Why Integrated Care for Rare Diseases matters

Why Integrated Care for Rare Diseases matters

The last day of February was chosen as The World Rare Disease Day – because it is a rare day in itself, that every four years we get an extra day. 2024 is indeed a Leap Year so we celebrate this World Rare Disease Day with special emphasis and awareness. To celebrate this day, Anne Lawlor chairperson of 22q11 Ireland has written this blog on the care needs of people with 22q11.2 deletion syndrome and how integrated care should be for them and their families.

In 1998 at aged 15 my daughter was diagnosed with 22q11.2 deletion syndrome. Prior to diagnosis her care could be described as chaotic, after diagnosis there was little change to this, and now aged 40, in 2024, her care remains as complex as when she was younger.

Her diagnosis gave me the missing piece of a puzzle but left me with a lot of unanswered questions. It gave me a reason for a myriad of hitherto unexplained symptoms and an answer to her seemingly unending health, cognitive and behavioural issues. The diagnosis also shed new light on the results of a clinical psychology assessment when she was six, the conclusion of which was “mildly mentally retarded, cause unknown”.

To understand the care needs of people affected by rare diseases we need to first understand a few facts about these conditions. Although a disease might be rare, cumulatively they are very common indeed and taken together they number in their thousands.

  • 75% of rare diseases affect children
  • 70% of rare diseases have their onset during childhood
  • 5 years is the time it takes on average for rare disease patients to get a diagnosis
  • 72% are of genetic origin
  • 28% are non-genetic
  • In the absence of new-born screening for the majority of rare diseases the ‘diagnostic odyssey’ remains a reality for many
  • Over 300 million persons live with a rare disease worldwide

Some rare diseases are ‘ultra’ rare, some ‘rare’, and some, like 22q11DS are what I have come to describe as ‘common’ rare. 22q11.2 deletion syndrome has a prevalence rate of 1 in every 2-4,000 live births and after Down Syndrome is the most common chromosomal condition known. Although clinically variable, the trajectory of 22qDS generally means that early childhood years are characterised by medical issues whilst later childhood years are often focused on social communication difficulties and learning differences. In adulthood there is a shift to navigating further education possibilities, work opportunities and support with daily living functions. This is a similar profile for other genetic copy number variants (CNV’s)

Approximately 1,000 genetic disorders are associated with learning disabilities. There are many chromosomal syndromes that can affect children, some like Down Syndrome are more familiar to us and some like 22qDS are more invisible.

Children with 22q often have difficulty with processing information, problem-solving, understanding complex instructions and picking up on social cues. They also tend to be concrete literal thinkers, anxious in social situations and younger in mentality in contrast to their age and these different ways of thinking and being can persist into adulthood.

Clinically 22q11DS is highly variable, each person is affected differently and will require tailored management and treatment to meet their individual needs.

In a nutshell, care needs go above and beyond medical needs and supports are required across the lifespan. A cradle-to-grave approach is needed. Health, social-care and educational systems need to be aligned to respond effectively to these complex needs and to keep a holistic person-centred multidisciplinary perspective.

Currently and as highlighted by Genetic Alliance UK, “poor coordination of care is a problem faced by many people affected by rare diseases and it is an important and common concern among patients and families. Poorly coordinated care means:

  • Some people have access to specialist centres, some to not.
  • Many patients do not have a care coordinator or advisor.
  • Patient information may not be shared effectively between services meaning there may be gaps in care.
  • Patients and families frequently have to attend multiple clinics and travel significant distances to them.

Individually rare diseases are rare, collectively however they are common with new conditions being added each week. To fully understand the care needs of people affected by a rare disease, healthcare systems and services everywhere could address the issues outlined in the UK report to align, coordinate, integrate and respond effectively to the issues that are common to all rare disease families.

Here in Ireland a 22q paediatric clinic was established in 2017. Subsequently we secured a care-coordinator to promote what we see as a transferable model of integrated care and we continue to work with our clinical team to address gaps. Transition to adult care is of great concern to all families of children with rare conditions and a particular focus for us.

An estimated 1 in 17 people will have a rare disease during their lifetime. Those affected live with their families and in all our communities worldwide. They have the lived experience and patient expertise when it comes to knowledge of their conditions and as such should always be an integral part of the design and delivery of care pathways.

Anne Lawlor

22q11 Ireland

22q11 Ireland is a voluntary organisation dedicated to improving the lives of those living with 22q11 Deletion Syndrome in Ireland. The vision is to improve the current medical, educational and social approaches to care, so that people living with 22q11 are treated in an integrated way that enables them to overcome obstacles more easily.