Mysterious & untreatable: life with sarcoidosis

As an active person, you perform everyday activities with your full energy. You don't get tired. You travel to places daily. You are able to follow tight work deadlines and work for long hours. Even on the weekends. You keep an unpredictable, hectic and demanding work schedule as a routine.

But imagine that one day you suddenly start feeling dizzy. Your muscles begin to lose strength. You get tired. Along with feeling fatigue, you develop shortness of breath, cough, skin rash and swollen lymph nodes. But you have no clue what is causing all this. Even your doctors offer you non-medical reasons. Your family stops listening to your health problems, dismissing you by saying you are making excuses to not work.

How would you feel? Helpless? This is how Husna Ali, a journalist, suffered and still is suffering from a rare disease called ‘Sarcoidosis’.

A chronic autoimmune disease, sarcoidosis can affect multiple organs in the body, including the lungs, lymph nodes and skin. It is characterised by the formation of small inflammatory clusters, called ‘granulomas’, in various tissues. The exact cause of sarcoidosis is unknown, and there is currently no cure for the disease. It is considered a rare disease in Pakistan, and there is limited information available about its prevalence and incidence. However, a few studies have been conducted in Pakistan, which suggest that the country is vulnerable to sarcoidosis.

The lack of awareness and knowledge about sarcoidosis among the public and even the medical profession makes it difficult for a sarcoidosis patient to reach an accurate diagnosis and suitable treatment. This results in delayed diagnosis which leads to multiple secondary diseases.

Sarcoidosis is believed to be an immune-mediated disease, meaning that it is caused by an abnormal response of the body’s immune system. When the immune system encounters a foreign substance, such as a virus or bacteria, it produces immune cells called T-lymphocytes and macrophages to fight the invader. In sarcoidosis, these immune cells cluster together to form small lumps of cells — granulomas — in various body organs. These granulomas can then cause inflammation and damage to the affected organs.

Unknown disease for doctors

Husna Ali, the 40-year-old journalist, has been suffering from sarcoidosis since 2011. The busy life of a journalist doesn’t allow time to focus on one’s health. So it was with Husna.

It was a typical day for her when she started feeling dizzy. She had a fever, flu and sore throat, but assuming it was viral, she took medicines and got well. But this didn't last long. Soon the frequency of this condition increased and her heart rate became erratic.

When she was unable to cope, Husna turned to doctors who took all the heart-related tests, but everything appeared to be fine. The doctor suggested that she was suffering from anxiety. She had a constant temperature of 99 centigrade. They did all the tests except for sarcoidosis. It is not because they couldn't diagnose it but because they were unaware of the disease. They didn't know sarcoidosis even exists.

There are several types of sarcoidosis disease; the most common is pulmonary sarcoidosis which affects the lungs. Other types include: lymphatic sarcoidosis, which affects the lymph nodes and can cause swollen lymph nodes in the neck, armpits or the groin; cutaneous sarcoidosis affects the skin and can cause rashes, bumps or sores; ocular sarcoidosis affects the eyes and can cause redness, pain, blurred vision and even blindness; neurological sarcoidosis affects the nervous system and can cause symptoms such as headaches, seizures, and difficulty with coordination; musculoskeletal sarcoidosis affects the bones and muscles and can cause joint pain, muscle weakness and stiffness. Finally, cardiac sarcoidosis affects the heart and can cause heart palpitations, chest pain and shortness of breath.

Husna had musculoskeletal sarcoidosis. Doctors were diagnosing her with fat loss, disc compression, and other diseases whereas in fact she had muscle drain. She struggled to learn about her condition over two years. In 2013, when protein was detected in her urine sample, the doctors performed an autoimmune test, but the disease was still not visible.

Other than being unaware of sarcoidosis, the doctors Husna consulted with were unprofessional too. Instead of treating her disease, the doctors held Husna’s personal matters as the cause of her condition.

Their words not only made her condition worse but also her life. Husna tells Tribune, “I went to the doctor with my family, and instead of giving any medical reason, he said that you are not married which is why you are in depression. He deemed me to be ‘parhay likhon wali bemar’ [having the illness of educated people]. He also said I don't eat right, don't sleep right, and should pray more.”

Upon hearing this, Husna’s family was convinced she suffered no illness but just the effect of her work and personal life.

