents as well as who to call and what to expect in the first six months.
  • Directing parents and family to a patient organisation can be a huge support.
  • In other syndromes that are diagnosed later in life such as chronic and degenerative diseases (e.g., interstitial cystitis), women may see many doctors and may be ill-treated before securing the right diagnosis, causing significant distress.


  • Corrective surgery – e.g., closing the bladder or correcting the malformation.
  • Information on possibilities for reconstructive surgery.
  • Proactive bowel and continence management is essential from day one.
  • Parental education on self-care for the child including skincare.
  • Information and advice on managing incontinence (urinary and/or faecal), including management of catheters or colostomy.
  • Follow-up care plan with contact details for support, e.g. specialised nurse and case manager.
  • For some conditions, there is no surgical intervention and standard treatments do not remove the problem nor the pain.

Ongoing Treatment

  • After surgery, optimising bladder and bowel management immediately is essential.  For example, problems with the bowels can start following reversal and closure of a stoma.
  • Functional and aesthetic problems need to be proactively managed and individuals need to be given long-long support.
  • Treatment should be under an expert centre and by a multi-disciplinary team.
  • Families should be given a ‘road map’ or care plan so they know what to expect and when.
  • Advice on who/which speciality to see as an adult/older person if further problems develop.


  • There should be good communication and management of expectations.
  • Clinicians should use support tools, trigger questions, written information (e.g., individual transition protocols) to aid effective, person-centred communication.
  • It is important to have good communication and coordination with local services and a timeline for care (including with primary care services and for teachers/schools).

Self-image and emotional well-being

  • All affected individuals desire a normal life and have good expectations for their management and life choices.
  • Bladder and bowel disorders affect the most intimate parts of the body, with a huge impact on self-image.
  • Individuals need to know how to cope with pain as this can trigger depression. Despite flare-ups of pain, there are ways to maintain a good quality of life and sex life.
  • Clinicians should ask trigger questions, including questions about body image and social and sexual problems.
  • Patient organisations can help parents navigate the challenges around how to talk about the disorder and help it be normalised. This can help the confidence of the patient.

Life-long Follow Up & Transition

  • Long-term care with future guidance and life-stage advice.
  • Bowel management follow-up may be needed, but needs may also change.
  • Care needs to be coordinated and followed up with regular clinical review so issues are identified in a timely manner.
  • Care is needed throughout the patient’s life. Problems are always there, but may be silent and may return to impact the patient’s quality of life.
  • Transition is a process not a one-off event and should start early, working towards the child becoming more independent in their engagement with healthcare professionals.
  • Individual transition plans should be developed and put in place.


Share4Rare aims to serve and help rare disease patients and caregivers. By using artificial intelligence algorithms they are able to foster global connections between their platform’s users according to their specific conditions.

The community is open to any adult patients and/or caregivers of paediatric patients with any rare disease, as well as patient representatives and patient organizations.