Rare disease story

A rare disease stopped this woman from standing until she was 15 - and now she's working to help others

“It was the most magical moment of my entire life.” She was 15 years old, in a leg cast and recovering from what would prove to be life-changing surgery, when she accidentally put her foot down while moving from her wheelchair into a car.

“I sort of stood there straight with my back actually up and my hips back. I’d always thought, what would it be like to pop up?”

But the journey to that one moment was a long and complex one for Chediak, the World Economic Forum’s Project Lead on Precision Medicine & Rare Diseases.

She was born with a rare condition called arthrogryposis, which causes excess fibres to grow in muscles and joints, making those joints permanently fixed and bent across the body.

“When I was born, my neck was on my right shoulder. My arms were bent inward,” she explains.

“My knees were both bent, my hips were bent upward. And both of my feet were clubbed, entirely back against my heels like a golf club – but clubbed in different ways to keep it interesting.”

Raising awareness of rare diseases

More than 300 million people live with one or more of the more than 6,000 rare diseases around the world, according to the organizers of Rare Disease Day, which takes place on the last day of February each year.

Around one in 20 people will live with a rare disease at some point in their life, but there is no cure for the majority of rare diseases - and many go undiagnosed.

One-in-three children born with a rare disease will die before they reach the age of five.

“That is because the average time to get a diagnosis is seven years. So you die before you even have a diagnosis,” says Chediak , who was diagnosed with arthrogryposis when she was five. “The fact that I’m still here, whether or not standing, just being alive, is a gift.”

But it took another 10 years, 25 exploratory orthopedic surgeries - costing more than $5 million, and even a symposium of international doctors examining her - before Chediak was able to walk upright.

The breakthrough happened one summer holiday. While her friends were at summer camp, 15-year-old Chediak was in the operating room having parts of her femurs cut out. Metal plates were fitted to correctly align and support her bones. She spent weeks sitting, waiting for things to heal – waiting for her bones to regrow.

Now in her late twenties and with a Masters in Public Policy and Inequalities, Chediak is working to speed up that process for others with diseases. The World Economic Forum is developing data-sharing frameworks so the insights gleaned from patient and clinical data can be used to rapidly diagnose diseases and define tailored treatments that improve the quality of patients’ lives.

Chediak says there needs to be more international collaboration to share patients’ clinical records to help other patients with treatment plans.

The first step is getting a diagnosis and a genome sequence to confirm that diagnosis, which enables comparisons between different patients with the same disease.

“Right now, there's no way for someone in the UK to look at my genome to compare our diagnoses and come up with a treatment plan. I've met every other person with my rare disease and not a single one of them is walking because they can’t get access to my clinical record. There is no collaboration to help share these very time-sensitive treatments when they do work,” Chediak notes.

A very personal story

For the first few years of her life, Chediak had no reason to feel different from anyone else. She has a twin sister who does not have the condition, but it was only at school that she realized she couldn’t move in the same way as others.

“I was a pretty gung-ho child and refused to use a wheelchair. I just tried to walk hunched over at a 90-degree angle. Both my knees were bent and my back was bent over, but that felt totally normal.

“Then I arrived in school and saw everybody else actually able to move. I couldn't keep up walking to the drinking fountain. I couldn't actually bend up enough to reach the drinking fountain.

“I'll never forget everyone running out of the classroom at break-time to run over to the play structure. And I just couldn't move. You know, I kind of looked at everybody and was like, why?”

Back at home, Chediak started to look at herself in her parents’ full-length mirror.

“My body felt totally normal and yet it looked weird. I started to realize, my arms are bent, my head is, you know, on my shoulder.”

Her parents consulted doctors across the length and breadth of the US for help. One of the challenges facing people living with rare diseases is that their conditions are outside of most doctors’ frame of reference.

The less common a particular illness is, the less likely it is that a family doctor or GP will have encountered it before. That can lead to a very long wait for an accurate diagnosis and a proper assessment of treatment options.

“You have to brief your doctor on your condition, which is wild because they're supposed to know more than you,” she says.

Rare disease = even rarer treatment

Some of the more widely-known examples of rare diseases are cystic fibrosis, muscular dystrophy, spina bifida, amyotrophic lateral sclerosis, and sickle cell disease.

The majority are genetic conditions, some are triggered by infections or allergies and some have environmental causes. But few or no cures exist.

The search for treatments and cures draws heavily upon genetic research, seeking to find the connections between genes and particular conditions.

So being able to connect researchers around the world with each other’s data and insights, as the Forum is hoping to do, could help to accelerate the discovery of life-changing medical treatments.

In Chediak's case, the treatments she has been able to receive have been disparate and focused on specific symptomatic difficulties.

“I have no treatment plan to address my recurring bone fractures, severe mobility limitations and immobilising pain,” she explains.

She sees separate orthopedists for her knees, feet, back, neck and arms. “I don’t have a doctor regularly checking in on me from a holistic perspective – just a foot surgeon who graciously became an expert on my condition out of kindness.”

Chediak still needs bone transplants in her feet every year and there’s an uncertain future ahead: “I have no idea how much longer I will be able to walk.”

To others with rare diseases, she encourages them to keep fighting and asking for answers.

“When one doctor told me there was nothing he could do, I went to another doctor. You have to find someone who is willing to help you. There are so many incredibly brilliant doctors out there who have potential solutions, you just have to keep banging down their door - politely - and asking for answers.”