This month we feature a member who is truly a pioneer and advocate for neuromuscular disorders in Hong Kong, a special administrative region in China! I had the pleasure of speaking to Dr Sophelia Chan, a physician and researcher based out of Hong Kong Children’s Hospital and Queen Mary Hospital affiliated with The University of Hong Kong.

In her early career, Dr Chan made great progress in the clinical care of patients with nerve and muscle disease in Hong Kong, slowly but surely working to increase access to care and resources which were more readily available in some of the western cities she spent part of her time training in. After much work, she has now found herself at the epicentre and forefront of neuromuscular care in her home city.

Dr Chan wears a grey jumper and black trousers. She is standing next to a model of a cartoon doctor with blue hair

Dr Sophelia Chan, our featured member in this month’s “Meet the Members” blog post, at Hong Kong University.

While in early medical training at Hong Kong University, Dr Chan loved working with children, and was initially drawn to neonatology. Over time, she realized she was also drawn to the neurologic and developmental manifestations of disease she was exposed to in this population of patients, and changed course to focus her training on neurorehabilitation/ physiatry and behavioural/ developmental paediatrics. She spent part of her training during this phase in Boston, Massachusetts, USA with Dr H. Royden Jones, Dr Basil Darras, and Dr Harry Webster. She recalls spending lots of time with Dr Rodyen Jones, a kind, inspiring and coffee-driven mentor, developing her EMG/Nerve Conduction Study skills, helping her better appreciate the utility of electrodiagnostic testing in building a differential diagnosis for patients with neuromuscular conditions.

While working with Dr Darras in the clinics, Dr Chan was excited to see so many patients with genetic diagnoses given access to appropriate genetic testing, and comprehensive multidisciplinary care. It was from this experience and combined mentorship that her interest in neuromuscular disease stemmed, and her passion to pursue further neurology and neuromuscular disorders training to help the patients of her own country originated.

Dr Chan wears a blue cardigan with a diamond patter on the front and blue trousers. To her left with his arm around her shoulder is Dr H Royden jones in a tweed jacket with a shirt and tie.

Dr Sophelia Chan with Dr H. Royden Jones in 2009 at the 7th International Conference of “Improving the use of electromyography in pediatrics” and 33rd Annual Meeting of the French Socciete d’Electromyographie Clinique” in Palais des Congres, Ajaccio

During that time, Dr Chan had an opportunity to spend six months in with Dr Francesco Muntoni at the Dubowitz Neuromuscular Centre in Great Ormond Street Hospital, where she joined as a clinical and research fellow to broaden her knowledge of the clinical manifestations of a wide range of inherited muscle disease, and learn about muscle biopsy. This was also a time where she had early exposure to clinical trials, and was hopeful to bring such work to her patients in Hong Kong some day in the future. She became good friends with Dr Reghan Foley. She was impressed with the breadth and depth of exposure to neuromuscular conditions at such a dedicated centre, as well as the comprehensive care these patients were able to receive.

Dr Chan stands on the left with a group of four other people at the 2022 Congress dinner.

Dr Chan meeting up with old colleagues and friends at the WMS Congress 2022 Gala Dinner, including (from left to right) Dr Reghan Foley, Dr Francesco Muntoni, Dr Erik Niks, and Dr Ann Agnes Mathew.

Upon returning to Hong Kong after this trip, Dr Chan met with her department leadership to discuss starting a territory-wide Neuromuscular Disorders Programme, receiving referrals from different hospitals in Hong Kong. With their support, she started building a clinic and applied for funding and grants to onboard genetic and pathology experts to join her team.

She was able to get some donations to set up special muscle protein staining for diagnostic muscle biopsies as well as getting muscle MRI technology set up for patient care. Next generation sequencing over time also started to receive some funding, and the full Hong Kong healthcare system is now using increasing numbers of multigene panels and whole exome sequencing for diagnosis.

