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https://scmp.com/lifestyle/health-wellness/article/3168340/als-syndromes-without-name-rare-disease-battle-made
Lifestyle/ Health & Wellness

From ALS to syndromes without a name, rare disease battle made easier by the internet, which allows patients to find each other and offer support

  • February 28 is Rare Disease Day, a chance to raise awareness of conditions for which no drugs are made, some so rare they are Swans – syndromes without a name
  • A sufferer and experts describe how advances in genetic testing are identifying such diseases faster and older drugs are being adapted to treat some of them
Rare diseases can be detected at birth, but for 95 per cent of them there is no prescribed treatment. Photo: Shutterstock

Rare diseases affect from 263 million to 446 million people worldwide, yet little time is dedicated to them in medical school. February 28 is a day to mark rare diseases, and raise awareness of them globally.

Healthcare professionals have limited knowledge of these conditions, and no wonder, says Blayne Baker at UK charity Beacon, which is building a global rare-disease community.

Medical students are taught, “When you hear hoofbeats think horses, not zebras,” she says, meaning that a patient’s condition is most likely to be common, not rare.

A disease is considered “rare” in the United States if it affects fewer than 200,000 people. Lynsey Chediak works at Rarebase in the US, which partners with other companies to develop innovative technologies to diagnose and treat rare genetic disorders. She has a rare disease herself.

Rare diseases affect from 263 million to 446 million people worldwide, yet little time is dedicated to them in medical school. Photo: Shutterstock
Rare diseases affect from 263 million to 446 million people worldwide, yet little time is dedicated to them in medical school. Photo: Shutterstock

“There are hundreds of millions of young people who wait many years before they have the right diagnosis. I was diagnosed with arthrogryposis at five years of age, but that name encompasses a variety of diseases all of varying severity with varying symptoms,” she says.

“Over the last 30 years, we’ve learned that there is a genetic cause of many types of arthrogryposis – including mine.”

Chediak’s condition presents as excess fibres in her bones and muscles, so that her bones break every year just through daily activities. Just walking around her house or to the store can present huge risks, yet she didn’t get a genetic diagnosis until she was 28.

She had been told her condition was the result of being “squished” in utero by her twin sister – which was untrue. The correct diagnosis didn’t come until her neck broke unexpectedly, landing on her brainstem in the process, causing a life-threatening condition by cutting off spinal fluid to her brain.

Baker says that rare diseases can evade detection for years.

Blayne Baker works at UK charity Beacon, which is building a global rare disease community.
Blayne Baker works at UK charity Beacon, which is building a global rare disease community.

“They present a wide variety of symptoms that often appear unrelated on the surface. They can affect a single system in the body or multiple organs, making it almost impossible for a specialist doctor to gain the full picture to connect the dots between different symptoms that affect other areas of the body.”

On average, she says, rare-disease patients wait four years to receive a final diagnosis after consulting five doctors and enduring three misdiagnoses.

Almost all – about 80 per cent of the 7,000 known rare diseases – are genetic, like hers, says Chediak, and so they predominantly affect children. And for 95 per cent of rare diseases “there is no treatment available”.

Lou Gehrig’s disease was first diagnosed in New York Yankees’ baseman Henry Louis Gehrig in 1939.
Lou Gehrig’s disease was first diagnosed in New York Yankees’ baseman Henry Louis Gehrig in 1939.

Living without treatment options is devastating. It’s often a case of constant surgery and management – in her 29 years, Chediak has had 30 bone surgeries. She has broken the bones in her feet so often that, by the age of just 22, she had to have bone transplants from anonymous donors to replace entire bones in her feet.

Rare diseases are manifest in every part of the body and are evident right across the medical spectrum. Some are widely recognised by name, such as sickle cell anaemia and cystic fibrosis; others, such as cat eye syndrome, are less well known.

Many of these diseases are named for the doctor who identified them – Stargardt’s Disease, for example, is a type of eye degeneration and was identified by German eye doctor Karl Stargardt in 1901.

A few have been named after the patients in whom they were identified, or even the hospitals where they were first diagnosed: Lou Gehrig’s disease, a rare disease that weakens muscles and impacts physical function, was diagnosed in New York Yankees baseman Henry Louis Gehrig in 1939. It is also known as amyotrophic lateral sclerosis, or ALS.

