Living with a genetic, rare or undiagnosed condition

Diagnosis at this time can be incredibly difficult for parents and loved ones. You might find it difficult to understand all of the information that you’ve been given, not only about the condition but how it might affect the lives of your child and your family.

A very important thing to try to remember is that everyone reacts to difficult news differently. You might find yourself in a range of emotions, including anger, frustration and sadness. You might even find that you experience feelings similar to mourning, as your mind and body process that your child has a genetic, rare or undiagnosed condition.

One step that you might wish to take quickly is to identify if there are any charities or wider groups for your child’s condition, as they can be a vital source of support and information – especially for conditions that are not well understood by most clinicians.

A practical thing to do is to identify who is your child’s primary or coordinating doctor. This might be the person who diagnosed the condition originally, or it might be a specialist that your child was referred to (such as a geneticist or paediatrician). With this information, you can ensure that your child’s condition is sufficiently monitored and treated based on best practice.

Personal Child Health Records (PCHRs), which are nicknamed ‘red books’ are given to expectant parents before the birth of their child. They log important information about the child – it’s important to ensure that information about your child’s genetic, rare or undiagnosed condition is also logged within the red book. This will help doctors to understand the needs of your child more easily.

You can access lots of practical advice and support for families supporting disabled children from Contact.

Teenage years and pre-adulthood can be a time of change and excitement for many. When someone lives with a genetic, rare or undiagnosed condition, these years can have additional challenges that are often hidden.

Depending on the condition, as a child becomes older it might mean that symptoms of their condition change as a result of increased hormones and overall growth. It might also be the time that a young person’s mental health becomes more strained, from perhaps things such as not hitting the same milestones as peers, or having visible differences to others. However, every individual and condition is different, and this might vary for yours or your loved one’s experiences.

Adolescence and young adults with additional needs might also encounter discussions around planning for the transition to adult care for the first time. Care across education, social care and health care is often done differently for children compared to adults – for example, a local hospital might have a specialist paediatric (child-focused) clinician for a condition, but the same hospital might not have a similar specialist for adults. When a loved one is moving into adolescence and young adulthood, it’s important to plan and anticipate the transition to adult care across all aspects of their life.

Depending on the condition, a desire to live a more individual and independent life might become greater during adulthood. What independent living will look like for you or a loved one is best thought about as early as possible, so that the right level of planning can be put into place.

Questions to ask when planning more independent living include:

• What are my personal needs and are they likely to change (either in the short or long term)
• How close to loved ones should I live?
• What type of property and housing will be suitable for me, and is this sort of housing available in my area?

Housing options to consider include residential housing, sheltered accommodation, supported living, and adapted properties. If you’re being supported by a social care worker, they should be able to help understand the options open to you.

All individuals with genetic, rare, or undiagnosed conditions who wish to pursue a job or career and are physically and mentally capable should be supported in doing so. Many such individuals enjoy fulfilling careers in various fields, finding great purpose and satisfaction in their professional lives.

Consistent employment can be challenging due to the impact of a genetic, rare or undiagnosed condition. Requesting reasonable adjustments from an employer, or discovering a role suited to your situation can help with this.

In the UK, discrimination in the workplace based on disability is illegal. Those living with genetic, rare, or undiagnosed conditions should be confident in their ability to succeed in the workforce without facing discrimination due to their condition. Disability Rights UK has lots of resources and advice on disability and employment.

Individuals and couples affected by a genetic, rare or undiagnosed condition might wish to start their own family. Many of these conditions are passed down from parents to their children (known as being ‘hereditary’).  You can find out more about how conditions are passed onto children here.

If you or a partner has a genetic, rare or undiagnosed condition, an important first step you might want to take is to speak with a genetic counsellor or geneticist. These professionals can discuss reproductive options with you, ways that might be open to you to screen for your condition during pregnancy, and any other precautions that you might want to be aware of.

Getting older when living with a genetic, rare or undiagnosed condition can lead to new situations and hurdles that a person or loved one hasn’t faced before. 

Many of the questions or challenges for an adult or older person with a genetic, rare or undiagnosed condition will likely be more holistic than purely healthcare-focused – these topics are covered further down on this page. 

From a health perspective, you might find that the focus moves away from establishing how to manage symptoms into more an area of ongoing management. Getting older might also mean new challenges for your condition, such as symptoms shifting or becoming more or less of an issue.

Discussing end of life and subsequent bereavement is never an easy thing to do, yet it can be vital. It’s important to have such discussions whether you yourself have a genetic, rare or undiagnosed condition, or if you’re a carer for someone who does.

End of life planning can provide clarity and reassurance, ensuring that final wishes and care arrangements are respectfully understood by loved ones and healthcare professionals. You should consider things like funeral costs, arrangements for ongoing care of loved ones, and any practical things like making the final phase of life as comfortable as possible.

When someone is approaching the end of their life, the healthcare focus might move to ‘palliative care’. This means a form of healthcare that is focused not on curing the person or helping them to recover, but instead on making them as comfortable as possible before they pass away. 

Palliative care is often done at a hospice, which is slightly different to a usual hospital. For some people, such as those with learning disabilities, thought should be given on things like communication methods and methods for managing any additional stress from shifting environments.

The death of a loved one can be incredibly difficult to accept or adapt to. For those who were carers of a now departed loved one, the gap left by that person can feel vast, with many different emotions coming to mind. Carers UK is a very good place to get resources about end of life if you’re a carer.

It’s challenging to contemplate or start these conversations, but those that do can find a form of comfort or peace of mind that when the time comes they have plans in place.

Many people in the genetic, rare and undiagnosed condition community will be unpaid carers. The vast physical, emotional and financial strain that’s placed on doing this can never be underestimated.

Those with carer’s responsibilities might be eligible for additional benefits and support, such as Carer’s Allowance and Carer’s Credit. Money Helper has a rundown of options that might be eligible to you.

It’s important that carers themselves are also cared for. Resources available to carers include support and information from charities like Carers Trust and Carers UK.

As someone gets to older age it might be that the ongoing support of a loved one from family members comes too challenging.

As parents grow older and their child becomes an adult themselves, it might become an increasing concern as to who will care for the adult child once the parents or other loved ones aren’t able to do so. It’s important to plan for such events as best as possible. Although there often isn’t a ‘perfect solution’, things to consider will include assisted living, live-in care, or third-party carers. The earlier these scenarios are discussed and planned for, the smoother it will all likely be.

If you’re a carer and concerned about what will happen to the person you care for when you pass away, charity Sense offers guides on long-term care planning, as part of their ‘When I’m gone’ campaign.

Siblings of children and adults with complex conditions can be affected by their brother or sister’s condition, even if they themselves don’t have the same health challenges. It’s important to be aware of this, to ensure that siblings also get the support that they need.

Siblings in these situations might grow up to be more quiet and independent compared to peers without a brother or sister with complex needs. You might find that the sibling is fearlessly loyal and supportive of their brother or sister, but that they take on a supporting role that impacts on their own wellbeing.

The charity Sibs is a fantastic charity and resource to understand how to support a sibling of a brother or sister with complex needs, including specific sections for child siblings as well as adult siblings.