Rare Disease Day is held on the last day in February each year Image Credit: Shutterstock

Before I got involved with the UAE Rare Disease Society, like most of us, I had limited understanding of rare diseases and their impact on people’s lives. A disease is defined as rare if it affects fewer than one in 200,000 people.

So, you may think that a disease which could affect just one in a million of us, or even one in ten million, should not be a top priority for the scientific and medical community. But the fact is, more than 6,000 rare diseases have been identified, and likely thousands more are still to be discovered.

And when these rare diseases are looked at collectively rather than individually, they have a significant impact on our communities, with an estimated 7.8 million people in the Middle East living with a rare disease today. And what’s more, three in four of those people are children.

Around 80 per cent of rare diseases in the UAE are genetic — they are written in our DNA, which is why many typically start in childhood. However, they can also be caused by infections, allergies or environmental causes. And because they are rare, and because the symptoms may also be associated with other more common conditions, diagnosing a rare disease is often complex and time consuming.

Significant stress and anxiety

In fact, patients wait an average of six years from the onset of their first symptoms to being accurately diagnosed. And during this time, not only do patients’ conditions which may be treatable or manageable worsen, but parents and caregivers are also subject to significant stress and anxiety as they struggle to find out what is wrong with their child.

So far, it seems I’ve painted a negative picture. But what I haven’t shared is my experience of spending time listening to and learning from patients with rare diseases, and their parents, families and caregivers.

I have been uplifted by their stories and determination, and they have challenged me to help raise awareness of rare diseases and improve the lives of thousands of children, young people and adults in the UAE. Not only have I been inspired by their resilience and positivity, but also by how much of what is needed to change lives for the better is not only possible, but imminently achievable.

In the few short months since becoming chair of the UAE Rare Disease Society, I have seen what a difference we can make when families, government, medical professionals and the private sector work together. And what’s even more exciting, I believe there is an opportunity for the UAE to become a global leader in rare diseases by championing the needs of patients and families.

UAE’s regional leadership

This is thanks to the firm foundations laid by our leadership and their continued investment in the health and well-being of citizens and residents, in our medical and educational institutions, and in our scientific and technological industries. The UAE’s regional leadership in recognising the abilities and needs of people of determination across our communities — including those with rare diseases — is also of critical importance.

Building on these foundations, I believe we need to focus on three key areas to become a global leader in rare diseases.

First, we must encourage more research. We can do this by working with partners in the pharmaceutical industry, where breakthroughs in rare diseases often have far reaching positive impacts on other, more common, conditions.

Our universities and medical institutions can lead the way in understanding the causes, avoidance, treatment and cures of rare diseases. And we can capitalise on the success of local and federal programmes like the UAE Genome Project, where we have established a global lead in using large scale genomic data to enhance national health and well-being.

Second, we can raise levels of access to treatment and care, building on the UAE’s investment in health care. We can further patient access to clinical trials and preclinical trials, and work with medical professionals to raise awareness of rare diseases to increase early diagnosis and avoid misdiagnosis.

Listening to concerns

Here, I cannot stress enough how important it is for the medical profession to listen to the concerns of parents, especially mothers, about their children’s illnesses and symptoms.

Third, and most importantly, we must listen to and learn from patients, families and caregivers to understand what support they need, and how we can best provide it. From my conversations so far, there is a clear need to educate our communities and reduce the levels of stigma and bullying that negatively impact the lives of so many.

We also need to advocate on behalf of our families to secure medical treatment and educational support. Here I must recognise the great work being done not only by members of the UAE Rare Disease Society in supporting our families and patients, but also other organisations including Al Jalila Foundation, High Hopes and UAE University who each make invaluable contributions.

If we follow these three simple steps, I believe the world will look to the UAE as a nation that champions the needs of those with rare diseases by investing in medical research, diagnosis and treatment, and by providing the best possible support and care for patients and their families.

Our Society and our members have ambitious plans for the future too, as we prepare for the biggest date on our annual calendar, Rare Disease Day, held on the last day in February each year. We will do all we can to capture the opportunity this day presents to share our stories, and raise awareness with our local communities, and with the world.

Marwan Abdulaziz Janahi is the Chair of the UAE Rare Disease Society