Rare conditions
If your child has a rare condition, it can be harder to find out what’s wrong and what support is out there. On this page we explain more about diagnosis of rare conditions or diseases and the organisations that can help.
What is a rare condition?
A condition is considered ‘rare’ if it affects fewer than 1 in 2,000 people. There are around 7,000 identified rare conditions in the UK, though that number is growing as research advances. Genetic Alliance UK publishes an up to date A-Z of genetic and rare conditions.
Most rare conditions are genetic, but some can be acquired, for example after a virus or infection.
Rare conditions are usually chronic, which means a person may need help with their health and wellbeing throughout their life. With the right support and strategies, however, many people with rare conditions lead fulfilling and active lives.
Getting a diagnosis for a rare condition
Despite recent expansions and advances in genetic testing and screening, getting a diagnosis for a rare condition can still be a long and challenging process. There are lots of reasons for this. Some rare conditions have similar symptoms to more common diseases and doctors are trained to look at common explanations first. Your child’s symptoms may not fit with the usual presentation of a condition, or they may not have all the symptoms usually associated with it. It’s common for a child or young person to go through multiple tests and referrals for more common conditions before a rare condition is even considered.
Nevertheless, the first step to getting a diagnosis for a rare condition is to speak to your child’s GP or paediatrician. They can refer you for tests with relevant specialist services including the local NHS regional genetics service.
Even with genetic testing, some conditions are so rare that clinicians are unable to give it a name. Some children’s features and symptoms will be unique, while others will fit more than one condition.
Unique and the Genetic Alliance publish information about genetic, rare and undiagnosed conditions.
Having no diagnosis
When clinicians are unable to give you a reason or name for your child’s disabilities, they may instead describe the characteristics of the condition. For example, they may say that a child has a ‘learning disability’ but not be specific about the cause.
If a child is not meeting two or more developmental milestones at an appropriate age and the cause is unknown, doctors may say that they have ‘global development delay’. This means they may have difficulties with their motor skills, speech and language, cognitive or social and emotional skills.
It can be very frustrating to get no concrete label to help understand and describe your child’s difficulties. It’s harder to explain their difficulties to friends and family, to picture their future or decide whether to have more children. However, be reassured that you don’t need a diagnosis to get support. You are eligible for the same services as other families whose children have named disabilities. And some support strategies and techniques work for all sorts of different conditions, so these can be adapted to help your child, too.
Our fact sheet ‘Living without a diagnosis’ has more advice on living with the uncertainty of no diagnosis. SWAN UK (Syndromes Without A Name) provides information and services for families affected by conditions that are so rare that they are undiagnosed. Visit SWAN UK (Syndromes Without A Name).
Types of treatment
Only about 5% of rare conditions have approved medical treatment associated with them. Instead, treatment usually focuses on managing symptoms and getting therapeutic support tailored to your child’s individual needs. This might involve taking daily medication, following a specific diet or attending ongoing therapies, including:
- Physiotherapy – to help them maximise their range of movement and improve posture
- Occupational Therapy (OT) – to help them gain independence and master everyday tasks such as eating and going to the toilet
- Speech and Language Therapy (SALT) – for help with swallowing and communicating, including sign language
Children and young people may sometimes be invited to join clinical treatment trials as part of NHS research programmes.
Support
Having a child with a rare condition can be very isolating, as it’s harder to find people who understand what you and your child are going through. But there are organisations that can help with fostering these connections.
Amaze’s Complex Needs Group – Amaze’s Parent Groups & Befriending team runs regular parent support groups including one for parents of children and young people with complex needs. Some of the parents at these groups have children with rare conditions. See our Events listing for the next dates of our Complex Needs groups in East Sussex and Brighton & Hove.
Rare Families Sussex is a Facebook support group run by and for parents and carers in Sussex of children and adults living with rare or undiagnosed genetic conditions. Request to join the group here: Rare Families Sussex | Facebook
SWAN UK (Syndromes Without A Name) is a support community for UK families affected by conditions that are so rare that they are undiagnosed. They also provide information and services. Register with SWAN UK (Syndromes Without A Name). There is also a SWAN Facebook page,
Unique – national charity Unique can help you learn more about your child’s rare chromosome disorder or connect you to groups and families with the same disorder via a confidential database. They have a helpline and lots of resources too. Visit Families – Unique or email [email protected].
Contact’s Rare Conditions Network – national charity Contact has set up a network that brings rare condition support groups together to share ideas and expertise and strengthen group relationships. They also run free workshops for families whose children have rare conditions.
Further information and resources
Videos
- SWAN UK video – Why do some conditions remain undiagnosed?
- Unique video: – Living with rare chromosome disorders
- Public Services Delivery Scotland video: Guide for Patients and Families Affected by Rare Conditions
Online and written resources
- Amaze’s fact sheet on Living without a Diagnosis
- Contact’s A-Z of Medical Conditions has information on hundreds on conditions, including information on symptoms and possible treatments. It also includes details for support groups, which can be an invaluable source of condition-specific information and support.
- Contact’s fact sheet on ‘Living with a rare condition’
- Rare Resources guides – Genetic Alliance UK – for families “who have recently received a diagnosis of a genetic or rare condition, are on the journey to a diagnosis or who have been told their child’s condition is so rare they might not get a diagnosis”. Genetic Alliance UK also manage Rare Disease UK (the annual awareness-raising campaign) and SWAN UK (Syndromes Without A Name) support network (see above).
- Unique rare disorder guides to specific chromosome and gene disorders, as well as guides translated into various languages.
Parent stories
- The girl with a will to live: the love, hope and pain of raising Elsie – my one in 163 million daughter | Family | The Guardian – moving first person account of caring for a child with a rare condition:
- Family Stories | Rare People – The Research Charity
Studies
- 100,000 Genomes Project – a UK Government initiative sequencing 100,000 genomes from around 85,000 NHS patients affected by rare disease or cancer.
- Deciphering Development Disorders – a major clinical study, now closed, on rare syndromes
Want to meet other parents and carers with children like yours?
Amaze runs regular support groups for parents of children with omplex health needs and/or profound learning disabilities. We have an East Sussex and a Brighton group that meet monthly.
