An Unlikely Road To Recovery

After being diagnosed with a rare disease, Karen Cheng's life drastically altered course, then the unexpected happened.



Dr Karen Cheng knew something wasn’t right when the tiredness started. But, as a fitness enthusiast, whose hobbies included running, rock climbing and scuba diving, she thought it was probably nothing more than the flu. Slowly her exhaustion worsened, until everyday tasks like housework or climbing stairs in the hospital she worked in as a dental specialist became impossible.

“It started with very slight symptoms, but even as a medically trained person, I ignored them,” she says. “They just got worse and worse until one day my friend was dropping me home after seeing a movie and I couldn't get out of the car.”

Karen - who is now Product Medical Lead IG, Global Medical Affairs, Immunology and HAE at Shire - was rushed to the hospital, where she underwent a raft of tests. “They came back to me with three differential diagnoses, all of which sounded weird and wonderful. I had seen them in the past in a small corner of a medical textbook – it was surreal.”

Given the life-altering diagnosis of polymyositis, a rare immune disease causing inflammation of the muscles, Karen, then 30, began an arduous journey as her doctors searched for the right therapy. With no specific drugs for her rare disease, many treatments involve off label usage.

“I thought I could take a pill and it would be fine, but it was a protracted process,” she says, recalling her five-month hospital stay. “I was completely bedridden, and I couldn't do anything myself. At one point I couldn't swallow, so had to be tube fed. There was a lot of fear and uncertainty and I had to learn patience.

“Eventually the doctors were just experimenting on me with different combinations of drugs. One therapy wouldn't work on its own, so I became a triple therapy person, which meant I had steroids, a second line immunosuppressant and a third line immunomodulatory drug ­– IVIG – immunoglobulin. It was helping my body to regulate the immune attack on my own muscles.”

Immunoglobulin proved to be the most effective treatment for Karen’s condition, and the regular infusions were a touchstone during her two-and-a-half-year recovery period. Wheelchair-bound when she self-discharged from hospital, Karen hired a carer, moved in with her parents and started trying to rebuild her life.

“It took a year-and-a-half to walk again. I wasn’t going to go back to clinical practice because I thought it may come back – this is a chronic disease, it’s life-long, and I am very lucky that I recovered. I would say I am about 70 per cent of what I used to be.”

With a background in dentistry, and a lifelong ambition to work in healthcare – her father had a rare cancer when she was young, so she wanted to become a doctor from when she was just eight – Karen wanted to stay in the industry. She was able to move from working in healthcare clinical work as a surgeon at a community clinic to the business side of a healthcare conglomerate, learning business management on the job during her recovery.

After returning to a manageable level of health, and studying an MBA to formalize her new business learning, Karen moved to Japan for a new job working on product launches. Continuing her treatment in Tokyo, she learnt that rare diseases are treated differently across the globe, as doctors there encouraged her to try an anti-organ rejection drug, which brought markers for her disease down notably. “It was nice to experience a different healthcare system and a change in medication even though I was nervous of it,” she says.

After subsequent moves to Basel, Switzerland, and Boston, USA, she was very happy to permanently settle in Switzerland, in no small part due to its healthcare system. “I regard it as one of the best places for someone with a rare disease. Health insurance is mandatory, they don’t discriminate against any pre-existing disease.”

It was in 2016, after several years working as a product manager in the dental arena, that she began to question her trajectory. “I asked, ‘Is this what you want to do for the next 20 years? Is dentistry where you want to end up?’ My first ambition was to be an oncologist, because of my father, and then autoimmunity, because I was hit with this disease.”

Refocusing on rare disease, Karen began researching her options in Switzerland, and applying for pharmaceutical jobs. After proving herself through attending conferences, enrolling in pharmaceutical courses, researching trials and learning about the industry, she began applying for medical affairs, patient services and patient advocacy positions, eventually netting an entry-level medical affairs global launch excellence role at Shire, in the genetic or rare disease sphere.

Now, incredibly, 12 years on from diagnosis, Karen works in immunology, sitting directly with the therapy – immunoglobulins – which brought her back to health. “When applying for the job, I said I knew I hadn’t worked as an immunologist, but my motivation was from having an autoimmune disease and I’d learnt a lot about it. I was really happy because the therapy I was to be in charge of was immunoglobulins, which is exactly the thing that has helped me through all of the 12 years I’ve had this disease.”

She works on the use of immunoglobulin to help treat primary and secondary Immunodeficiencies and some autoimmune and neuroimmunological conditions. “There is a lot of off-label usage of immunoglobulins today in many rare diseases, yet pharma companies are not able to register all of these diseases, partly because of the regulatory requirements and significant costs to run clinical trials,” she says.

“That means that in some countries and health systems, patients that could benefit from off label usage can’t get the drug, can’t afford it or patients and doctors are not even aware that they could perhaps apply to pharma companies for compassionate use. There’s more to be done from the medical affairs point of view in terms of education and being able to work with patient societies.”

For Karen, the mission is understandably personal. “In my case I believe that if I would have had immunoglobulin right from the start, I don’t believe I would have been in a wheelchair for a year-and-a-half.

Hers is a truly unique perspective. “For me it’s a bit special because I am working in the therapeutic area of my own condition. Every patient is different, so my experiences are going to be different to whoever sits next to me. But I’ve had the insights from being in the hospital bed and looking at the situation from the other side.

“Through everything I’m involved in – medical planning for congress symposiums or other educational activities, publication strategy meetings, discussions with my clinical development colleagues, supporting life cycle management and brand planning– I’m first and foremost wearing my professional hat, but I always pause to take a step back and think about what I, as a patient, would want this company/brand to say to me.”

Click here to read our previous Patients in Pharma articles


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