Secondary Diseases

Depending on which organs are affected by the sarcoid granulomas, specific secondary disorders or complications may occur. In some cases, sarcoid granulomas can cause chronic inflammation and damage the affected organs, leading to secondary diseases or complications. The secondary condition can affect the lungs, heart, eyes, kidneys, larynx or the nervous system, causing headaches, seizures and difficulty with coordination.

Husna struggled with all these symptoms. The doctors mixed the secondary disease with her primary disease. In 2014, water filled Husna’s heart. She went to the government-owned National Institute of Cardiovascular Diseases (NICVD) where the doctor diagnosed her with lupus, which has symptoms similar to sarcoidosis. But they were unaware that this was a secondary disease. They prescribed her steroids. She felt better as long as she was taking steroids, but as soon as stopped them, her condition relapsed. This time it was even worse following the damage that steroids had done.

This disease can be cured by rheumatologists who treat conditions that affect the muscles, bones, joints, ligaments, and tendons. But in Husna’s case, even rheumatologists could not treat her, and she had to resort to self-physiotherapy.

Discovering the orphan disease

Sarcoidosis is considered an "orphan disease". The term "orphan disease" describes conditions that affect a small percentage of the population and are often not well-known or understood by the general public. Research on the disease is underfunded and there are limited options for treatment.

Chronic autoimmune diseases can significantly impact a person’s quality of life and can be challenging to manage. Unfortunately, some people tend to not take these conditions seriously because they are not visible on the surface. However, it is essential to understand that these diseases are real and can affect a person’s physical and emotional well-being. Therefore, it is critical for individuals with autoimmune disorders to receive proper care and support and for society to be more aware of their challenges.

It was only when Husna began to research her symptoms herself that she discovered sarcoidosis. She tried to explain this to the doctors, but they were not convinced as they didn't know anything about the disease and didn't know how to diagnose it. She then joined a sarcoidosis community on the internet. “I shared my condition and symptoms there,” says Husna, “I got to know that there are many other people who have the same condition, and from some users I got to know about how to test this disease.”

The test was similar to the test for cancer. Husna went to the doctors and asked them to carry out the test. But you don’t have cancer, they said. She asked them to carry out Positron Emission Tomography (PET) scans, chest CT scans, biopsies and X-rays. The doctors were nonplussed. Medical professionals in Pakistan don’t carry out PET scans as it is usually done for cancer patients only. “We are very far behind in medical research. The doctors don’t believe you even if you are telling them something they are ignorant about,” laments Husna.

“The doctors who carry out the tests kept asking where the cancer was,” Husna recalls. “I told them about sarcoidosis and in front of me googled it [for they were hearing the name for the first time]. When they carried out the test, the result was positive.”

But Husna had lost too much time.

It had been five years since she started having severe symptoms of sarcoidosis. The damage had been done.

One of the most significant consequences of late diagnosis is the potential for lung damage. Sarcoidosis can cause inflammation and lung scarring, leading to shortness of breath, cough and chest pain. Lung damage can be irreversible if left untreated, leading to chronic lung disease and decreased lung function. This can significantly impact the patient's quality of life and ability to perform daily activities.

Late diagnosis can also result in other complications, such as eye problems, skin rashes or neurological problems. Husna’s vision was turning blurry, her muscles were weakening, and her lungs were not working correctly, but nobody connected all the symptoms.

Pakistan lags behind in medical research, she laments. “Abroad you have multiple options,” Husna says. “There is a panel of doctors that studies your case and then carries out the best treatment. Here, you have to do everything on your own. Even then the doctors don't believe you.”

Losing dignity

People living with chronic autoimmune diseases may experience a loss of dignity in various ways. A woman facing sarcoidosis in Pakistan may face several specific challenges due to her gender. In Pakistan, access to healthcare can be limited, especially for those living in rural areas or with limited financial resources. This can make it difficult for a woman with sarcoidosis to receive the treatment she needs. Furthermore, even if she can access healthcare, she may not be able to afford the cost of treatment, which can be expensive.

Additionally, the symptoms of sarcoidosis, such as fatigue, shortness of breath and pain can make it difficult for her to perform daily tasks and care for her family. She may also face discrimination and stigma because of her disease, which can further impact her quality of life.

A woman suffering from this rare disease may also face difficulties finding employment because of her illness and may be forced to rely on her family for financial support. In addition, the lack of awareness and understanding of the disease in Pakistan also means that she will not receive the same level of support and understanding from her community.

As she cannot perform the same duties as she used to, she can face several challenges that can challenge her dignity.

