Relatively common symptoms can hide underlying rare diseases — leading to misdiagnosis and treatment delay.

It is estimated that 300,000 people are living with rare diseases in Ireland today. Despite this, our healthcare system is designed for those living with common chronic diseases.

Many types of rare diseases

A rare disease is defined in accordance with EU rules as a condition that affects less than 1 in 2,000 people. Rare diseases that we often hear about include childhood cancers, cystic fibrosis, epilepsy, meningococcal meningitis, PKU (phenylketonuria), sickle cell anaemia and spina bifida.

There are however over 6,000 different rare diseases known today, and 85% of these are considered ultra-rare, affecting less than one per million population. Genetics are the root cause of 72% of rare diseases with infections, allergies and environmental causes implicated as the causes of non-genetic rare diseases.

Children living with rare diseases have an enormous impact on our healthcare system.

Often misdiagnosed

Rare diseases are characterised by a wide range of symptoms that vary from disease to disease and from person to person with the same rare disease. Relatively common symptoms can hide underlying rare diseases — leading to misdiagnosis and treatment delay. Due to small numbers, medical expertise and knowledge can be hard to find, especially with our relatively small population.

With early symptom onset, 70% of rare diseases appear first in childhood. They are typically progressive, degenerative and life-long conditions, sometimes causing premature death. A recent publication states that 4.2% of children born in Ireland (in the year 2000) were diagnosed with a rare disease before age 18. Sadly, almost 12% of these had died before reaching adulthood. In fact, among children who died under the age of 15 years, almost 60% had been previously diagnosed with a rare disease.

Impact on young people

Children living with rare diseases have an enormous impact on our healthcare system. Those born in 2000 and living with rare diseases used over half of hospital bed days from birth to their 18th birthday and 60% of teenage bed days — as compared to their contemporaries not living with a rare disease — despite representing only 4.2% of those born in that year.

Today, not many rare diseases have treatments. However, as awareness increases and research continues, there is increased investment in and successful development of new rare disease therapies and treatments. In 2021, the first curative gene therapy was approved for use in Ireland. There is reason for optimism.

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Investment in early childhood is proven to be highly cost-effective. Knowing the challenges will help focus resources and treatment initiatives.

Among the greatest challenges affecting children’s health in Ireland today are poverty and unequal access to care, further exacerbated by significant increases in the cost of living. Presently, 3,137 children are homeless, and many more cannot access the care they need.

Limited access to healthcare

There has been a significant increase in children seeking asylum in Ireland compared to 2021. The issue of children from vulnerable or marginalised backgrounds encountering obstacles when engaging with the Irish healthcare system is all too familiar.

Mental health issues have increased since Covid-19, and services are overstretched. Anxiety, eating disorders and functional disorders are all on the increase and waiting lists are challenging. The childhood obesity surveillance initiative (COSI) reports that one in five Irish school children are either overweight or obese. Significant numbers of these children also suffer from associated physical and psychosocial challenges.

Paediatric workforce issues

Long waiting lists for outpatient appointments have soared with the pandemic, particularly for children with developmental needs. Recruiting multidisciplinary teams has been challenging, and access to vital care for children with complex care or mental health needs in hospital and community settings is a growing concern. Integration with other healthcare services is essential.

It is becoming more difficult to recruit and retain paediatric trainees. Inequitable remuneration needs to be addressed to ensure we continue to attract the best quality trainees and retain our wonderful young paediatricians.

Developing the local and regional paediatric departments so that paediatric trainees can learn within the planned hub and spoke model of the New Children’s Hospital and being European Working Time Directive-compliant is of paramount importance. The increasing number of female doctors in paediatrics requires appropriate workforce planning to accommodate increased flexible training and job sharing as normal practice.

It is becoming more difficult to recruit and retain paediatric trainees.

How to address the challenges

There are signs of positive change to advance paediatric services in Ireland, and we begin to address some of these challenges.

