Rare Diagnosis

Reaching Families and Amaze Factsheet

Reaching Families and Amaze have worked in partnership to produce a series of informative factsheets written by parent-carers for parent carers. These include a series of factsheets on specific conditions designed to be used by parents when they receive their child's diagnosis, to help them get a better understanding of their child's condition and understand what support is available to them locally. This series of factsheets have been reviewed by NHS clinicians. Parent-carers were involved at all stages of the editorial process.

What are rare syndromes?

A condition is classified as ‘rare’ if it affects fewer than five people in every 10,000. however, in some cases, families may find that their child has been diagnosed with a condition that is so rare that there are only several cases in the whole of the UK, europe, or even the world. this can make parent carers feel isolated, as they may feel that no one truly understands what they and their child are going through.

However, for some rare syndromes, international support groups have been established to link people around the world so they can help each other and share information. Parent carers whose child has a new diagnosis of a rare syndrome may find it useful to start with Unique, or Syndromes Without a Name (SWAN), see page 2 for details, which hold information for many of these organisations.

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Getting a diagnosis

It can be very difficult for families to get a diagnosis for their child. the first step is to request a referral to your NhS Regional Genetics centre. You can do so through your community Paediatrician or GP. The process involves medical staff taking samples from your child with the aim of identifying a genetic cause for their condition. See page 2 for contact details.

It’s important to remember that even with genetic testing, there are still many conditions that 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.

Medical advances, particularly in genetics mean that new conditions are being identified all the time.

A major clinical study ‘Deciphering Development Disorders’ is collecting genetic information from around 12,000 children. By using new testing methods and techniques, it hopes to increase the chances of finding the causes of rare syndromes; and the diagnosis rate for children with these conditions.


What if a specific diagnosis is not possible

Sometimes clinicians are unable to give you a reason and name for your child’s difficulties. this can be very frustrating, as parent carers often want to know why their child has a disability and what caused it. Instead specialists may describe the characteristics of the condition. For example, they may say that a child has a ‘learning disability’ but not be more 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.

Many parents also want to know what the future will hold for their child, and what the implications might be if they want to more children. For more advice, see the ‘Living without a diagnosis’ fact sheet, which can be downloaded from: www.reachingfamilies.org.uk


Types of treatment

Some parents worry that if their child has an incredibly rare syndrome that they will not be eligible for support. however, you should be able to access the support of the same services as other families whose children have disabilities. It is worth remembering that many strategies and techniques work for all sorts of different conditions, so these can be adapted to help your child, too. The types of treatment needed for children with rare syndromes will vary according to their individual symptoms and needs. however, some of the following therapies may be suitable:

Occupational Therapy (OT) – can help your child gain independence and master everyday tasks such as eating and going to the toilet.

Physiotherapy – intervention to help a child to maximise their range of movement and improve posture.

Speech and Language Therapy (SALT) – can be useful in helping children speak or develop alternative means of communicating such as sign language, for example.


Ask about

Child Disability Service – a social work service for children and young people with severe and/or complex disabilities, it works with families and other agencies to ensure they get the right support. call: 01403 229888 or email: [email protected]. Please note that some children may be referred on to the MASh (see contact details below).

Compass Card West Sussex – a free leisure discount card for 0 to 25 year olds with SeND, which is run by Amaze. Find out more at: www.amazebrighton.org.uk or by calling: 0300 123 9186.

Independent Support – Amaze’s Independent Supporters provide advice and support to parent carers and young people applying for or transferring to an ehc Plan in Sussex. For Sussex Independent Support, call: 0300 123 7782.

MASH – support from health and social care. If your child is under 18, call the MASh, tel: 01403 229888, email: [email protected]. For over 18s call the Adult Social carePoint: 01243 642121, or email: [email protected].

NHS Regional Genetic Centres – the centre for West Sussex is South West thames Regional Genetics Service, c/o Department of Medical Genetics, St George’s University hospital, cranmer terrace, London, SW17 0Re. tel: 020 8725 2038. For information go to: www.southwestthamesgenetics.nhs.uk.

Portage – a home-based educational programme tailored to a child’s individual needs. Available to very young children. chichester: 01243 536182, crawley: 01293 572480, horsham and Mid-Sussex: 01444 243150, Worthing: 01903 242558.

• Other resources – the Ashdown club, Worthing: 01903 528607; Kangaroos, haywards heath: 01444 459108; PAcSO, chichester: 01243 533353; Springboard Project, crawley: 01293 531963, horsham: 01403 218888.


Making Sense of it All – our handy parent/carer guide contains information and advice on benefits, support for your child at school, getting help from social services and accessing social & leisure activities – www.reachingfamilies.org.uk.

Children Living with Inherited Metabolic Diseases (Climb) – go to www.climb.org.uk, call their freephone helpline: 0800 652 3181 or email: [email protected]

Contact A Family – has a guide, ‘Living with a rare condition’ which can be downloaded from their website: www.cafamily.org.uk. Also runs ‘Making contact’, a networking service that matches families whose children have rare conditons. email the family linking officer: [email protected] or visit: www.makingcontact.org.

Deciphering Development Disorders – a major clinical study on rare syndromes. Go to: www.ddduk.org for more information.

Disability Living Allowance (DLA) – your child may qualify for DLA, a state benefit that will help with their care. For further information visit: www.gov.uk and search for ‘DLA’.

GeneticAllianceUKwww.geneticalliance.org.uk,tel:02077043141,oremail:[email protected].

Orphanet – lists european patient organisations for rare conditions. Go to: www.orpha.net.

Syndromes Without a Name (SWAN UK) – go to: www.undiagnosed.org.uk.

Unique – a rare chromosome charity. See: www.rarechromo.org, tel: 01883 723356 or email: [email protected].