Project: Open, Trustworthy Pediatric Navigator after a chronic disease diagnosis based on Apertus Goal: Helping families and health-professionals reducing the gap between hospital diagnosis and at‑home care with curated, trustworthy guidance. Initial Idea Who do we want to help? Families that receive a medical diagnosis for a child, young people or a person in the family. The chronic diagnoses are often complex and the consequences are multi‑year. While much technology is created in research and many papers on pediatric therapies are published, these innovations rarely reach quickly families and healthcare professionals who need them most. Who can benefit from this? Target users: Families and caregivers after a pediatric diagnosis. Therapists and healthcare professionals (physio, speech, psych, pulmonary rehab, etc.). Not necessary doctors. Who will pay for it: Therapists or specialists that accompany the families in their long-term disease process. By therapists we mean any kind of therapist such as psychological, physiotherapy, lung physiotherapy, speech therapists Insurers and public institutions (population health programs, reimbursed care pathways). Clinics and therapist practices (B2B/B2B2C subscriptions). What is the advantage of using this model and not an already existing LLM? Curated, verified content and explainable reasoning chains increase trust vs. generic chat. Reproducible on sovereign infrastructure (hospitals, cantonal clouds) with auditable data flows. Extensible community model: contributors add therapies, devices, and local services. What do we want to give as a result of using this service? Core Value Proposition (Outputs) 1) What does this mean for the patient? Plain-language explanation of diagnosis and implications for the child/family. Sources: https://sciences.orphadata.com/ https://icd.who.int/icdapi https://www.cochrane.org/ 2) Summary of scientific papers. Evidence summaries (systematic reviews, guidelines), with citations. Sources: https://canchild.ca/resources/ 3) Suggested tools and therapies, plus compatibility with commercial hardware and software for the development of the child. 4) Local support groups, associations, and services. Sources: Web search 5) Configurable therapy "combinations" that can be saved and shared. Elevator pitch The hospital gives them the name of a condition, but at home they face hundreds of complex papers, overwhelming online forums, and no clear next step. When you receive a chronic diagnosis for your child, like cerebral palsy, it's a shock that transforms everything. But then reality hits: you must navigate complex medical information, the diagnosis, understand treatment flows, multiple specialists, and implement intensive rehabilitation plans that require daily execution. The burden is crushing: fragmented information across dozens of websites, conflicting advice from different specialists, expensive equipment that may not work together, and the constant fear of missing something crucial. Families become project managers, researchers, and therapists overnight, while therapists struggle to provide consistent, evidence-based guidance across diverse cases and limited time. This isn't just a medical problem—it's a human crisis that affects millions of families who need trustworthy, actionable guidance they can actually implement in their daily lives. Our project bridges the gap between hospital diagnosis and daily care. We provide a trusted AI companion that translates medical knowledge into plain-language guidance, highlights evidence-based therapies, and points to local services and support networks. Unlike generic AI chatbots, our model is built on curated, verified content, making it safe, reproducible, and auditable on hospital or public infrastructure. Who benefits? Families, therapists, and caregivers who need clear, practical next steps. Who pays? Therapist practices, insurers, and public health programs that want to empower families and improve long-term outcomes. Our core value: turning a diagnosis into an actionable care plan — from plain-language explanations, to summarized evidence, to therapy tools, devices, and local support. In short: we reduce confusion and accelerate care — giving families clarity, confidence, and community right when they need it most. Tool specifics Inputs: Diagnosis of the disease Place Responsibilities: Infrastructure, docker containers, https://openwebui.com/ -> Iban, Aziz Data: Playing with the model, crawling the data -> Deep, Africa Reliable links and data: Javier ??Technical Approach (hackathon prototype) - Open-source LLM: Apertus via OpenWebUI (or equivalent OSS stack) with RAG over curated sources. - Backend: lightweight API + vector store; import pipelines for structured sources (ICD, Cochrane, CanChild). - Frontend: simple responsive web UI; later integrable into WordPress/Elementor if desired. - Deployment: docker-compose on sovereign infra; reproducible, auditable pipelines. - Translations - allowing users to understand in their local language? Inputs (for a typical query) - Diagnosis (e.g., ICD term/code) + Child age + Location. Outputs (structured) - Plain-language brief; evidence summary with citations; therapy draft; local services; device/software suggestions with compatibility. Diseases to focus on: Asthma Cerebral Palsy: Cerebral palsy is the most common cause of motor disability in childhood. Cerebral palsy is also known as infantile cerebral palsy (abbreviated to CP or ICP). In Switzerland, around 3,000 children and young people and 12,000 adults live with cerebral palsy. Das Schweizer Cerebralparese Register • Swiss-CP-Reg Cerebral Association: https://www.cerebral.ch/fr/ Cerebral Association: https://www.vereinigung-cerebral.ch/de/dokumentation Obesity / Overweight Type 1 Diabetes (T1D) Autism Spectrum Disorder (ASD) Cystic Fibrosis (CF) https://rarediseases.org/rare-diseases/cystic-fibrosis/ Duchenne Muscular Dystrophy (DMD) https://rarediseases.org/rare-diseases/duchenne-muscular-dystrophy/ Spinal Muscular Atrophy (SMA) https://rarediseases.org/rare-diseases/spinal-muscular-atrophy/ Juvenile Idiopathic Arthritis (JIA) https://www.orpha.net/en/disease/detail/91140?name=Juvenile%20Idiopathic%20Arthritis%20%28JIA%29&mode=name Rett Syndrome https://rarediseases.org/rare-diseases/rett-syndrome/ Phenylketonuria (PKU) https://rarediseases.org/rare-diseases/phenylketonuria/ Primary Data Sources (seed): IAACD (global academy; founding member): https://iaacd.net/ European Academy of Childhood-onset Disability (EACD)(lectures, archives): https://www.eacd.org/ EACD publications/events (evidence & consensus): https://www.eacd.org/education SCPE (Surveillance of Cerebral Palsy in Europe): https://www.eacd.org/education (section link) Swiss Academy of Childhood Disability (SACD) links hub: https://www.sacd.ch/de/links Physiopaed (Swiss Pediatric Physiotherapy Association): https://physiopaed.ch/ - ICD: https://icd.who.int/icdapi - Cochrane: https://www.cochrane.org/ - Pediatric rehab resources: https://canchild.ca/resources/ - National/CH sources: Federal Office of Public Health: https://www.bag.admin.ch/en - Associations/support: https://www.aha.ch/swiss-allergy-centre/asthma/allergic-asthma - Equipment directories: https://www.finifox.com/kids-aids/all-childrens-aids CASE STUDY: Gema (7) – Cornelia de Lange syndrome (CdLS) Context - Gema is 7 years old and lives with Cornelia de Lange syndrome, a rare genetic condition with multi-system involvement (growth, limb differences, hearing/vision, feeding/GERD, neurodevelopment, behavior). Objective in demo - Show how the navigator turns a rare diagnosis into a cited, multi‑disciplinary, locally actionable plan for family and therapist. Inputs - Diagnosis: Cornelia de Lange syndrome (CdLS) - Child age: 7 - Location: Spain, Teruel, rural area Outputs (structured) Plain-language brief on CdLS with key features and care priorities. Evidence and reference summary with citations (see below). Multidisciplinary plan starter: pediatric physio, occupational therapy, speech-language therapy/feeding; audiology and ophthalmology screening; behavioral supports; school IEP accommodations. Device/hardware suggestions: seating/postural supports, adaptive utensils, AAC starter options (as indicated), hearing/vision aids workflows. Software suggestions: therapy apps for fine-motor, communication support tools. Local services: therapist directories (pediatric physio), national associations and rare disease support; rural access considerations (travel distance, tele‑rehab options, school support). - Save/share care combination for family + therapist. Illustrative sources for CdLS MedlinePlus Genetics (clinical overview): https://medlineplus.gov/genetics/condition/cornelia-de-lange-syndrome/ NIH GARD (rare diseases): https://rarediseases.info.nih.gov/diseases/1025/cornelia-de-lange-syndrome GeneReviews (expert reference): https://www.ncbi.nlm.nih.gov/books/NBK1104/ Orphanet (rare disease encyclopedia): https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=198 NORD (patient-oriented rare disease info): https://rarediseases.org/rare-diseases/cornelia-de-lange-syndrome/ CdLS Foundation (family resources, care guidelines): https://www.cdlsusa.org/ and international hub: https://www.cdlsworld.org/ Spain/Europe linkage for local services: Spanish Federation of Rare Diseases (FEDER): https://enfermedades-raras.org/ SEFIP (Sociedad Española de Fisioterapia en Pediatría): https://www.sefip.org/ Consejo General de Colegios de Fisioterapeutas de España (regional directories incl. Aragón): https://www.consejo-fisioterapia.org/ Orphanet Spain: https://www.orpha.net/consor/cgi-bin/index.php?lng=ES Demo flow (2 minutes) 1) Enter diagnosis “Cornelia de Lange syndrome”, age 7, location Zurich. 2) System returns a plain-language brief with cited references (MedlinePlus Genetics, GeneReviews, Orphanet, NORD, CdLS Foundation). 3) Therapy combination builder pre-populates a multi‑disciplinary plan; we add pediatric physio (gross motor), OT (ADLs, adaptive tools), SLP/feeding (oral‑motor), plus audiology/ophthalmology referrals. 4) Compatibility rules surface suitable device/software options and flag prerequisites. 5) Local section suggests therapist directories and associations 6) Save and share the “Gema – CdLS starter plan” with family and therapist. Diagnosis example: Chronic Asthma Output example: Therapies: Asthma medication in children: https://www.ncbi.nlm.nih.gov/books/NBK441823/ Support & Associations -> https://www.aha.ch/swiss-allergy-centre/asthma/allergic-asthma **Use of Knowledge Base (KB)** * Only provide information that is explicitly present in the KB. * If you use information from the KB, clearly cite the article name or title (e.g., “According to [KB Article Title]…”). * If a question cannot be answered based on the KB, clearly say so (e.g., “I’m sorry, I don’t have that information in the knowledge base.”). —-------------------------------------------------------------------------------------------- You are **MedAI**, a supportive and compassionate chatbot designed to help patients with chronic diseases and their families. Your mission is to provide **clear, accurate, and easy-to-understand information** about health conditions, while remaining empathetic and respectful. ### 🧠 Tone & Style - Always respond with **kindness, compassion, and understanding**. - Use **simple language** that anyone can understand. - Be calm and reassuring, never alarming. - Keep answers **concise and well-structured** (use short paragraphs or bullet points). ### 🛠 Use of Tools - Whenever the user asks about a **disease, condition, or symptom**, call the `wikipedia` tool. - Summarize the **main causes** clearly and briefly. - If relevant, you may also include symptoms or treatments for better context. - Never copy entire articles word-for-word — paraphrase for clarity. ### ✅ Response Format - Start with a **friendly introductory sentence** (e.g., “Here’s what I found about asthma.”). - Use **Markdown headings**: - `## Causes` - `## Symptoms` (if applicable) - `## Treatment` (if applicable) - Keep your answers **short and focused** (around 100–200 words unless more detail is requested). - Always end with a gentle **disclaimer**: "_This information is for educational purposes and not a substitute for professional medical advice._"