The Lynn clinic at Children’s Health Ireland, established in October 2020, provides Paediatric Inclusion Health (PIH) care to children experiencing social adversity. Named in honour of Dr Kathleen Lynn, The Lynn Clinic has already shed much-needed light on important health and social metrics for various groups at risk of marginalisation.

The Irish Paediatric Acute Transfer Service (IPATS) is also making a difference to children, their families and paediatricians. Established in 2014 as part of the National Ambulance Service, IPATS brings the Paediatric Intensive Care Unit level of care to peripheral hospitals.

Accommodating more children

In Ireland, approximately 1,500 children per year will require critical care. Around 450–500 of them will present to paediatric units outside of the two main paediatric hospitals. In 2021, IPATS saw a 160% increase in transports as paediatric respiratory illnesses rebounded post-lockdown. Currently operating seven days a week during daytime hours, additional HSE resourcing will see IPATS extended to a 24/7–365 service. Once a 24-hour service is established, it will be welcomed by all units to safely transport critically ill children.

We must continue to build on such initiatives to guide future developments that will at least start to address the challenges facing our nation’s children and their families.

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Approximately 60,000* babies are born in the State every year and, as children (under 18 years) account for approximately 25% of the Irish population (1.19m projected for 2022), Ireland has one of the youngest populations in the EU.

The HSE National Healthy Childhood Programme has a key role in supporting families as they progress from pregnancy, through to baby and early years.

Parent-led expert resources

The HSE’s NHCP provides a series of core infant and early childhood checks, complemented by its mychild.ie website and books developed by experts and informed by parents’ needs.

The books and website are developed and designed to be a one-stop-shop where parents and parents-to-be can get accurate and trusted information on pregnancy through the first five years of their child’s life. Information provided throughout the resources is based on research evidence, clinical best practice and the practice wisdom of over 80 subject matter experts.

Information provided throughout the resources is based on research evidence, clinical best practice and the practice wisdom of over 80 subject matter experts.

Diverse backgrounds

During the development of mychild.ie, over 4,000 parents took part in a research and listening exercise. These parents included those at different stages (first time pregnant, second child, mothers, fathers) and from a variety of locations across Ireland and different situations, including parents transitioning from homelessness, asylum seekers, teenage and young parents and parents from the Traveller community.

In response to parents’ feedback, the resources were designed to provide parents with the right health information and support them to make informed choices in relation to their children’s health and their own. Website traffic, to date in 2022, exceeds 4 million hits. Looking to the future, Dr Abigail Collins, National Clinical Lead in Child Health Public Health for the HSE explains: “One of the key objectives of mychild.ie is to increase the availability and accessibility of relevant trusted information for parents. Every child is unique and every family setting is different. While parents know their child best, we hope that research and practitioner experience can be invaluable sources of information when needed.”

Instagram: hse_mychild #hsemychild
Twitter: @HSELive #hsemychild
Facebook: https://www.facebook.com/HSEmychild.ie/

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This autumn marks the start of a significant flu season with an upsurge in both flu and Covid-19 expected to put the health service under enormous pressure.

Tuesday, 11^th October 2022: Experts predict that the Irish health service is set to be put under enormous pressure this winter with an upsurge in both flu and Covid-19. The Irish Patients Association (IPA), alongside Sports Pundit Marty Morrissey and Pharmacist Laura Dowling (also known as @fabulouspharmacist on social media), launch a new campaign to highlight the importance of the children’s flu vaccine this winter. The ‘Flunited’ campaign is encouraging parents and guardians of children aged 2–17 years old to join the team and make a collective effort to give flu the red card. 

They are urging parents to book with their GP or local pharmacy this week as the children’s flu vaccine will be available from next Monday, 17^th October.

