Common Needs

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.

Diagnosis

  • 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.

Surgery

  • 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.

Communication

  • 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.