So you have just received a CHD2 diagnosis – what next?

“When my son was aged 17, the headteacher at his special school told us that ‘your son is one of the most complex children I have ever met in my 30 years of working in Special Needs’… I wish we had been told this earlier as I would have insisted on more support from local services”
Parent of a child with CHD2

It is very easy to assume you are on the same pathway as the other children that you see around you with special needs. You will find that you will compare yourself and your child with others and start to berate yourself for not coping as well. At times it may feel overwhelming.

For the majority of parents, you need to accept that you have a very complex child, so as soon as you receive a diagnosis start to consider what help is out there to support you.

It is also important to note that no child is the same. CHD2 related disorders may differ in how they present and there may be a wide range of symptoms or, indeed, ability.

After diagnosis

After diagnosis, it is extremely important to be well equipped for the journey ahead. CHD2 is an ultra rare genetic condition so it is wise to acquire as much information as possible in order to inform the decisions you make about your child’s future health and development.

Ask your geneticist, health professional or specialists to provide information and published articles about CHD2. They should also be able to recommend relevant websites and dedicated support groups. If this isn’t forthcoming then contact an organisation which specialises in genetic conditions, such as Unique and Genetic Alliance in order to access their expertise and resources. A list of important UK support groups can be found below.

From personal experience these are the three elements you will need to be mindful of:

You will need a support group of families who you can talk to, who understand and can empathise with what you are going through and support you emotionally when times are tough. They can also provide advice, encouragement and signpost you to relevant resources. Siblings may also need to be supported and will need their own strategies for coping (see our Sibling Group).

You will need to understand what services are available and the relevant specialists who can support you. You need a good understanding of the law and what you are entitled to in the UK.

You need to look after yourself and your mental health and get sufficient breaks and respite so that your caring role remains sustainable in the long term.

Support Groups – UK & Worldwide

The CHD2 UK Support Group was formed in November 2023, initially as a WhatsApp Group. It has now expanded to over 40 members. A Facebook page followed in 2024 and we now have a dedicated website.

Our families are hoping to have a UK meet-up in the near future.

Our website is designed to inform and support those families and siblings who are caring for a child or adult with a CHD2 related disorder in the UK. Personal experience has revealed that Health, Education and Social Care do not have a clear understanding of what an ultra-rare genetic condition such as CHD2 involves, how it presents and what type of support is required, not just for the individual but for parents and carers.

It is hoped that this website may become the first point of contact in the UK in order to inform these professionals.

Other important sources of information

Over ten years ago a CHD2 Support and Research Group was set up on Facebook which has slowly grown over the years and is now a very active worldwide community.

Coalition to Cure CHD2 is a coalition of parents with a desire to help their children and others with CHD2-related disorders. It contains a lot of important information including case studies from parents talking about their loved one with a CHD2 related disorder. This group’s mission is to improve the lives of those affected by CHD2-related disorders by funding research necessary for uncovering a cure. With this in mind it is important to enrol in any natural history studies which might be taking place: these can be found on their website. Please also register on their world map as it is with thanks to this group that they have established that there are currently >300 registered cases of CHD2-related disorders worldwide and growing.

Coalition to Cure CHD2 also has a Facebook page, and can also be found on YouTube, X, Instagram and LinkedIn.

Simons Searchlight is an online international research program for over 175 rare genetic neurodevelopmental disorders (CHD2 is one of them). By joining their community and sharing your experiences, you contribute to a growing database that scientists worldwide use to advance the understanding of these conditions.

Simons Searchlight can also be found on Facebook, X and YouTube.

Specialist services and professionals in the UK

If your child has been diagnosed with a CHD2 related disorder in the UK there are a number of organisations who will get involved. Not all these specialists will be required, but it important that you have a clear understanding of what is available.

These organisations and the titles of particular specialists may differ in Scotland, Northern Ireland and Wales, but the services they provide will remain the same.

Education

Education is there to support and educate a child/young person through the first 25 years. Education professionals likely to be involved in your child’s care include:

Teaching assistant – usually one of the most important people as they are providing 1:1 care for your child each and every school day.
Class Teacher
SENCO (Special Educational Needs Coordinator)
School Nurse
Sensory Specialist
Assessment Review Officer for the Education, Health and Care Plan (EHCP)
Early Years Professionals
Educational Psychologist
Educational Psychiatrist

Health

Health professionals are also available to support you:

General Practitioner (GP) (Local Health Centre)
Consultant Paediatrician (Local hospital)
Paediatric Neurologist (Local hospital)
Epilepsy Nurse Specialist (Local/regional hospital)
Consultant Neurologist (Regional Hospital)
Geneticist (Regional centre)
Speech and Language Therapist (Local hospital)
Occupational Therapist (Local hospital but also available through Education in some councils)
Dietitian, Ketogenic Diet Nurse Specialist (Local or Regional hospital centre)
Optician, Ophthalmologist, Audiologist, Orthopaedic Consultant, Learning Disability Dentist etc.
If your child’s physical health needs are deemed as being complex or profound you may be offered a ‘continuing care package’ similar to that of Continuing Healthcare (CHC) in adult services.

