Dubai: Understanding and dealing with rare diseases, esepcially genetic conditions, remains a huge challenge, even as it necessitates constant research and novel ways of treatment, a top health care expert has underlined.
In an exclusive interview with Gulf News, Dr Maryam Mohammad Al Matar, founder and chairperson of the UAE Genetic Diseases Association, answered a range of questions of rare diseases and how to identify them:
What is a rare disease?
A rare disease is a health condition that affects a small number of people compared with other prevalent diseases in the general population. To date, 8,000 distinct rare diseases have been documented, of which 80 per cent have a genetic component. Approximately 75 per cent of the population affected by rare diseases are children, 30 per cent of whom die before the age of five.
With a combined population of less than 400 million, the Centre of Arab Genomic Studies (CAGS) estimates that about 2.8 million patients are suffering from a rare disease in the Middle East. The region has one of the highest prevalence rates in the world for rare diseases, especially genetic diseases. This is related to the higher rates of consanguineous marriages and advanced maternal and paternal age.
What is the trigger?
Across Middle East and North Africa (Mena) region, common factors like large family size, high maternal and paternal age and high consanguinity rates (marriage between close relatives) in the range of 25-60 per cent are strong contributors for higher levels of congenital and genetic disorders. This high prevalence of common genetic disorders (over 900 have been catalogued) has led to a plethora of rare diseases, many with orphan status, including Gaucher’s disease, Fabry disease, Behcet’s disease, thalassaemia and sickle cell anaemia.
What causes rare diseases?
There are many different causes of rare diseases. The majority have genetic origins, directly caused by changes in genes or chromosomes. In some cases, genetic changes that cause disease are passed on from one generation to the next. In other cases, they occur randomly in a person who is the first in a family to be diagnosed with the condition.
All rare diseases are not inherited or of genetic origin, right?
Many rare diseases, including infections, some rare cancers and some autoimmune diseases are not inherited. While researchers are learning more each year, the exact cause of many rare diseases is still unknown.
In 2017, a study was conducted by CAGS and Latifa Hospital on 20 patients from the UAE, Jordan, Sudan and Yemen. Dr Fatima Bastaki, consultant paediatrician and clinical geneticist at Latifa Hospital was the lead researcher. The results were published in medical journals. The study revealed links between ‘12 hereditary rare diseases among Arab children and 16 new genetic mutations in 14 genes’. The study revealed many findings on the Rapson-Mendenhall Syndrome — a severe insulin resistance that can result in death as well as developmental complications. Another gene discovered was one that leads to Beckwith-Weidmann Syndrome, a disorder with asymmetrical overgrowth of the organs and increased risk of cancer.
How is the incidence or prevalence of rare diseases documented?
Unfortunately, we have only sporadic statistics. Being Emirati and being in charge of the UAE Genetic Diseases Association, which is one of the NGOs in the UAE, this is one of our main missions: to advocate the establishment of the national registry. What makes me very optimistic is that things are going very well, and we are receiving great support from the decision makers, colleagues in paediatrics and other specialities in medicine. We all work collectively together to make sure that this can be implemented as soon as possible.
How can neonatal screening programme help in mitigating the rise of rare diseases?
The neonatal screening programme in UAE is being updated on a regular basis. As soon as we identify new mutations that put the patient at an increased risk of developing a rare disease, updates are made. Focusing on the neonatal screening helps tremendously because once we are able to identify him/her early enough, it gives us the chance to improve his/her quality of life and in some of the cases, we can manage and treat the patient through a specific, very affordable intervention — either hormonal therapy or other specific/available medication.
How can health insurance help meet the cost of treatment of such diseases that require lifelong care and intervention?
Many rare diseases cost a lot to manage the condition (not to treat). Here it is very important to bring into the picture the role of insurance companies. They have to be brought in the picture early enough to make sure that the safety net is very strong and rare disease patients are included within the safety net to be able to make intervention services available to them — whether it is through medication, physiotherapy or nutritional therapy.
The government here in the UAE is doing very well to provide support. But as members of the health-care community, we need to better support all the legislations that the government is taking to help us.
– Dr Maryam Mohammad Al Matar, founder and chairperson, UAE Genetic Diseases Association
What steps are being taken to create awareness on genetic diseases among the UAE population? How can patients feel more empowered?
The government here in the UAE is doing very well to provide support. But as members of the health-care community, we need to better support all the legislations that the government is taking to help us. If I need to highlight the gaps that exist here in the country, I would say that they stem from the several members of the community itself, including patients. Simply because they are still not cooperative when it comes to research or clinical trials.
Health care professionals such as paediatricians and clinicians have to put in more effort — every patient who cannot be diagnosed properly has to be put in a situation where the whole level of screening and investigation is upgraded. This will help a lot.
How can patients and their families help in creating awareness?
Patients themselves, adults in particular, still don’t take the initiative to go and look for more information about their condition. They need to push to understand their condition and indirectly force the physician to educate themselves about specific details and symptoms related to rare diseases.
