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Dealing with diagnosis

Is your child on the waiting list to receive a diagnosis? Or have you just received one and not sure what comes next? Here we detail the key times they happen and the help available through the process. Whether a diagnosis has changed everything or made little difference to family life, we have information, advice and practical resources to help you.

Diagnosis during pregnancy

To assess if there are any underlying conditions affecting mum or baby, women are offered routine screening during pregnancy.

Some screening tests are much more accurate than others. Screening tests for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome do not give a definitive result, and only tell parents if their baby has a higher or lower chance of having one of these conditions. If the result shows that there is a higher chance of a condition being present, further diagnostic tests may be offered to gain a more conclusive result. These tests may be more invasive. You can find more information about these on the NHS website.

Women are offered screening tests during pregnancy for:

Screenings and diagnostic tests are a very personal choice, so talk to your family, your midwife and your doctor to make sure that you understand everything involved and can make an informed decision that you feel comfortable with.

Birth and first-year diagnosis

Babies will be offered screening tests in the first 6 to 8 weeks of their life. For babies born with a health problem, screening and early treatment can improve early treatment, and possibly prevent severe disability or even death. Physical examinations, newborn hearing screening test and newborn blood spot (heel prick) test are all routine screenings which take place either whilst you are still in hospital with your baby, or when you have been discharged.

Some parents will receive a diagnosis after their child is born due to:

  • a problem that developed before birth
  • a problem during birth, such as lack of oxygen or premature labour
  • a childhood illness

In the first year, it can be difficult to spot early signs of a condition. Lots of children are late reaching developmental milestones and it doesn’t mean there is anything to worry about. However, there may be some additional clues including:

  • having trouble feeding, sucking or digesting
  • a delay in learning to sit or stand
  • a delay with speech or learning new words

On the other hand, some developmental difficulties such as problems with eyesight or hearing, learning disabilities and autism can have definitive causes.
Getting the support of your health visitor or GP is really important. If your child has not received a diagnosis but you have concerns about their development, ask for a referral to a specialist as early as possible as waiting lists can be very long.

Early years diagnosis

If your child does not attend early years setting and you think he or she may have SEND, talk to your doctor or your health visitor. If your child does attend an early years setting, check that they can support your child’s needs.

All early years settings – such as nurseries, playgroups and childminders – must be registered with Ofsted. This also means they have to follow the Early Years Foundation Stage (EYFS). This is a legal framework that states that these settings must have arrangements in place to support children with SEN or disabilities.

EYFS includes:

  • written progress reports when a child is 2 years old
  • ongoing observations
  • written assessment in the summer term of the reception year in school.

Parents can find useful information about support for children under 5 who have SEN or disabilities in Chapter 5 of the 0-25 SEND Code of Practice.

As a child progresses into primary school and beyond, they may need an Education, Health and Care Plan (EHCP).

School-age diagnosis

It is often parents or teachers who become aware that a child is having difficulty in certain areas, and may advise looking into a diagnosis for your child. Most children of school age who have SEND attend mainstream schools, but specialist schools and home education are also options depending on your child’s needs.

If your child has SEND, their school has a duty to support them the best they can. This may involve getting support from external professionals such as a speech and language specialist or an educational psychologist. If your child’s needs aren’t being met, then you may consider an EHCP. This is a legal document. The local authority will usually ask for supporting evidence from the school, you as parents and your GP. If you don’t already have a diagnosis, this may be the time that you receive one.

EHCP’s

An important step in dealing with your child’s diagnosis is getting an EHCP (Education, Health and Care Plan). This is a document which sets out the education, health and social care needs your child has, and the support that is necessary to cater to those needs.

To get an EHCP, your child must first undergo an ECH needs assessment, to accurately identify their SEN and form the basis for the plan. This is conducted by your Local Authority.

For more information on EHCP’s and ECH needs assessments, see our article on Understanding Education, Health and Care Plans.

You can find out more about EHCP’s and get tips on how to write a good plan at The Council for Disabled Children website.

If you don’t receive a diagnosis

Some conditions are difficult to diagnose, and for some genetic conditions, testing has failed to identify its genetic cause. Although a diagnosis won’t significantly change family life, it can open doors to emotional, financial and practical support. Even without a diagnosis for your child, there are organisations out there to help you access these support streams.

Rare Disease UK is a campaign for people with rare diseases and those who support them. It is run by Genetic Alliance UK.

SWAN UK (Syndromes Without A Name) is the only specialist support network in the UK for families of children and young adults affected by a syndrome without a name.

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