Treating rare diseases can break the bank

CHENNAI: The burden of rare diseases continues to be a challenge for the public health sector, especially since most of them are diagnosed in children. And if the challenge in diagnosis isn’t enough, several modes of treating them are not approved yet, and the related drugs and their affordability add to the problem.

Some of the common rare diseases are Thalassemia, Sickle cell disease, Aplastic Anaemia, Gaucher, Lysosomal Storage Disorders, Severe Combined Immunodeficiency (SCID), Chronic Granulomatous disease, and Wiskot Aldrich Syndrome.

The latest study by Lancet on ‘The landscape for Rare Diseases in 2024’, stated that around 80% of rare diseases have a genetic cause, and almost 70% of which present in childhood. While about 95% of such diseases lack approved treatments, it takes around 4-8 years to accurately diagnose these illnesses. As many as 30% of children with a rare disease die before the age of 5 years.

Difficulty in diagnosis

Rare diseases are those that occur to one individual in a two lakh population. Of the 10 lakh patients diagnosed annually in TN, there are at least 5 children with rare diseases and these are very difficult to diagnose.

Case in point is Abhinaya, a young girl from Seerkazhi in Mayiladuthurai district. She was brought to Rajiv Gandhi Government General Hospital (RGGGH) recently with Systemic Lupus Erythematosus (SLE). She could barely walk and had inflammation in her legs.

An individual with SLE usually has their immune cells attacking their own cells, which damage the organ further.

Doctors in other hospitals had suggested amputation to prevent progression of the disease. And, because of the rare nature of her disease, her illness could not be diagnosed earlier despite various hospital visits.

Because of her appeal to Chief Minister Stalin over social media, she was taken to RGGGH where a vascular study was done and her toes were made to fall off on their own. Later, her foot was supported through grafting, and physiotherapy was continued. Despite losing some toes, and the challenges that would follow her because of the diseases, Abhinaya could consider herself lucky, as she got treated after several years of hospital visits. Many children with SLE are never diagnosed due to the rare nature of the disease.

“Rare diseases are notoriously difficult to diagnose though there are signs and symptoms. There are a lot of clinical tests that are, in itself, time-consuming. If these don’t lead to a definitive diagnosis then, based on suspicion alone, genetic tests are recommended, which is the holy grail for diagnosing a rare disease,” said Dr S Srinivasan, former State Neonatal Intensive Care Unit coordinator.

If genetic tests can give a proper diagnosis, then why are they not recommended immediately? That’s because in addition to being expensive, a genetic test is recommended only when all other diagnostic measures have failed and exhausted.

Doctors stated that it was important to know the family history to determine a rare disease among new-borns. “We have to check for a genetic problem with metabolism, repeated abortions, unknown cause or death of the previous born child, and existing diagnosis of rare disease in the previous child,” he explained. “It’s easier to identify a disease if there’s an organic defect, especially where there is an organ damage or some disorder. The signs and symptoms must be evaluated and tests must be done to determine if the child has a rare disease.”

Expensive treatment

While a grant of Rs 50 lakh is provided by the Union Health Ministry to treat children with rare diseases, it’s far from adequate. For instance, Rs 50 lakh helps children with Lysosomal Storage Disorders (LSD) to get treated with enzyme replacement therapy at the Institute of Child Health (ICH).

LSDs are a group of more than 50 rare diseases. Children with these disorders don’t have enzymes that enable the lysosomes to break down proteins, carbohydrates, and old cell parts so the body can recycle them. This leads to a build-up of toxins in the patient’s body.

There are around 10 kids with LSDs getting this treatment at the ICH. However, most of these diseases do not have a known treatment or drug, but the deficiencies could be corrected for a while using injections and supplementation.

“Most kids with rare diseases die because the resources are limited. Our hands are tied due to inadequate funds. Treatments for any kind of rare disease are costly and beyond the affordability of most of these patients as medications are market-driven, which drives the cost of therapies to Rs 1-2 crore. The Union government’s funding of Rs 50 lakh may not last even a year. We have to do what we can with that,” lamented a senior paediatrician from a government hospital in the city.

Policy changes needed

Though some progress has been achieved, clear policy implementation and support from both the government and the private sector is need-of-the-hour to alleviate the physical, emotional, and financial burdens experienced by patients and their families.

Symptoms of Gauchers, Spinal Muscular Atrophy (SMA), Sickle Cell Disease Mucopolysarcharidosis type 1 and 2 and several others can be managed but they need medical interventions such as stem cell transplant, supplements, nutritional powders and injections. Life-threatening blood diseases such as Thalassemia, Aplastic Anaemia and Sickle Cell can be treated through stem cell transplants.

Earlier, Chief Minister Stalin had requested Union Finance Minister Nirmala Sitharaman to take a policy decision to exempt customs duty, integrated GST, and other such taxes on the import of life-saving drugs for SMA treatment.

In Tamil Nadu, 90-100 such cases are reported annually. The State government had also granted a special exemption from customs duty and also GST for importing a life-saving drug required for 2-year-old KS Mithra.

“Even if the Drug Controller clears a medication for treatment, they are not procured immediately. Since the disease is rare, so are the drugs in the market,” pointed out Dr Srinivasan. “Rare diseases should be categorised based on the ease of treating and managing them. Some can be managed with nutritional supplements. The common ones among the rare diseases, and also those that can be managed at a comparatively lower cost should be treated. Moreover, all new-borns must be tested for rare diseases and that should be made the norm.”

Early detection through new-born screening enables timely medical attention and interventions, potentially averting or minimising the onset of symptoms and related complications.

“By screening a new-born, conditions like phenylketonuria (PKU), cystic fibrosis, Biotinidase deficiency, and Sickle Cell can be detected in their nascent stages, allowing for early medical intervention. This significantly enhances the patient’s long-term health prospects and quality of life,” opined Chandra Ganjoo, group chief executive officer, Trivitron Healthcare.

Stem cell transplant

Stem cell transplantation involves infusing healthy blood stem cells from a matching donor into a patient to restore healthy blood production. The success of the transplant relies on a close match between the patient's and the donor's Human Leukocyte Antigen (HLA). Unlike blood group matching, HLA matching is complex and crucial.

"About 30 percent of patients in need of a stem cell donor find a match within the family, but others must seek an unrelated donor. Our immune system uses HLA markers to know which cells belong in our body and which do not. There are many HLA markers that make a person’s tissue type unique; however, matching certain markers is what is critical to a successful transplants," said Dr Nitin Agarwal, MD of Transfusion Medicine and head of department of Donor Request Management at DKMS BMST Foundation India.

"There are many patients who are in dire need of an unrelated donor for a lifesaving stem cell transplant. However, due to the lack of awareness and general misconception about stem cell transplants in India, there are only 0.04 percent of the population registered as potential blood stem cell donors," says Dr Nitin.

He added that any healthy Indian citizen between 18-55 years can register as a potential stem cell donor with a stem cell registry and we expect more youngsters to come forward for donation.

The state health department is also taking various measures to encourage the stem cell transplantation in the State. "We opened a separate stem cell transplantation unit at the Institute of Child Health for treating children with various rare diseases. Meanwhile, there are various other policy decisions in place to assist their treatment," said Dr Rema Chandramohan, director of Institute of Child Health.