Pharmaceutical companies are now doing a much better job in raising awareness about rare diseases. However, they focus too much on physicians. Nurses for example, should be more involved. Nurses are the first medical staff who see and spend a considerable amount of time with patients, so these people should be more involved.
Colleges and universities also play a crucial role in raising awareness. They are the future — if they are approached and get involved at a young age, and are empowered with the right knowledge, they will be our messengers in the community. For example, in their graduation programmes — instead of focusing on other topics, they can focus on rare diseases to expedite things in the right direction. This itself will raise the bar in creating better disease awareness in the community and will improve early detection even before the child is born.
NGOs are strong, well-established, legally authorised entities in the UAE to raise awareness so they also play a major role here. We provide consultations for people free of charge for those who earn salaries below Dh4,000. The impact of these volunteering services when they happen on a platform that are recognised, organised is massive. Again, NGOs play a big role in raising awareness and providing services to the community.
What are the unique challenges faced in the diagnosis of rare diseases in the UAE?
Lack of screening/identification tools for physicians is one challenge. Intervention services related to rare disease are expensive. Moreover, with an expat population of around 80 per cent, some people believe that it is not always worth going through a lengthy investigation process since this patient might be in the country for a limited number of years — this mentality has to change.
How can telemedicine support rare disease patients?
Telemedicine is the magic stick in improving the quality of care for rare disease patients — from early diagnosis to proper management. We still do not have a recognised, well-defined task force for rare disease. Globally, centres solely dedicated to rare diseases are rare because such services cost a huge amount of money and need a very strong and sustainable infrastructure. Therefore, if we have these three or four global centre that provide these services — telemedicine would be a magic stick to break all the existing barriers, including affordability and availably of services in a specific country.
Many of these diseases such as some blood disorders can be averted with premarital genetic screening. Are people aware of this and are they going in for this screening? If there are any case studies of people who were able to avert a tragedy by going in for genetic screening, it will hold out as a great motivator to the others.
Premarital genetic screening is very important. For example, in the UAE, Hamad, an eight-year-old child was diagnosed with sickle cell anaemia, an inherited blood disorder, that left him crippled with fatigue and he faced a struggle to live a normal life. His younger brother Abdullah, whose stem cells helped this child, offered him hope.
In early 2017, his parents decided to extract cord blood stem cells from Abdullah to try and save his older brother’s life. Cells were stored at CryoSave Arabia, a facility in the UAE registered with the American Association of Blood Banks. A transplant eventually took place on June 23, 2017. Today Hamad is completely cured and living a happy disease-free life.
What kind of funds have been allocated for research, treatment and management of genetic diseases in the UAE?
When we talk about rare diseases — the UAE is a young nation with 62 per cent of the population being below 30 so we still prioritise research based on international recommendations. To date, 80 per cent of the funds for rare disease research in the UAE come from the government.
Funding is important but if you have the funds but lack the proper infrastructure, that leads to a complete chain of the disorder management. Here I need to give all the credit to the founders of the UAE, especially to those who created an amazing base and structure for research. 30 years ago, they did a great job and set a great base. Today in the UAE, we have three globally recognised research centres. We are involved in manufacturing vaccines, not just research.
I can proudly say it took 30 years of planning, fast execution and very strong infrastructure when it comes to academia, task force, legislation and research, management and involving pharmaceutical companies. This saved a huge amount of time that is more precious than money itself.
For instance, Duchene muscular dystrophy. It took centres in the US and France more than 35 years to come up with the product that is now available to improve the life of our children. We in UAE, thanks to the great infrastructure in place, we are saving huge amounts of time. Through global collaborations and research opportunities, we were able to provide stem cell therapies and manufacture the vaccine with a plan that only took us 2-3 years — which is less than the time it took to build Burj Khalifa. What makes the whole research platform in the UAE unique is that we do not do it alone. We make sure we involve experts from all around the world. Through the right partnerships, we continue where international organisations stopped and collaborate with them.
What is the status on stem cell research or any other kind of breakthrough treatment that can help address many of these genetic diseases? What is the budget allocated for R&D for this field?
People say stem cell therapies are the future — but stem cell is the present. We are spending a big amount of money and time to protect the provider and receiver in the UAE when it comes to making stem cell interventions available in the UAE to set expectations and make it work.
Today in the UAE, stem cell interventions are used case by case — they are used as a supportive therapy for existing disorders, such as premature ovarian failure, joint disorders and much more.
What is the goal of the UAE Genetic Diseases Association?
Our top goal is to empower the high-risk group with the right knowledge and improve accessibility, with a focus on affordable diagnostic and management services in the UAE itself — for all the people not only citizens.
What can you tell us on UAE’s leadership position in fast-tracking registration and access?
The government is doing a great job when it comes to coming up with new legislations, upgrading new screening programmes with new disorders as soon as they are discovered/approved and creating the necessary infrastructure to facilitate and improve the lives of rare disease patients. Partnerships and a robust infrastructure are also key.