Physical limitations: A chronic disease’s symptoms and side effects can make it difficult for a person to perform basic tasks, such as grooming or getting dressed. This can lead to feelings of embarrassment or self-consciousness.

Stigma and discrimination: People with chronic autoimmune diseases may face negative attitudes or stereotypes from society, which can lead to feelings of shame or isolation.

Loss of autonomy: The disease may restrict the person’s ability to make decisions and control their own lives, leading to feelings of powerlessness and loss of dignity.

Financial burden: Chronic autoimmune diseases can be expensive to treat, and many patients may struggle to pay for medical treatments and medications. This can lead to financial stress, and having to go ask others for money can further erode a person’s sense of dignity.

Social isolation: People with chronic autoimmune diseases may limit their social interactions, as they may feel self-conscious about their symptoms or side effects or because of their limited ability to participate in social activities.

Government support for chronic diseases

It is common for governments to have limited resources available for rare and chronic diseases like sarcoidosis. Unfortunately, this can make it difficult for patients to access the specialised care and treatment they need.

In a country like Pakistan with limited resources, patients with sarcoidosis have to rely on private healthcare or seek treatment abroad. This can be costly and may not be an option for many people.

Governments must increase awareness about sarcoidosis and allocate resources to improve diagnosis, treatment and support for patients. This includes providing education and training for healthcare professionals, increasing access to specialised sarcoidosis clinics and centres, and supporting research to improve our understanding of the disease and develop new treatments.

It's also important for patients, families and advocacy groups to raise awareness about the impact of sarcoidosis and advocate for increased government support and resources.

Husna believes that people should pay more attention to chronic diseases. “The government should provide subsidies for the treatment of chronic diseases,” she suggests. “Treatments are too costly, and not everyone can finance them. Individuals with chronic autoimmune diseases need access to resources and support to help them maintain their dignity, such as physical therapy, counselling or financial assistance. Additionally, society should work to be more understanding and accepting of people with chronic autoimmune diseases and not discriminate or stigmatise them,” she adds.

Promoting inclusivity

Inclusivity for people with chronic autoimmune diseases is crucial for their well-being and quality of life. Husna, who has suffered a lot throughout her time diagnosing and treating her illness, says that there are some ways in which inclusivity can be promoted.

There is a need to increase public education and awareness about chronic autoimmune diseases can help reduce stigma and discrimination, she says. In addition, people with chronic autoimmune diseases should have access to affordable and comprehensive healthcare, including regular medical check-ups, treatments and medications.

One of the areas where she faced problems was her workplace because people don't understand the severity of chronic autoimmune diseases.

“Being a journalist, I was not granted many leaves from work, and I had to follow tight deadlines to keep my finances afloat,” she says. Employers should make reasonable accommodations for employees with chronic autoimmune diseases, such as flexible work schedules or assistive technology, she adds.

Public spaces should be made accessible for people with chronic autoimmune diseases, such as ramps and elevators for those with mobility issues. They should also have access to support groups, counselling services and financial assistance programs to help them manage the disease and maintain their dignity. Additionally, they should be treated with respect and inclusive language should be employed in conversation with them.

By promoting inclusivity for people living with chronic autoimmune diseases, society can help ensure that these individuals can live full and meaningful lives despite their challenges.

Promoting research

Orphan diseases like sarcoidosis will get more attention and funds in the coming years, as many countries are starting to acknowledge the importance of focusing on rare diseases and providing more resources for research and treatment.

It is crucial for a patient of sarcoidosis to seek out accurate information, connect with support groups and organisations, and find a qualified healthcare professional who can provide a proper diagnosis, treatment and care. They also should follow up with their doctor regularly to monitor the disease, even if it is in remission.

Teaching others

Husna hopes nobody has to suffer what she has had to endure, and especially not any women. She has experienced how women are treated with diseases and how doctors pass on discriminatory comments to female patients who are looking for a cure.

Following this, she developed a non-governmental organisation (NGO) under her mother's name, the Kulsoom Foundation. The foundation is raising awareness among the public and doctors about this disease. Husna believes that there are many sarcoidosis cases in the country, but lack of awareness prevents its diagnosis.

Husna has also made a documentary on her struggle with the disease. She is getting weaker daily, but she wants to do the maximum she can for others. She holds multiple awareness camps, researches, develops awareness posters to be put up in hospitals. “I don't want others to go through the intense pain I had gone through,” says Husna. “I want them to be treated well medically and socially.”

You can watch a documentary by Kulsoom Foundation on the life of Husna Ali here

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