Experts call for screening newborns for rare diseases.

KARACHI -- Policymakers and stakeholders must pay greater attention to the challenges posed by rare diseases in Pakistan, said experts at a conference to mark Rare Disease Day 2020 at the Aga Khan University.

Worldwide, there are over 6,000 diseases classified as 'rare' as they affect fewer than one in 2,000 people. In Pakistan, these diseases are not so rare because a major risk factor is prevalent: inter-family marriages which significantly raise the risk of children born with genetic defects and disorders.

Explaining how the shortcomings in the healthcare system are affecting those living with rare diseases, Dr Bushra Afroze, a clinical geneticist at AKU's teaching hospital, narrated the story of a girl from a small town in Sindh.

The girl was eight when she started experiencing unusual symptoms, such as loss of hair, walking and balance disorder, difficulty in writing and concentrating.

Inter-family marriages major risk factor for genetic birth defects

'As her problems appeared to be neurological, she was taken to a neurologist and mistakenly diagnosed with a non-treatable disorder, preventing her from receiving timely treatment. When she started to experience additional symptoms such as the tendency to repeat words, she was thought to be 'crazy' - leading to more distress for her and her family,' Dr Afroze said.

Drugs in short supply

Thankfully, her parents continued to feel that something was wrong and searched for help. They were finally referred to one of the country's few genetics specialists in Karachi to learn that their daughter has remethylation defect in Vitamin B12, a serious metabolic disorder.

The girl was prescribed disease-specific 'orphan' drugs - medication for a condition so rare that it is not feasible to mass produce - that are very expensive. 'Such drugs are imported and often run in short supply, which in turn represents an emergency with potentially fatal consequences for the family as the patient must have medication daily and require continual monitoring and management of her condition,' Dr Afroze said, sharing how families with patients of rare diseases suffered in society.

'Quality is not a given,' Dr Afroze said. 'Ensuring quality treatment for rare diseases will take vision, planning, investment, compassion, meticulous execution, and rigorous monitoring, from the national level to the smallest, remotest clinic.'

Providing quality care to patients with rare disease, she pointed out, required high-quality...