When you should ask a healthcare professional to think again

As a parent, you know your child best. When something doesn’t feel quite right, your instincts are powerful and valid. That’s why it’s important to be aware of something called diagnostic overshadowing.

What is diagnostic overshadowing?

Put simply, diagnostic overshadowing is when doctors or other health professionals assume that a symptom or health issue is just part of having Down syndrome, rather than investigating the cause and potential treatment further. This can mean that real, treatable medical conditions get overlooked, leading to delays in care and unnecessary discomfort or lack of treatment for your child.

Why is this important?

Children with Down syndrome are more likely to experience certain health conditions, like thyroid disorders, heart conditions, digestive problems, gastrointestinal issues, and sleep apnoea. It’s vital that you tell your doctor or healthcare provider about your concerns as a parent, so that any symptoms are taken seriously, investigated, and potentially treated, rather than brushed aside. As a parent, advocating for thorough medical checks can make a significant difference to your child’s health and wellbeing.

Common examples

Growth concerns. A child with Down syndrome might be considered “typically small”, but underlying issues like coeliac disease or hypothyroidism may be the real cause. The DSMIG (Down Syndrome Medical Interest Group) Red Book insert has guidance on recommended blood tests and monitoring.

Fatigue and low energy. Often attributed to a child having Down syndrome, but this could indicate anaemia, sleep apnoea, thyroid dysfunction, or an undiagnosed cardiac condition. It’s important to highlight any change in behaviour or pattern, and to stress the need for assessment.

Digestive problems. Reflux, constipation or food intolerances might be overlooked as simply common in Down syndrome, rather than properly investigated and treated.

Constipation. This may be attributed to slow gut transit but not treated properly. Laxatives can be helpful and may be considered long-term if needed. It’s worth discussing this directly with your GP or paediatrician.

Behavioural changes. Anxiety, discomfort or frustration may be dismissed as “typical behaviour” rather than recognised as symptoms of pain, sensory issues, an inability to communicate, or an undiagnosed medical condition. Highlight any change from your child’s typical behaviour.

General advice

It helps to make your child or young person familiar with healthcare settings, so they’re not anxious when they go in to be seen. A visit to look around when they’re well can make a real difference.

For young people aged 14 or above, an Annual Health Check should be offered by their GP surgery. This helps familiarise staff with them, their communication and their general demeanour, so that any changes are easier to flag. It’s also a good opportunity for your young person to become familiar with these visits and, if able, to start advocating for themselves.

Questions to ask professionals

When discussing concerns with doctors, asking the right questions can help ensure your child receives a thorough evaluation. If you feel a concern is being attributed to your child having Down syndrome rather than properly investigated, here are some key questions to consider:

• “What would you be suggesting we consider or test for if my child didn’t have Down syndrome?”
• “Could this symptom be linked to another medical condition? What tests can we do to rule that out?”
• “Is there a specialist we should consult to get a second opinion?”
• “How do we determine if this is a particular health condition rather than just part of my child having Down syndrome?”
• “Can we try a treatment plan or lifestyle change and monitor if symptoms improve?”

Trust your instincts. If you feel something isn’t right, push for further investigations.

Keep records. Document symptoms, behaviours and any changes over time, to provide clear evidence to medical professionals.

Seek second opinions. If concerns are dismissed, consider consulting another doctor or specialist.

Join DSUK’s online support networks and local groups. Connecting with other parents can provide valuable insights and shared experience.

Martha’s Rule: when you’re worried your child is getting worse

Martha’s Rule is an NHS patient safety initiative designed to ensure that concerns raised by patients, parents, carers and families are listened to and acted upon. It recognises that those who know a child best are often the first to notice when something isn’t right. If you’re worried that your child’s condition is getting worse and you feel your concerns aren’t being fully addressed, Martha’s Rule gives you the right to request a rapid review from a different clinical team.

This is particularly relevant for families of children and young people with Down syndrome. Sometimes changes in health, behaviour, communication, energy levels or wellbeing can be wrongly attributed to Down syndrome itself rather than being recognised as signs of illness or deterioration. As a parent, you should feel confident in speaking up if your instincts tell you something is wrong. Diagnostic overshadowing and Martha’s Rule are closely linked because both emphasise the importance of listening to concerns and investigating symptoms properly.

How Martha’s Rule can help

If your child is in hospital:

• Tell the clinical team immediately if you notice changes that concern you.
• Explain what is different from your child’s usual behaviour, communication, eating, sleeping, mobility or energy levels.
• If you’re still concerned after speaking with the ward team, ask whether Martha’s Rule is available in that hospital and how you can request a rapid review.
• Remember that seeking another clinical opinion isn’t being difficult. It’s an important part of ensuring your child’s safety.

Useful phrases to use

• “I know my child well, and this is not normal for them.”
• “I’m worried that my child’s condition is getting worse.”
• “Could we consider whether there is another medical cause for these symptoms?”
• “I would like to know whether Martha’s Rule is available here.”
• “Can we request a rapid review because I remain concerned?”

Why Martha’s Rule exists

Martha’s Rule was introduced following the death of 13-year-old Martha Mills, whose family’s concerns about her deteriorating condition weren’t acted upon quickly enough. The initiative is helping to create a culture where families are encouraged to speak up and where their concerns are taken seriously. If your instincts tell you something is wrong, it’s always appropriate to ask questions, seek clarification and, where necessary, ask healthcare professionals to think again.

Parent experiences

Diagnostic overshadowing isn’t an abstract concern. It happens, and the consequences can be serious.

One parent told us: “After the fourth trip to A&E in a week, our son was admitted later that day with a urachal abscess. He required four-hour emergency surgery, and his recovery took three months.”

Another shared: “Harvey was sent home from the GP and A&E on numerous occasions. We later found out Harvey had stage four high-risk neuroblastoma, which was fatal. If we had had an earlier diagnosis, who knows how different the outcome may have been.”

These aren’t isolated stories. In a DSUK survey of 50 professionals who work, or would potentially work, with babies with Down syndrome, 30% said they weren’t sure or didn’t think a baby with Down syndrome would be able to breastfeed. In reality, our research shows that 77% of women breastfed their babies, and that at six months, 66% of babies with Down syndrome were still being breastfed.

Assumptions like these, however well meaning, can shape the care a child receives.

When you should ask a healthcare professional to think again

As a parent, you know your child best. When something doesn’t feel quite right, your instincts are powerful and valid. Sometimes, being a good advocate for your child means being prepared to ask a healthcare professional to think again. That’s what diagnostic overshadowing, and this guide, are about.

Your voice matters

We know that your child’s health and happiness mean everything. By understanding diagnostic overshadowing, we hope we’re giving you the confidence and tools to speak up, ask questions, and make sure your child gets the care they need. Don’t be afraid to trust your instincts, whether that’s asking for a test, getting a second opinion, or simply saying, “something doesn’t feel right.” Your voice matters, and your advocacy can make all the difference.

Prepare for your next appointment

Knowing what to ask is one part of advocating for your child. Walking into the appointment prepared is the other.

We’ve also created a free AI-supported guide to help you organise your thoughts, symptoms and questions before any healthcare appointment, so you feel ready to speak up when it counts.