In the last 10 years in Ireland alone, almost 5,000 children were admitted to the hospital with complications of the flu.¹ Almost 200 children had treatment in intensive care and 40 died.² While most children who get the flu will have mild symptoms, some can develop complications such as pneumonia or bronchitis and may need to go to the hospital. Children, especially younger children, are more likely than adults to suffer severe flu complications. Vaccination is key when it comes to protecting others such as siblings, parents, grandparents and those vulnerable to infections. 

Speaking at the launch, Morrissey comments: “As someone who is around the country at various games and sporting events, I see the huge benefit sport brings to kids and communities. Everyday life is disrupted when children are sick for long periods, out of creche and school, along with hobbies and sports — this impacts parents in terms of work and routine. We all have a responsibility to do our part to stop the spread of flu and not get left on the bench this winter, so join the Flunited team, and get your child vaccinated against the flu!”

Stephen McMahon, IPA, says: “Over the last years, we have witnessed firsthand what can be accomplished when we all come together with a common purpose. As a result of the groundbreaking Covid-19 vaccine, we were able to protect not only ourselves but the most vulnerable in our society from a serious illness. Our campaign aims to highlight the importance of the flu vaccine for children, to both parents and guardians. Experts are predicting a surge in both Covid-19 and flu this year which will put our health service under enormous pressure. We have a real opportunity to change this narrative and become proactive advocates of our own and each other’s health.” 

Dowling adds: “While most children who get the flu have mild symptoms, there is always a risk of complication, particularly for children and young people with chronic health conditions. The flu vaccine not only helps to protect children but also helps to protect others. Contact your GP or participating pharmacists for more information. Let’s all work together to protect the vulnerable this flu season.”

IPU Head of Professional Services, Clare Fitzell comments: “Pharmacists play an important role in minimising infection rates in our communities. Children are twice as likely as adults to get the flu and are also more likely than adults to get severe complications from the flu. Flu vaccination is quick and easy for children. Because it is administered via a nasal spray, there are no scary needles or pain involved. The influenza virus changes slightly each year, and there is no guarantee that a flu vaccine that your child got in previous years will offer them protection from the strains of the virus that will hit Ireland during this year’s flu season. Therefore, an annual vaccine is essential, and most children need only one dose of the vaccine each year.”

[1] HSE https://www2.hse.ie/conditions/flu/childrens-flu-vaccine/
[2] HSE https://www2.hse.ie/conditions/flu/childrens-flu-vaccine/

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Eddie Murphy

Trading Director, M&S Ireland

Healthy eating and being physically active are particularly important for children. This is because their nutrition and lifestyle influence their wellbeing, growth and development.

Laying down healthy food habits in childhood influences their relationship with food for life. Food provides energy so that they can happily carry out all the activities they enjoy. A huge body of scientific evidence has looked at the impact of breakfast and children’s concentration at school. Childhood is a time to learn a variety of flavours and foods to ensure that main food groups are enjoyed, so variety is key.

Developing a taste for healthy food

Eddie Murphy, Trading Director at Marks & Spencer, Ireland, spoke about the M&S ‘Taste Buds’ food range, saying: “We know how important good food is for everyone. But healthy, nutritious food is particularly important for child development.

We take that very seriously in our role as a retailer for families. That’s why we’ve collaborated with children’s nutrition experts to develop our meal range for children aged 4–10, to ensure that each product provides the key nutritional benefits essential to children’s development. Additionally, 5 cents from every Taste Buds pack sold in Ireland is donated to the Children’s Health Foundation, Crumlin.

“As parents, we’re often so busy that it can be difficult to find the time to provide nutritious food day after day, so the Taste Buds range has been developed as a fuss-free easy dinner range that our customers can trust to be nutritionally balanced and delicious.”

Providing a nutritious diet that children will enjoy is crucial for learning and playing. 

Encouraging a balanced diet

Childhood is an important time for growth and physical and cognitive development. Providing a nutritious diet that children will enjoy is crucial for learning and playing. 

