MyPOPI leads the way to awareness of rare genetic diseases

MIMS Doctor spoke to Dr Amir Hamzah, consultant paediatrician and medical advisor of Malaysian Patient Organisation for Primary Immunodeficiencies (MyPOPI), to learn more about the organization and its efforts to champion primary immunodeficiencies (PIDs).

PIDs are a group of genetic disorders that impair the immune system. Given that the immune system is responsible for helping the body fight off infections, people with PIDs are more prone to severe infections and other health problems.

Previously, PIDs were generally recognized as a type of rare disorder, but that has since changed. The number of cases in Malaysia continues to go underreported, due to a lack of awareness among the medical community and the public. In reality, many Malaysians are profoundly affected by this group of diseases.

To address this lack of awareness, the Malaysian Patient Organisation for Primary Immunodeficiencies (MyPOPI) was established as a support group to represent those affected by PIDs in Malaysia.

Situation of PIDs In Malaysia

Q: What are the more common types of PIDs affecting Malaysians?

A: PIDs are a large and growing group of different disorders that occur when components of the immune system do not work properly.

According to the 2019 classification from the IUIS (International Union of Immunological Societies), there are now at least 400 different types of PIDs. Even then, every year sees new PIDs being discovered and added to the list.

 

Q: How many Malaysians have PIDs?

A: Data articles on the incidence and prevalence of PIDs in Malaysia are scarce.

However, a recent publication from Universiti Sains Malaysia (USM) revealed that there are more cases of severe combined immunodeficiency (SCID) being diagnosed in the recent years. This could be due to more awareness of the disease amongst paediatricians. Amir believes the top two most common types of PIDs in Malaysia would be SCID and X-linked agammaglobulinaemia (XLA).

Other more common types of PIDs include chronic granulomatous disease, hyper-IgM syndrome and Wiskott-Aldrich Syndrome.

Common PIDs at a Glance
Severe combined immunodeficiency	Caused by genetic mutations that affect the function and development of major immune cells, the lymphocytes. Usually fatal within first few months of life unless treatment is given.
X-linked agammaglobulinaemia	Caused by genetic mutations that reduce one’s ability to produce antibodies to fight infections. Affects males, leaving them susceptible to infections of the inner ear, sinuses, respiratory tract, bloodstream, and internal organs.
Chronic granulomatous disease	Affects the ability of a type of white blood cell to protect against bacterial and fungal infections.
Hyper-IgM syndrome	Affects mostly males. Causes decreased levels of immunoglobulin G (IgG) in the blood and normal or elevated levels of immunoglobulin M (IgM)—leaving patients vulnerable to recurrent and severe infections and, in some cases, increasing their risk of cancer.
Wiskott-Aldrich Syndrome	Typically presented with eczema, thrombocytopaenia (low platelet count) and immune deficiency.This leaves them susceptible to bruising and bleeding, immune and inflammatory disorders, and an increased risk for some cancers as well as eczema.

 

Q: As a paediatrician, you and your colleagues have a vested interest in treating PIDs because these diseases impact children significantly. Can you tell us more about this?

A: More severe cases such as SCID, need to be treated early—ideally during the first 3 months of life. If these patients don’t get a stem cell transplant, many of them don’t survive past their first birthday.

Children with less severe PIDs, such as those with primary antibody deficiency, for example, can grow and develop normally. However, they experience recurrent infections which may cause them to be less active compared to other children their age. Therefore, their growth and development can be affected.

 

Q: Could you share with us how the Malaysian Patient Organisation for Primary Immunodeficiencies or MyPOPI came to be?

A: In 2013, the first ever Malaysian PID patients’ workshop was held during the 6^th National Clinical Immunology Symposium (NACLIS) International Conference in Kuala Lumpur. It was done in collaboration with the Malaysian Society of Allergy and Immunology (MSAI) and the International Patient Organisation for Primary Immunodeficiencies (IPOPI).

The following year, the MyPOPI interim committee was formed and it became an associate member of IPOPI. Soon after, MyPOPI was registered officially as a nongovernmental organization, for the purpose of promoting education and support for patients, and families of patients with PIDs.

Q: How does MyPOPI assist Malaysians with PIDs as well as their families?

A: Prior to the establishment of MyPOPI, patients with PIDs in Malaysia lacked a portal or platform to come together, share their experiences, and provide education to others who are newly diagnosed.

MyPOPI was founded to be that platform. Recently, the organization expanded its mission to also increase awareness of PIDs in our country. We want to highlight pertinent issues such as the need for more clinical immunologists, better diagnostics, and timely treatments for patients with PIDs.

Q: As a member of the MyPOPI medical advisory panel, what are the motivations for your involvement in this organization?

A: When I was about 18 months old, I was afflicted with kidney disease, specifically nephrotic syndrome. Having a kidney disease from childhood motivated me to study medicine and eventually specialize in paediatrics.

At first, I wanted to specialize in paediatric nephrology. But as I was doing my Masters, my research involved looking into the immunology of nephrotic syndrome. It was thought that nephrotic syndrome was an immune-mediated disease, so that’s how I got into immunology.

From thereon, as a paediatric immunologist, it was only natural to be part of MyPOPI, and to champion their plights.

Q: What is your role in helping MyPOPI achieve their objectives?

A: I help with anything that needs review, particularly on advocacy issues, to ensure that the medical and technical terms in the educational materials of MyPOPI are parallel to the fundamentals of basic and clinical immunology.

I also contribute ideas when it comes to organizing fundraising activities, especially those in collaboration with pharmaceutical companies.

Q: What are some of the events and activities organized by MyPOPI?

A: MyPOPI regularly organizes family days, roadshows, and walkathons. These are often done in collaboration with other organizations such as the Asian Medical Students’ Association (AMSA).

Additionally, MyPOPI takes part in the World Primary Immunodeficiency Week, which falls on 22^–29 April every year. It is an awareness week initiated by international societies like IPOPI, in collaboration with other regional PID societies around the world.

During that week, MyPOPI organizes programmes and events together with MSAI and other related bodies including the MOH and local universities. MyPOPI had the honour of being voted one of the most active societies within IPOPI at one point. On top of all these activities, members of MyPOPI have also appeared on mass media (radio, television, etc) to promote and increase awareness on PIDs to the public.

 

Q: What are some of the challenges encountered by MyPOPI and patients with PIDs in Malaysia?

A: To address the major issues of PIDs in Malaysia, MyPOPI and MSAI jointly worked on an advocacy white paper, detailing the hidden health threats and expert recommendations for better management of PIDs in our country.

In 2018, this advocacy white paper was officially handed over to the Health Minister via the Secretary-General and Director-General of Health. In the paper, it was highlighted that there should be newborn screenings for SCID.

The second issue that needs to be addressed is the low number of clinical immunologists in the country. This can potentially cause delayed diagnosis of PIDs, which in turn, can lead to devastating consequences for patients.

Also, clinical immunology is currently not recognized by the National Specialist Register. Hence, all clinical immunologists are working in private practices or in universities. To address this issue, we are pushing to get trained clinical immunologists into government hospitals.

The third issue is that, ideally, patients with primary antibody deficiency (eg, XLA) need to get immunoglobulin replacement treatment every 3 to 4 weeks. Due to the high costs involved, however, on several instances, they only receive treatment every 6 to 8 weeks.

MyPOPI is currently working closely with various stakeholders to overcome these issues.