The better known “rare” conditions – Duchenne muscular dystrophy (DMD) and haemophilia, for example – may be more familiar, Baker says, as they receive more funding and research in comparison to very rare and ultra-rare diseases.

An ultra-rare disease is fibrodysplasia ossificans progressiva, or FOP, that affects one in a million people. There are only 900 known cases, and it is the only known disease where one body system turns into another: soft tissue turns into hard bone, creating a second skeleton.

The skeletons of Harry Eastlack (left) and Carol Orzel (right). They lived with FOP, an ultra-rare disease that caused their bodies to grow bone where it does not usually grow. Photo: Constance Mensh for the Mütter Museum of The College of Physicians of Philadelphia
The skeletons of Harry Eastlack (left) and Carol Orzel (right). They lived with FOP, an ultra-rare disease that caused their bodies to grow bone where it does not usually grow. Photo: Constance Mensh for the Mütter Museum of The College of Physicians of Philadelphia

Ribbons of bone grow throughout the body often from the neck down. Flare-ups happen randomly and tend to create new bone growth in the process. It can result in hearing loss, loss of movement, swelling and difficulty eating and talking. It significantly shortens a person’s life expectancy.

Baker describes the rarest conditions, that tend to be “syndrome without a name”, or Swan, conditions. According to Swan UK, around 6,000 children are born in the country each year with a syndrome without a name – a genetic condition so rare that it’s often impossible to diagnose.

The prevalence of rare diseases in Hong Kong, according to a 2018 study published by the University of Hong Kong, is 1 in 67 of the Hong Kong population. Rare diseases have gained more awareness in Hong Kong recently, as evidenced by the development of the Hong Kong Alliance of Rare Disease in 2014.

According to Swan UK, around 6,000 children are born in the country each year with a syndrome without a name. Photo: Shutterstock
According to Swan UK, around 6,000 children are born in the country each year with a syndrome without a name. Photo: Shutterstock

New rare diseases present all the time – but, today, they are often diagnosed faster. That’s in part because of advances in genomics, says Baker: “The 100,000 Genomes Project began in 2013 and gave a new diagnosis to one in four rare-disease patients after sequencing over 2,000 families.”

Chediak notes that UK and US collaboration means that “rapid whole genome sequencing services” are available to accurately diagnose children just days after they are born.

International partnerships on rare disease are improving the future of those affected all the time. The Tipping Point Project, a genetic database of around 10,000 babies with rare diseases from 70 hospitals in the US and Canada, aims to persuade funders that this rapid Whole Genome Sequencing (WGS) should be the standard of care for newborns who are hospitalised with a rare disease, says Baker.

I was the only person I knew with my disease, which often left me feeling isolated and alone. Not even my parents could understand the pain I endured just to go to school each day Lynsey Chediak

Says Chediak, who didn’t walk for the first time until she was 15: “If my doctors had had my genetic diagnosis at birth, perhaps I would have walked as a child.” Her hope “is that no other child will have to wait 28 years for a genetic diagnosis like I did”.

Rarebase is working to find FDA-approved drugs that can treat rare diseases, too. The company has partnered with 19 patient-led foundations and 100 rare-disease patients to screen 4,000 drugs, looking at how drugs may help the underlying cause biology of each single-gene mutation represented by each foundation.

Rare diseases are gaining attention thanks to the internet and patients’ support because they can connect globally.

About 80 per cent of the known 7,000 rare diseases are genetic and predominantly affect children. Photo: Shutterstock
About 80 per cent of the known 7,000 rare diseases are genetic and predominantly affect children. Photo: Shutterstock

“When I was growing up, I was the only person I knew with my disease, which often left me feeling isolated and alone. Not even my parents could understand the pain I endured just to go to school each day,” Chediak says. Today, she has friends with the same disease all over the world, thanks to social media.

The platform also allows parents of children with a rare disease to support and learn from one another.

Chediak says it’s an exciting time for people living with rare diseases because we are on the cusp of multiple breakthroughs. And information shared will lead to faster, more effective treatment. She had to endure horrible pain and more than 10 exploratory surgeries to be able to walk at 15.

Today, she says, scientists and doctors including those at Rarebase, can do experiments in a Petri dish in a lab setting on cells to find out what treatments work and what don’t long before they’re ever tried on a child.

Her hope is that one day “all of us living with a rare disease can go to the doctor, tell the doctor our disease name or the gene that causes each of our genetic rare diseases, and receive a list of drugs that could work as a treatment”.

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