Rare diseases: Too rare to care?

Once again, Suniti had to excuse herself from an evening of celebration with her friends. She was exha-usted and needed to take her pa-ck of medications to be fit to work the next day. While earlier she needed help to set up the subcutaneous infusion pump, these days she is able to introduce the needle bravely into her own arm.

Suniti is 25 years old and living with Thalessemia; a rare inherited genetic blood disorder that produces defective haemoglobin in the body, resulting in severe anaemia. The drug infusion will remove the excess iron in her body accumulated from frequent blood transfusions.

Since the diagnosis, soon after birth, Suniti’s life has been all about health crises, hospital admissions and medication. She struggled through her education, and hopes she can cope with her new job. Tired with fighting for life, she pushes back dark thoughts of ending it all.

For the first six years of her life, Anjali was taken to a series of doctors for muscular weakness and lung infections until she developed respiratory failure and had to be ventilated. At that late stage she was diagnosed to have Pompe disease, a rare genetic disorder that affects glycogen storage resulting in damage to multiple organs and muscles in the body.

Without treatment the prognosis was poor and Anjali’s parents left no stone unturned, even selling their land and borrowing from family, to provide medical care. Today she attends class 10; an ambulatory ventilator is her constant companion, connected through a tracheostomy to her lungs. Her enzyme treatment costs Rs 1.25 crore a year and supportive care costs an additional Rs 40,000 a month.

Each year, Global Rare Diseases Day is celebrated worldwide on the last day of February. Also called ‘orphan’ diseases, they affect a small percentage of the population and are usually genetic in origin. There are around 7,000 rare diseases reported worldwide, and 50% are detected soon after birth.

The WHO defines a disease as rare when it affects less than 1 in 2,000 people; the more familiar being Haemophilia, Thalessemia, Duchenne muscular dystrophy, Hirschsprung disease and cystic fibrosis. The Organisation for Rare Diseases India reports around 70 million Indians affected by rare diseases, almost one in 20 people.
The ethical issues relate to the neglect of these patients, who are virtually overlooked by health services, government agencies and health insurance. There is no government policy that addresses this health need, and patients and families are left to fend for themselves.

Inaccessibility of drugs
Drug companies spend a fraction of R&D budget on orphan drugs (used to treat orphan diseases), as the market is small. This has resulted in insufficient approved medication for these patients; where available, they are prohibitively expensive. Enzyme drugs available today are out of the reach of most patients.

With no treatment for most of these rare diseases, patients have to rely on supportive and preventive measures and given the inevitable periodic hospitalisation, costs involved are crippling. Needless to say, health insurance plans will not cover hospitalisation costs or medication for these patients.

A critical factor is early diagnosis, which is a major challen-ge. Amidst the preponderance of malnutrition or infectious disease, paediatricians could easily miss rare diseases, as they could be difficult to spot. Delays worsen prognosis, limit treatment options and increase the cost of care. Sometimes the patient is moved through orthopaedics, psychology and neurology before a diagnosis is made.

Genetic testing has assisted in diagnosis of patients as well as family members, although more than one test may often be required. Even here, costs range from Rs 6,000-60,000. Also, there is a desperate shortage of trained genetic counselors to guide patients through the emotional trauma of diagnosis.

How can these patients claim their constitutional Right to Health in a country where the budget for health is so shockingly inadequate? While health prioritisation may seek to utilise resources where they would cover the maximum number of people, can this justify neglect of this suffering minority? Who should decide on the ‘common good’ and how resources should be justly distributed?

Adoption of a policy to address the needs of these patients will be a first step. Most rare disease societies in the country are initiatives by survivors or families, who work with doctors, geneticists, drug companies and the government to save lives.

We cannot lose sight of this vulnerable group, for, in the words of Martin Luther King Jr, ‘of all the forms of inequality, injustice in healthcare is the most shocking and inhumane’.

(The writer, an Ethicist in Medical Humanities, is anesthesiologist at St Johns Research Institute, Bengaluru)