Resources
Curated guides, research summaries, clinical signposting, and community knowledge for rare conditions. Explore trusted, accessible content designed for parents and clinicians.
Learning basics
Quick primers distilled from our materials to help you get started fast.
🧬 Genetics 101
- Conditions can be caused by changes (variants) in a single gene or across the genome.
- Testing often includes chromosomal microarray and exome/genome sequencing; trio testing with both parents improves accuracy.
- Re‑analysis of exome/genome after 12–24 months can find new answers as science advances.
👶 Early signs & referrals
- If you’re concerned about development, ask your GP/paediatrician for a genetics referral.
- Bring a brief history (pregnancy, birth, milestones) and key questions; photos/video can help.
- Hearing/vision checks and growth monitoring are useful baselines.
🏠 Everyday support
- Feeding and sleep strategies, physio, OT and speech therapy can make daily life easier.
- Consider early communication support (AAC, visuals, routines) alongside therapy input.
- Ask your care team about a written plan for seizures, respiratory issues or reflux if relevant.
📚 Education & rights
- Document needs with letters from clinicians; request reasonable adjustments in school.
- In the UK, explore EHCP/SEN support; elsewhere, ask about IEP/504‑equivalent plans.
- Share a short profile with teachers and carers outlining strengths and supports.
🔎 Research & registries
- Join research registries and allow re‑contact to hear about relevant studies.
- Data sharing (with consent) helps researchers connect families and discover new genes.
- Ask about open trials and contribution options (questionnaires, samples, wearables).
Family Guides
Plain-language guides on genetics, care pathways, and early signs.
Go to research →Research Library
Summaries of recent studies and open trials for rare disease.
Go to research →