Early days
Receiving news of a diagnosis, and managing the first few weeks and months
Receiving news of a diagnosis
You may receive news of your diagnosis after a long period of trying to clarify more about your own, a partner’s, or your child’s health or additional needs. You might feel some sense of relief or it might still feel unexpected.
Sometimes a diagnosis can also be delivered ‘out of the blue’ without much warning at all. This might have been after treatment or investigations for another health issue. A diagnosis can then feel a considerable shock.
How emotionally ‘ready’ you feel for a diagnosis will also inform to some extent how you respond and feel at the time.
News of your diagnosis might come:
- in an appointment with a doctor or other healthcare professional
- from a genetics counsellor
- via letter or phone call
- accidentally or ‘in passing’
Receiving the diagnosis of a rare condition is always a life-changing moment.
Many people remember a lot about how and when they were told about their diagnosis. This might include small details such as the room, the weather, or what you – or the person who gave you your diagnosis – were wearing that day.
Ideally, you will be given the opportunity to ask questions, be provided with clear and supportive information including ‘next steps’, and be put in contact with a rare condition organisation.
If your condition is genetic you may have the opportunity to speak with a genetic counsellor if you have not done so already.
I sort of knew what they were going to say as there were so many signs, and across my family too. It wasn’t a relief exactly, more ‘ok, now we know.’
Lots of appointments… or ‘watch & wait’?
The early weeks and months after a diagnosis will vary a lot depending on your condition. They might be a ‘whirlwind’ of tests, scans or appointments as doctors try to find out as much as they can about your health. It probably won’t always be as busy in the future.
For other conditions, the early days are slower paced. You might have been told to ‘watch and wait’, or come back if and when symptoms start to appear.
We were given the diagnosis when she was 11 months. The doctor said to ‘keep an eye on her’ and get in touch if we needed to. I said to my partner after ‘keep an eye on what though?! We felt very in the dark.
Reimagining the future
Everyone comes to terms with the news of a diagnosis in their own way and own time. You might have very different feelings about it at different times. Not everyone in your family might respond the same way either. There is no right or wrong way to feel.
One of the things that you will experience is ‘re-imagining’ the future. This will involve a period of ‘letting go’ of the future you had in mind for one that now includes the impact of a rare condition.
This can involve lots of different thoughts and feelings depending on the condition and how it will impact you, or someone you care about. We talk about some of the common feelings here.
Impact on family relationships
A diagnosis might bring you and your family closer.
Sometimes, it can also cause tensions. This is usually because of all the strong feelings involved, especially for inherited genetic conditions.
Remember that different family members all have their own personal coping mechanisms. For example, one person might want to talk a lot about it to help them come to terms with the news, but another wants to be much more private about it all.
Therapist Tip
Everyone comes to terms with difficult news in their own way. Responses and feelings can change over time. If someone responded unhelpfully to you initially, it might still be possible for that to be different in the future once they have got more used to the news.
Keeping track of appointments
It can be easy to lose track of ‘who said what, when’, or ‘what happens next’. In the early days use your smartphone notes or a specific notebook before and after appointments. This can help you remember what you want to ask and what you were told.
You may not want, or have someone who can, attend appointments with you. However, if you do, they can be very helpful in taking notes or looking after your child whilst you ask questions.
Have a file or sturdy cardboard box to keep letters in. This will help you keep track of what tests or results you have had (and when) and also the contact details for the hospital departments or doctors.
You could also keep digital copies of these by taking photos or making scans of letters with your phone.
Some rare condition organisations also have Apps or ‘passports’ to help you keep track of your health record.
Learning about your condition
How much information you want to know about your rare condition will be very personal to you and your situation.
You might be someone who likes to find out as much as you can straightaway, or you might be someone who prefers to only know something when you need to.
It can be helpful to let other people (including your doctors) know which you would prefer. This might also change over time. It might also depend on whether you are the person affected by a rare condition, or caring for or supporting someone else.
There were so many new medical terms and words I didn’t know. I took one word a day for a while and then looked them up so I didn’t get overwhelmed.
Talking about your rare condition
Pace yourself
There can be a lot to take ‘on board’ and come to terms with in the early days of a diagnosis.
Try to make time to still do the ordinary things that you enjoy. This could be alone, or with people you feel close to. This includes small things like watching TV programmes that you like or activities that are meaningful for you.
This ‘time off’ helps remind you that your rare condition is part of your life, but not all of who you are. These activities can also be good distractions for managing any worry or stress you might be feeling.
Make contact with a rare condition organisation
Rare condition organisations are often a great source of information, support and advice. You can be as involved or in contact as much or as little as you like, but just even knowing they are there can be very reassuring.
I didn’t want to have much contact as I was only just about coping with my own feelings . Now I ‘dip in and out’ … I’m a silent group member.
What Helps?
Allow for feelings
- Talking about how you are feeling or what you are thinking, helps with processing thoughts and feelings.
- Talk to someone you trust like a friend or family member, someone from a rare condition organisation, or a counsellor.
- Take ‘time off’ to do things you enjoy to give you time to process your emotions.
Pace yourself
- You are taking in a lot of new information, and processing a lot of thoughts and feelings.
- Try to reduce the number of practical demands on yourself for a period of time.
- Consider taking time off work if you can or need to.
- Ask for help if you need it.
Try not to ‘google’ late at night
- We all tend to be more in touch with worry and fear at night, so try to stick to daytime research.
- Try and use trusted sources of information like the NHS or rare condition organisations.
- Remember what you read may be ‘worst case scenario’.
Resources & useful links
Gene People have information about how to talk to young children about a genetic condition.
Genetic Alliance UK can assist you with finding information and a patient organisation for your condition.
Same But Different provide a range of support for families with rare conditions, including on adapting to a diagnosis.
SWAN UK (syndromes without a name) supports families living with genetic conditions so rare that they can be very difficult to diagnose.
Unique have a library of leaflets about specific chromosome and single gene disorders.
Related pages
Looking for a diagnosis
Tips for waiting for and going for genetic testing
Early days
Receiving a diagnosis, reimagining the future, pacing yourself
Living with a rare condition
Rare challenges, ‘expert by experience’, living as well as possible
You and your emotions
Acknowledging your feelings, how to manage them, finding hope