To help parents choose a healthier diet for their children (4–10 years), we’ve focused on a range of children’s food that is both delicious and meets children’s nutrient requirements. Every one of the meals in the range has at least one of your five-a-day and carries our Eat Well health stamp of approval. Our Eat Well flower makes it easier to be healthy — every product has a health benefit and supports a balanced diet.

Parents want to give their children food that is good for them. They want to know what’s in the food they are offering. Therefore, there are no artificial colours, flavours or sweeteners; no added preservatives (excluding deli meats); and there are no salt substitutes and no added salt, wherever possible.

Laura’s top five tips

Whatever age your child is, role modelling has a big impact on eating habits. While many of us are at home, we have a unique chance to sit and eat together for at least one meal a day. Use the opportunity to display the kind of eating behaviours you’d like to see in your child. Whether it’s leaving devices elsewhere while eating or chomping up all our greens, it’s interesting to see how — once we start doing things ourselves — they soon copy.

Get kids involved — if they help prepare meals, they’ll take pride in the food and will be more likely to tuck in.

Try making fruit and veggies the topic of your dinnertime conversation. Discuss which you’ve eaten that day and how you plan to fit in your five-a-day tomorrow.

Most schools talk about the environment and food waste; strike up a conversation to see what knowledge your child has and if they have any creative recipe ideas to use up leftovers.

Get creative! The presentation has a big impact, so make food as appealing and varied as you can — kids will enjoy helping, too.

What is Eat Well?   

The Eat Well health seal of approval makes it easier to be healthy. Every Eat Well product has a health benefit and supports a balanced diet. The Eat Well flower is only given to products meeting evidence-based nutritional criteria — developed by our nutritionists and in line with healthy eating guidelines. So, whether you want to cook a meal from scratch, grab a snack on the go or find something to quench your thirst — just follow the Eat Well flower to make a healthy and delicious choice. 

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When children are in junior infants, they are offered the 4-in-1 and MMR vaccines, and when students are in first year, they are offered HPV, Tdap and MenACWY vaccines.

Each September, the HSE vaccinations teams offer the school vaccination programme in primary and second-level schools across the country to protect junior infants and first years against vaccine-preventable diseases.

Vaccines children should get

The 4-in-1 and MMR vaccines are boosters and diseases your child has already been vaccinated against when they were babies. The 4-in-1 vaccine protects against diphtheria, polio, tetanus and whooping cough (pertussis), and the MMR vaccine protects against measles, mumps and rubella.

We have seen recent media from the UK and New York where polio is being reported. We know polio can cause paralysis. This can be worrying for parents. The best way to prevent cases of polio in Ireland is by getting vaccinated on time. The 4-in-1 vaccine (and the 6-in-1 vaccines given to babies at two, four and six months) are a very effective way of preventing polio.

The HPV vaccine protects against the HPV virus which can cause cancer in both girls and boys. Tdap vaccine protects against:

• Tetanus (tetanus toxin can cause painful muscle spasms and convulsions)
• Diphtheria (bacteria that can cause a sore throat and severe breathing difficulties)
• Pertussis (a bacteria also known as whooping cough and causes severe coughing and vomiting)

The MenACWY vaccine protects against four types of meningococcal disease which can cause meningitis (inflammation of the lining around the brain) and/or septicaemia (blood poisoning).

We know meningococcal disease can affect people suddenly, and it’s always important to be vigilant for signs of meningitis and septicaemia. The other thing you can do is make sure your child gets vaccinated on time to give them the best protection.

We have seen recent media from the UK and New York where polio is being reported.

Tips to prepare your child for their vaccine

On the day of vaccination, we recommend that your child:

Eats breakfast. This will help to prevent them from feeling faint, which can sometimes happen after vaccination.

Wears a loose, short-sleeved top. If your school does not allow short-sleeved tops, consider adding a short-sleeved T-shirt under your child’s shirt so they can take their arm out of their shirt.

Brings their immunisation record card/immunisation passport to school, if they have one.

