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Diseases so rare, even doctors don’t know of them

Whether it’s Stephen Hawking’s neurodegenerative condition or myasthenia gravis, a big part of the trauma of having a rare disease is finding the right doctor, and diagnosis.

columns Updated: Apr 12, 2018 20:17 IST
Sanchita Sharma
Sanchita Sharma
Hindustan Times
(HT Illustration / Shrikrishna Patkar)

Stephen Hawking’s rare neurodegenerative disease defined him almost as much as his physics. He used his celebrity to put the spotlight on muscle-wasting amyotrophic lateral sclerosis, posting videos of his family taking the ice-bucket challenge on his behalf to raise funds and awareness about a disease that often draws sympathy but rarely money for drug development and research.

The definition of what constitutes a rare disease varies widely, with the US defining it as a condition that affects fewer than 200,000. As a result, the number of diseases that make the cut vary too, but even going by the more conservative US definition, there are an estimated 7,000 rare diseases.

One such is myasthenia gravis, which is marked by rapid fatigue and muscular weakness so severe that the affected person has trouble keeping their eyes open. This chronic autoimmune neuromuscular disease, which affects the transmission of nerve impulses to the muscles, can strike at any age, affecting more women under 40 and more men over 60.

How diseases are defined as rare
  • The definition of what constitutes a rare disease varies widely, with the US defining it as a condition that affects fewer than 200,000.
  • As a result, the number of diseases that make the cut vary too, but even going by the more conservative US definition, there are an estimated 7,000 rare diseases

There is no cure and people affected have to take prescription medication for life to control the symptoms. Despite treatment, relapses may occur, sometimes severe enough to need hospitalisation.

I witnessed one such relapse when a friend suddenly caved in without warning — eyelids drooping, slurring of speech, muscles weakening so much she stumbled as she walked. Apart from her prescription medication, which she had taken just before the relapse, she needed to sit very still for a while before she could will herself to open her eyes.

“It’s a chronic disease. I have to take medication every four hours for the rest of my life,” she says. Even with the medication, she lives in the shadow of a life-threatening myasthenic crisis — when the muscles that control breathing become too weak to do their job and she would need ventilator support to stay alive. “Everyone in my family carries my medicines with them all the time to make sure I’m never far away from them,” she says.

She was 32 when myasthenia gravis first struck; that was a little over two decades ago. She, and the rest of her world, had never heard of it. “I had sudden tightness on the left side of my chest, trouble breathing and weakness. I thought I was having a heart attack,” she says.

Her physician thought it was a heart attack too and shook his head disbelievingly when a battery of diagnostics tests declared her free of heart trouble. The weakness persisted and there were days when even opening her eyes and sitting up in bed became impossible. “When I had an episode, it was as if I was being pressed under a tonne of weight. After a period of rest, the symptoms would completely disappear.”

Successive tests showed that she was physically healthy, so doctors started experimenting with widely differing treatments in the hope that something would show results. “I was prescribed 14 tuberculosis medicines a day without being tested for TB. When that made me sicker, I threw the medicines away,” she says.

Next came neurologists who prescribed neuromuscular drugs that she found later were contraindicative for myasthenia gravis; homeopaths who gave her countless pills; and when all else failed, she was told her weakness was psychosomatic.

“Psychologists said I was not happy, I was depressed and I should force myself out of bed. It got so bad that I started doubting myself and wondered if the weakness was all in my head,” she says. A neurologist from Apple Valley in California finally diagnosed it as myasthenia gravis and gave her the prescription medication that keeps the muscular weakness away. It had taken three years to get the right diagnosis.

Medicines got her life back on track, but the ride has not been smooth. “I’ve had several relapses. The last big one was in August, and I had to stay in a wheelchair for three weeks. Myasthenia gravis symptoms usually progress over time, worsening rapidly within a few years after symptoms first appear, but I have managed to beat them back for more than two decades,” my friend says.

What can help is nutritious food, a healthy lifestyle and minimal stress. “The biggest challenge for people with rare diseases is that even doctors don’t know about them, which makes diagnosis difficult. What worked for me was reading a lot and refusing to lose faith in myself even when I was told I was imagining it,” she says.