Patients

Patients

Patients are at the centre of ERNs, and this has been the EC’s goal from the outset – a fundamental principle is that they and their representatives should actively participate in the advisory bodies of the networks as key partners. Patients, parents, and families often endure difficult times while seeking a final diagnosis and prognosis for their diseases. By being involved in a pan-European effort, these individuals are empowered and able to make a difference.

Therefore, ERN eUROGEN is advised by our ERN Patient Advocacy Group (ePAG), which is comprised of ePAG Advocates who have lived experience of our Workstreams and Expertise.

European Patient Advocacy Group (ePAG)

The ERN eUROGEN ePAG comprises Associate Patient Partners, also known as ePAG Advocates, who are patients from European patient organisations representing those affected by rare diseases or complex conditions under ERN eUROGEN’s scope. When Associate requirements are not met, patients can also be involved in ERN eUROGEN as Supporting Patient Partners.

To ensure that the patient voice is heard within ERN eUROGEN, its ePAG is included in all activities, for example, giving input on disease coding, setting the research agenda, completing patient surveys in the registry, advising on training and educational activities, and being trained on how to be involved in developing ERN clinical practice guidelines and clinical decision support tools so they can be involved in their production. They are encouraged to join initiatives from the network’s Supporting Partners so that they can make connections and links. The ePAG has two seats on the ERN eUROGEN’s Strategic Board.

The following EURORDIS patient groups have endorsed ERN eUROGEN and actively contribute to our mission:

Finding patient organisations and representatives in this medical area can be difficult, so new applications from patients to work with ERN eUROGEN are warmly welcomed.

ePAG Advocates & Supporting Patient Partners

Dalia Aminoff (ERN eUROGEN ePAG Chair)

Endorsed by: Associazione Italiana per le Malformazioni Anorettali (AIMAR, Italian Association for Anorectal Malformations), a national non-profit organization formed by and for families of children born with anorectal malformations (imperforate anus, cloaca, cloacal exstrophy, VATER/VACTERL associations, urogenital sinus etc.), colorectal disease and any associated defects. Their aim is to improve and enhance children’s quality of life.

Dalia is AIMAR’s founder and president. She has organised several seminars and meetings involving parents, nurses and physicians both on a national and international level, and has provided support for multiple different projects across the field.  Dalia is also actively involved in the ARM-Net Consortium (a European network project for anorectal malformations).

Role in ERN eUROGEN: Chair of the ePAG, Member of the Strategic Board, ePAG Representative for Workstream 1/Expertise Area 1.7 Urorectal/anorectal malformations, Liaison with ARM-Net (ERN eUROGEN Supporting Partner), Member of the Working Groups on: Rare 2030; Patient Survey H-CARE; and the ERN eUROGEN Registry.

Claire Harkin

Endorsed by: Klinefelter’s Syndrome Association (KSA), a charity offering support and information to all affected by or having an interest in Klinefelter’s Syndrome and XXY (e.g., the medical profession, other public and private bodies and the general public), so that all understand its implications, not only for the individual affected but also for all those with whom they have contact during their lives.

Claire has been a trustee and Honorary Secretary of the KSA since 2019. She has worked hard to expand her knowledge of all aspects of KS/XXY and has demonstrated empathy with those affected. She is clearly committed to improving their lives and has been keen to encourage their input. She is happy to respond to people with questions or who just want to talk to someone who knows how they feel.

Role in ERN eUROGEN: Member of the Strategic Board, ePAG Representative for Workstream 1/Expertise Area 1.1 Complex genital reconstructions (DSDs).

Steven Leusenkamp

Endorsed by: Patiëntenvereniging voor Blaasextrofie Nederland, the patient association for bladder exstrophy Netherlands, an association for patients (and their families) with epispadias, classical bladder exstrophy, and cloacal exstrophy.

Role in ERN eUROGEN: Member of the Strategic Board, ePAG Representative for Workstream 1/Expertise Area 1.2 Bladder exstrophy/epispadias.

Nicole Schwarzer

Endorsed by: Selbsthilfeorganisation für Menschen mit Anorektalfehlbildungen eV (SoMA eV, Self-Help Organisation for People with Anorectal Malformations), the German patient and parent association for people born with anorectal malformation (ARM), Hirschsprung´s disease (HD/HSCR) and cloacal extrophy (EC).

After Nicole’s youngest child was born with an anorectal malformation in 1997, she began working for SoMA and has been Chairwoman since 2000. Nicole is also involved in CURE-Net (a research project for urorectal malformation) and ARM-Net (a European network registry project for ARM). She gives presentations at national and international congresses on a regular basis about life with ARM/HD or the results of SoMA’s work, and together with the SoMA team develops and implements various support projects, giving people with ARM, HD and also with cloacal exstrophy a positive perspective and a higher quality of life.