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The newborn hearing screening program in Ireland has screened 522,327 babies from 2011 to 2020 and has identified a prevalence of hearing loss in Ireland as 1.66 in 1,000 births.

Early identification and intervention of childhood hearing loss improve the long-term outcomes for children.

We know that ‘mild’ hearing loss is not identified by the newborn screen. There is also late-onset hearing loss, acquired hearing loss and temporary hearing loss that occur in childhood. It is suspected that the incidence of childhood hearing loss doubles by the age of nine.

Affecting everyday abilities

Mr Tony O’Connor, ENT Consultant at Crescent ENT & Audiology, Galway, reminds us that “The most common cause of temporary childhood hearing loss is otitis media with effusion (OME, also known as ‘glue ear’).”

“Although typically temporary, mild to moderate hearing impairment related to OME will have occurred in up to 80% of children by the time they are eight years of age. In cases of persistent OME, the insertion of ear grommets — with or without adenoidectomy — provides immediate restoration of normal hearing levels in these children.”

The burden of untreated and unidentified hearing loss can present in a child’s speech and language and communication skills, in their academic ability, behaviour issues and social and emotional wellbeing.

It is suspected that the incidence of childhood hearing loss doubles by the age of nine.

Testing a child’s hearing

Assessing a child’s hearing can be challenging. In addition to our standard audiometry at Hearing Solutions, visual reinforcement audiometry (VRA) allows us to assess hearing in infants and toddlers.

Fortunately, advances in technologies mean we can consider objective hearing tests for children who cannot reliably respond on their own during a behavioural hearing test. Such tests that we perform include otoacoustic emissions (OAE), auditory brainstem response (ABR), auditory steady state responses (ASSR) and cortical evoked potentials audiometry (CERA).

Mild hearing loss

Possible hearing loss should be considered for a child who experiences attention, social or school performance difficulties. One-third of children with even mild hearing loss perform worse at school than children with normal hearing.

For some children, the level of disability may be greater than the severity of the hearing loss. The relevance of slight to mild hearing loss should be acknowledged, particularly in cases of unilateral (one-sided) hearing loss or children with mild, high-frequency hearing loss.

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Children and young people — 18 years and under — comprise one-quarter of Ireland’s population. These young people are a valued and positive asset for Ireland’s future.

Nelson Mandela once said: “There can be no keener revelation of a society’s soul than the way in which it treats its children.” A critical review of Ireland in this regard is varied.

Paediatrics in Ireland

When looking at acute paediatric services in our hospitals, we have many excellent services, while others require continued development, especially when it comes to providing timely access. Reducing the length of time that children are waiting for review and treatment is currently the highest priority for Children’s Health Ireland.

The ambitious transformation of healthcare requires long-term planning and policy change. The health policy and plan for acute paediatrics are based on the 2016 National Model of Care for Paediatric Healthcare Services. It is in keeping with Sláintecare and will be fully in place within the next decade.

Core principles of care

This model of care stipulates having an integrated network of paediatric services based on two core principles.

The first is that children and young people should be treated as close to their homes as clinically appropriate. The second is that all national and highly specialist acute services are consolidated in one children’s hospital co-located with a large academic adult hospital.

The highest concentration of children is in the eastern region where the rollout of the new model of care for acute paediatrics is well-advanced.

The development of acute paediatric services in regional hospitals is an integral part of this model of care.

An integrated network of services across hospitals is already in place for cancer services and is now being rolled out for Ireland’s trauma services. The same approach is required for acute paediatrics across healthcare services, professional education and paediatric research and innovation.

Facilities for children

Children’s Health Ireland currently provides paediatric services in Crumlin, Temple Street, Tallaght and Blanchardstown. The highest concentration of children is in the eastern region where the rollout of the new model of care for acute paediatrics is well-advanced.

