Rare diseases are complex and only 5% of 7,000 rare diseases have treatment approved by FDA. Affecting 350 million people worldwide, it is estimated that 50% of rare diseases begin in childhood . Those affected by rare diseases do not receive a lot of attention. So how then can we help them effectively? We don’t have the answer yet but the newly formed ASEAN+ Rare Disease Network seems to show a lot of potential.
This Network comprises of rare disease patient support groups from several countries across Southeast Asia as well as Hong Kong to empower the lives of rare disease patients, their families and caregivers. These groups are: Yayasan MPS dan Penyakit Langka Indonesia, Department of Genetics at Hospital Kuala Lumpur and We CARE Journey (Malaysia), Philippines Society for Orphan Disorders, Muscular Dystrophy Association Singapore, Rare Disorders Society Singapore (RDSS), Rainbow Across Borders (RAB), Hong Kong Alliance for Rare Disorders, Hong Kong Mucopolysaccharidoses & Rare Genetic Diseases Mutual Aid Group, and Vietnam Women’s Union.
Apart from patient support groups, the ASEAN+ Rare Disease Network also work together with community partners including Shire, a leading global biotechnology company focused on serving people with rare diseases and other highly specialized conditions.
The Network will undertake programs to understand the impact of rare diseases in the region as well as to plan and coordinate annual rare disease programs for both patients and caregivers. At the kick-off meeting on 22nd March 2017, representatives conveyed their country initiatives planned in conjunction with Rare Disease Day, which falls on 28 February each year. RAB also shared the initial findings of the very first Singapore Rare Disease Impact Study. The aim of this study was to allow the voices of this small, but often neglected group of people to be heard, and to better understand their needs. The Network will work together to roll out the Rare Disease Impact Study across the region.
The pilot phase of the study was conducted in Singapore between July to December 2016, and surveyed 152 patients and caregivers across a wide range of rare diseases. At the meeting, Rajakanth R. (Raj), Executive Director of RAB, shared the Singapore Rare Disease Impact Study and the stories of six young rare disease patients and their family. One story was about Jasmine Lee’s daughter, Sarah, who was born with a number of medical conditions that remain undiagnosed till today. Raj said that diagnosis has always been a huge issue for rare disease patients. From those surveyed, 60.7% patients faced problems getting diagnosed and it is saddening to know that some patients remain undiagnosed.
Out of the 7,000 identified rare diseases and disorders, 80% of rare diseases are genetic in origin . Why is it hard to get diagnosed with rare diseases or disorders? In the first place, it is difficult to find the relevant specialist, and sometimes, doctors do not know about the illness and it leads to erroneous diagnosis. The test results are often inconclusive because patients are made to undergo the wrong tests. Patients suspected to be afflicted with rare diseases are advised by doctors to go through multiple tests and make several trips to the hospital in the hope of reaching more precise results. In the process of diagnosis, the waiting period may trigger unwanted worries and anxieties.
“The main issue is when we (parents) pass on, who will take care of my child? How can you help my child?” Kenneth Mah said. He is father to a child with Pompe disease. He founded RDSS, where he is currently serving as Executive Director. He is actively involved in public education about rare diseases and dedicates his time in supporting other families with children living with rare disorders. Having a child with the first documented Pompe disease case in Singapore, Kenneth shares his experience in caring for his daughter Chloe. “One of the challenges is that although doctors are aware of the symptoms and conditions, they are unable to advise parents on how to manage their children with rare diseases at home.
Rare diseases are more common than we think. The ASEAN+ Rare Disease Network seeks to bring together the many different stakeholders in rare disease management to catalyze strategic solutions for the care and support of rare disease patients, and to mobilize community involvement and humanitarian solutions.
Early intervention is critical to save the patient’s life, to create a chance for a better quality of life. The speed and accuracy of diagnosis affect both the patients and caregivers. Raj and Kenneth said although some patients with rare disease such as Gaucher disease are able to lead normal lives until their symptoms become known, after which they can be treated, others are not as fortunate. By the time their symptoms surface, they are no longer reversible, and the window to seek treatment is missed. For example, Pompe disease has to be treated within the first three months of being diagnosed in a newborn. If left untreated, children with Pompe usually have a short lifespan. Therefore, treatment should come as early as possible once the patient receives a diagnosis.
The Impact Study also found that 78.6% of the patients or caregivers in Singapore find that the financial cost of managing or caring for someone with a rare disease is a substantial burden to their family and themselves. Many families have to reuse some of their consumables to cut down their daily expenses. 82.1% said their families are not offered financial support by the hospitals after being diagnosed with the illness. This might be due to the fact that the treatment is too costly. Sometimes, medical social workers don’t offer financial support options for outpatients, which is most often the case for rare disease conditions.
On the other hand, among those who are receiving financial support, 64.3% said the support is insufficient to cope with treatment and other aspects of disease management. In many cases, either one of the parents might have to give up his or her career and be a full-time caregiver to look after their affected child. The inadequacy of income makes life more difficult for the family. Apart from the financial burden, the family, especially the caregivers are often emotionally distressed. The study showed 71.3% of patients or caregivers often feel stressed, anxious or frustrated about the illness. Here, the support group plays an important role to provide emotional support. Many of the patients and their parents (92.9%) feel that being in a support group helps a lot – they somehow feel better when someone else can relate to how they are feeling and what they are going through. 85.7% of them think that counselling service helps in providing support emotionally.
The study also found that there is a gap in the system in that the family might not be informed properly about who or where they should go, or what they should to do upon learning about the diagnosis. Only 32.1% of those surveyed have been referred to a patient support group when diagnosed with a rare disease. Raj feels that the patient support groups need to be more proactive in increasing their visibility and making patients aware that such support groups exist, and are available to offer the necessary support.
In all circumstances, family and friends play an important role in providing the psycho-social support for rare disease patients to lead a comfortable life. The patient support organisations are around but more effort should be made to motivate the patients, and serve their needs.
Apart from the financial and emotional burden that comes with living with a rare disease, the lack of public awareness has also been deemed a challenge for these families. Other challenges include facing day-to-day activities, for instance, getting around in public transportation, or having access to destinations for immobile patients.
From the study, patients and caregivers expressed that they would like to have access to timely and accurate information about rare diseases. Ultimately, they hope to see policy changes that will leave a positive impact, including having access to a database of rare conditions, which will not only help to speed up diagnosis, but aid doctors in receiving up-to-date, evidence-based information to better understand these diseases and improve patient outcomes.
“Have we done enough? Are we equipped with enough knowledge to help understand some of them?” Raj said these are some questions that still need be addressed, provided more help is given to the rare disease community. “We have to clear the misconception that they are disabled. No, they are not. Disability due to the disease is a medical challenge. It is the medical challenge that leads to the disabilities. Right now, we need to try to raise awareness of this,” he said.
“Firstly, we need to understand the burden of the disease. Secondly, to improve the quality of life for rare disease patients. Lastly, we need to understand their disability as well,” he added. On the community level, patient support groups play a great role in stepping forward to come up with solutions to raise awareness, to rally more support and better understand the diseases, and connect people to people.
Last but not the least, majority of the patients and caregivers (96.5%) would like to have integrated care - more coordination and communication between patients, physicians, patient support groups and government agencies. They hope to have coordination in psycho-social support, respite care and medical care.
1. Global Genes. https://globalgenes.org/rare-diseases-facts-statistics/
Written by APBN editors, Carmen J.W. Loh and Catherine D. Ong.