CAMHS – Child and Adolescent Mental Health Service – usually requires a GP referral

Your local Child and Adolescent Mental Health Service (CAMHS) will have a Learning Disability Team offering specialist psychological, emotional and behavioural support for children and adolescents with a learning disability and their families.

CAMHS Practitioner (from a variety of backgrounds including nursing, social care or youth worker)
Mental Health Nurse
Clinical Psychologist
Clinical Psychiatrist
Family Therapist
Cognitive Behaviour Therapist
Psychotherapists

Social Care

Social care which is funded by your local authority provides services and respite support for you and your child up to the age of 18 or thereabouts. This is subject to an assessment of your child and also yourself as a carer. A further assessment will be required before accessing adult services.

Although local authorities in England don’t usually charge for the services they provide to children this has recently started to change. If this is the case your local authority will have their own charging policy which is usually means tested so it would be your income and savings as a parent that would be taken into account. Your child’s DLA should not be taken into account.

When your child reaches 16 years or older in England this changes and it will be their own income and savings that will be assessed to see if they have to pay a charge for any services provided to them.

Specialists include:

Early Help Support Assistant
Social Care Coordinator
Personal Assistants

Respite support for yourself, family and siblings

You will need time to yourself to rest and recharge your batteries so that your caring role remains sustainable in the long term.

Children’s services

In children’s services you should be looking to Social Care to provide respite. If you haven’t done so already, register for a social care assessment for your child and also a carer’s assessment for yourself. If, after an assessment, no support is forthcoming, make a complaint and appeal the decision.

You will also find that most Local Councils have a Short Break Scheme which you can access. This is an opportunity for parents and carers of a disabled child to have a break from their caring responsibilities, a chance to rest, spend time with your other children and give brothers and sisters an opportunity to enjoy family time too. You can use your break time to enjoy leisure activities or, if you are studying, to support your studies. It also gives your CHD2 child a break from you – their primary carers.

Siblings

Siblings also need respite time away from the home to give them the opportunity to develop a sense of their own identity. Many local charities provide respite support for siblings and many arrange regular sibling group meet-ups where they can go to meet other children and teenagers in a similar position. CHD2 UK runs its own private Sibling Group led by Georgia whose brother, Kauri, has a CHD2 related disorder. It is important that siblings can talk candidly about issues they wouldn’t be able to talk to their parents about, share experiences and feel that they are not the only one in their situation. Often charities will run residential field trips for siblings, not just to give them a much-needed break but also to provide opportunities to try new activities which might not be readily available to them.

Parent carers

It is also important to track down your local parent and carer groups who arrange meet-ups, trips and other events. These are extremely important to join as you can meet new friends, share your experiences and usefully discover what and how much support other families are being offered by your local council. These groups may also signpost you to other families in a similar position, who might recommend or have valuable insight regarding local mainstream and special schools. Another advantage is that you can arrange play dates, trips and other social activities with one another and as a group during the long school holidays.

Adult services

In adult services you may find you are supported by Social Care, Continuing Healthcare (NHS) or both. It is important to note that once your young person becomes an adult then responsibility falls heavily on adult services to provide an increased level of support. This is your opportunity to take a step backwards and consider your own physical and mental health and future aspirations.

U.K. websites

Genetic Alliance is a charity working to improve the lives of individuals and their families affected by genetic, rare and undiagnosed conditions. You can learn more about genetics, living with a genetic condition, finding a support group and lots more on their website.

Website: www.geneticalliance.org.uk

Email: contactus@geneticalliance.org.uk

Unique – a charity which provides a wealth of information guides about rare chromosome disorders and some autosomal dominant single gene disorders associated with learning disability, amongst other symptoms. They also run a telephone and email support helpline.

Website: www.rarechromo.org

Email: info@rarechromo.org

Helpline 01883 723356

Swan – If a genetic diagnosis cannot be made, contact SWAN (Syndromes Without A Name) UK for further advice. SWAN UK (run by Genetic Alliance) is the dedicated support network available for families of children and young adults with undiagnosed genetic conditions in the UK.

Website: www.undiagnosed.org.uk

Email: info@undaignosed.org.uk

Cerebra – supports children with complex needs and their families. Their resources offer comprehensive and current information and advice on a wide variety of topics, including physical, social and legal issues. Support is also available via their Sleep Advice Service, their Cerebra Innovation Centre, book and toilet library and Legal Right Service.

Website: https://cerebra.org.uk/

Email: enquiries@cerebra.org.uk

Helpline: 01267 244200

Contact – is the main UK charity that supports families with disabled children. They run advice, information and support services (online, print and helpline). They also run workshops, events and support groups for parents & carers of disabled children.

Website: https://contact.org.uk/

Helpline: 0808 808 3555