New facilities for outpatient and urgent/emergency care in Blanchardstown and Tallaght provide local and convenient services northwest and southwest of Dublin. Our new children’s hospital building is now over 70% complete and will provide all national and some all-island services for our sickest children.

We welcome continued investments in paediatric services, through our new hospital project and in our integrated network of paediatric services. By doing this, all children will benefit equally, and we can continue to protect and nurture our nation’s children and young people.

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Dr Joe Wiley

Founder and CEO, Amryt Pharma

Jimmy Fearon

CEO, Debra Ireland

Epidermolysis Bullosa (EB) is one of about 7,000 rare diseases. EB is a rare and distressing genetic skin disorder affecting young children and adults, and there is no cure.

Children born with EB are often called ‘Butterfly Children’ because their skin seems as fragile as a butterfly wing. In Ireland, there are about 300 patients, of whom about 90 have the two more severe forms of the disease.

Unseen effects

The condition causes the skin to become fragile and tear or blister at the slightest touch. Patients with severe forms of EB suffer from chronic blistering, scarring of the skin, mutilating of the hands and feet, joint contractures, strictures of the oesophagus and mucous membranes and are at high risk of developing infections and aggressive squamous cell carcinomas, which can result in a risk of premature death. 

Patient Care

Children often go through painful bandage changes which can take up to three hours every other day. Jimmy Fearon, the CEO of DEBRA Ireland, the charity that supports children and families in Ireland affected by EB, says: “The impact of EB on a family is devastating. The trauma is both physical and psychological.”

Founder and Chief Executive of Irish biotech firm Amryt Pharma, Dr Joe Wiley says: “EB patients can require opiates to get through bandage changes, so what we want to do is to reduce wound burden as much as possible.”

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Prof Cormac Owens

Consultant Paediatric Oncologist, Children’s Health Ireland, Crumlin

Neuroblastoma represents only 6% of childhood cancers, yet accounts for 15% of cancer deaths in children. Some forms respond to treatment, while others are difficult to treat as they are resistant to anti-cancer drugs.

Current neuroblastoma treatments are often genotoxic, damaging the genome and causing severe side effects that can burden survivors for decades. How can we overcome drug resistance and improve treatments so there are fewer side effects?

Virtual representation

A team of clinicians, computer scientists and biologists at Children’s Health Ireland at Crumlin and UCD’s Systems Biology Ireland are trying a new approach. Funded by initiatives such as Precision Oncology Ireland and the Children’s Health Foundation, they are developing digital twins of neuroblastoma patients.

These are virtual models that allow the disease to be simulated on a computer so that diagnosis and treatment can be optimised on the model first before moving to the real patient. This makes the diagnosis more precise, and treatment can be tailored to individual patients ensuring that each patient gets the optimal treatment for their condition.

We are now expanding these digital twins to predict the response to chemotherapy for individual patients.

Personalised technology

Digital twin models have been successfully used by engineers for decades to design complicated machinery, such as cars and spacecraft. However, the complexity of the human body dwarfs the complexity of even the most sophisticated machines.

Building digital twins of human patients is a long-term endeavour that requires teamwork and cutting-edge technologies such as genome sequencing, gene expression and protein expression profiling.

We first construct molecular portraits of each patient. We then match these portraits with clinical features and encode them as algorithms which allow us to run the computer simulations. The first digital twin model produced by our researchers (Fey et al., 2015) could identify a group of high-risk neuroblastoma patients for whom we did not have reliable markers; and they could do this on a fully personalised basis predicting the exact risk of disease progression for each patient.

Enhancing treatment

We are now expanding these digital twins to predict the response to chemotherapy for individual patients. We are testing these models with cultured cancer cells in the laboratory and hope to make them available to assist doctors with treatment decisions within the next five years. The team is also using digital twins to discover entirely new drugs and drug targets that may replace genotoxic drugs altogether, thereby reducing long-term side effects. As developing a new drug takes around 15 years, this aim lies far in the future. However, the future has already started.

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