Role in ERN eUROGEN: Member of the Strategic Board, ePAG Representative for Workstream 1/Expertise Area 1.7 Urorectal/anorectal malformations, Member of the Working Group for the ERN eUROGEN Registry, Member of the ERN eUROGEN/ERNICA Cross-ERN Working Group on ARM/HD, Member of ARM-Net (ERN eUROGEN Supporting Partner).

Kate Tyler

Endorsed by: TOFS, a UK-based charity working towards a world in which those born with OA/TOF live long and healthy lives, unconstrained by the impact of being born with these conditions.

Kate is a Trustee of TOFS and is the lead for the Adult TOF Working Group. Her areas of expertise is in VAcTErL, ARM/Cloaca-Volvulus – TOF/OA.

Role in ERN eUROGEN: Member of the Strategic Board, ePAG Representative for Workstream 1/Expertise Areas 1.7 Urorectal/anorectal malformations and 2.6 Adult urogenital reconstructive surgery, ePAG Representative on the ERN eUROGEN Guidelines Expert Panel.

Anna De Santis

Endorsed by: Associazione Italiana Cistite Interstitiale (AICI, Italian Association for Interstitial Cystitis) representing over 800 patients with interstitial cystitis living across Italy as well as Italian patients living abroad.

Anna currently works for an International Humanitarian Organization in Rome. She has been a member of AICI since April 2016 and was elected as a board member in June 2018. She has participated in the following voluntary activities: Participant at American and European congresses on urology; Participant as a speaker at the “Uno Sguardo Raro” Press Conference in Rome, 2021; Participant giving a testimonial in the short film “Then has arrived her”.

Role in ERN eUROGEN: Member of the Strategic Board, ePAG Representative for Workstream 2/Expertise Area 2.5 Interstitial Cystitis, ePAG Representative on the ERN eUROGEN Guidelines Expert Panel.

Serena Bartezzati

Supporting Patient Partner.

Role in ERN eUROGEN: Member of the Strategic Board, ePAG Representative for Workstream 2/Expertise Area 2.5 Interstitial Cystitis, ePAG Representative on the ERN eUROGEN Guidelines Expert Panel.

John Osborne

Independent ePAG Advocate.

Endorsed by: Orchid, the UK’s leading charity working on behalf of anyone affected by or interested in male cancer – prostate, testicular and penile cancer. Orchid exists to save men’s lives from male cancer through a range of support services, education and awareness campaigns and a pioneering research programme.

Role in ERN eUROGEN: Member of the Strategic Board, ePAG Representative for Workstream 3/Expertise Area 3.1 Penile cancer.

Kenneth Manzie

Independent ePAG Advocate.

Endorsed by: Orchid, the UK’s leading charity working on behalf of anyone affected by or interested in male cancer – prostate, testicular and penile cancer. Orchid exists to save men’s lives from male cancer through a range of support services, education and awareness campaigns and a pioneering research programme.

Role in ERN eUROGEN: Member of the Strategic Board, ePAG Representative for Workstream 3/Expertise Area 3.1 Penile cancer.

Robert Cornes

Endorsed by: Orchid, the UK’s leading charity working on behalf of anyone affected by or interested in male cancer – prostate, testicular and penile cancer. Orchid exists to save men’s lives from male cancer through a range of support services, education and awareness campaigns and a pioneering research programme.

Rob is the Orchid Male Cancer Information Nurse. Rob qualified as a Registered General Nurse (RGN) in 1991, and has worked as a staff nurse, charge nurse, clinical trials nurse and a uro-oncology clinical nurse specialist, where he was the designated key-worker for anybody diagnosed with a urological malignancy. Rob has met literally thousands of men affected by male cancer and gained a valuable insight into the sort of information that they need. He is a firm advocate of both written and verbal information, having learnt from experience that both make a huge difference for patients and their families.

Role in ERN eUROGEN: Member of the Strategic Board, ePAG Representative for Workstream 3/Expertise Areas 3.1 Penile cancer and 3.2 Testicular cancer.

EURORDIS

 

ERN eUROGEN has worked closely with EURORDIS (a unique, non-profit alliance of over 1000 rare disease patient organisations from 74 countries that work together to improve the lives of over 300 million people living with rare diseases globally) to increase engagement with urogenital patient organisations and establish the network’s ERN Patient Advocacy Group (ePAG).

By connecting patients, families and patient groups, as well as by bringing together all stakeholders and mobilising the rare disease community, EURORDIS strengthens the patient voice and shapes research, policies and patient services. EURORDIS supports the creation and development of rare disease national alliances and disease-specific European federations and networks.

You can download the EURORDIS factsheet on “The involvement of patient organisations and patients in the European Reference Networks” here.

Common Needs

Surgical correction is key for many rare urogenital 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 or the pain.

Ongoing Treatment

  • After surgery, optimising bladder and bowel management immediately is essential.  For example, problems with the bowels can start following the 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, and 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.