While it took much work and perseverance, this is an accomplishment that Dr Chan feels proud of, as it has helped many patients in her home country find a medical home for their nerve and muscle disease, and over the time she has been practicing has been able to bring many diagnostic modalities she worked with abroad during her training. She and her team have also won awards and recognition for their work! Despite the well-deserved accolades, Dr Chan is truly one of the humblest individuals I have yet to meet, stating “I am just a clinician trying to care for my patients”. Despite few local mentors and generally lower resource than many of the places she went during her training, she has greatly expanded the breadth and depth of care her patients are able to receive through this programme.

A group of people in lilac jackets line the front of the stage holding banners. Above the stage, a banner reads Hospital Authority Convention 2016

Dr Chan, team leader, and her team from the Hong Kong Neuromuscular Disorder Diagnostic and Management Programme, at the Hong Kong Hospital Authority 2016 Convention receiving the award for Outstanding Team. She is grateful for the hard work and dedication of her multidisciplinary team who have worked hard with her to support this NMD program!

With the establishment of this centre, Dr Chan continued to look for new ways to push the boundaries. Towards this goal, she brought clinical trials in the field of spinal muscular atrophy (SMA) to her institute. And she is incredibly excited to have newborn screening for SMA launching in Hong Kong this coming October! She also realised at this time she wanted to branch out into the academic space, and worked towards establishing some basic science work to supplement the clinical care she provides. At this time, one of the major ongoing projects in her lab is generating cardiac myocytes (and hopefully soon, skeletal myocytes) from induced pluripotent stem cells to provide in vitro models of dystrophinopathies for use in testing therapeutics coming down the pipeline for this patient population. She is appreciative and grateful for her mentors abroad as well as her Departmental Leadership for providing her encouragement and support through the early stages of this process.

Dr Chan and her husband Mike stand in the foreground. The Ground is covered in snow. The sky is illuminated with the fluorescent glow of the Northern Lights.

A lucky photo of Dr Chan and her husband Mike catching the Northern Lights in Yellowknife, Canada in December 2022.

In her busy career with so many accomplishments, it is incredible to me that Dr Chan is able to continue some personal activities she still enjoys. She loves jogging and exercise, and even gardening. Just like Dr Voermans, Dr Chan loves gardening, preferring flowers to vegetables and growing a variety of flowers from roses to jasmines. She also has a cute, albeit naughty dog named Scottie who keeps her entertained and active. She also enjoys travel, telling me one of her favourite places to visit in the US was Yellowstone National Park. She also enjoyed seeing Yellowknife in Canada and is hopeful to someday soon seen the Northern Lights in Iceland!

Dr Chan sits on a bench in front of a window table of a cafe, wearing a checked shirt and jeans. her small, grey dog is on the seat next to her and she is feeding it from the food in front of her.

Dr Chan enjoying lunch with her friend and pet, Scottie! Scottie is enjoying her doggy pizza, and is a huge foodie!

Dr Chan is running in an organised event. She is wearing a light blue tshirt and has a race number - G2705 - pinned to her front. The banner at the bottom of the image says "Standard Chartered Hong Kong Marathon 2021"

Dr Chan has been participating in a 10K Marathon every year with her family and friends since 2016. Although she claims she is not a natural athlete and has to push herself every year, the event reminds her that perseverance is the key to accomplishing her goals!

One of my favourite parts of these interviews is hearing about WMS Congress experiences. Dr Chan, similar to others I have interviewed, has very specific memories of some of her first conferences. Actually, at her first conference in 2013, where she presented a poster on the first Hong Kong based Duchenne Muscular Dystrophy patient registry, she met Dr Ichizo Nishino who invited her to be an executive board member for the Asian Oceanian Myology Center representing the Hong Kong region, and has served on the board since 2014.

One of the things being part of the World Muscle Society has taught her is how caring and invested her group of international colleagues is in patient care. She recalls bringing a case of complicated undiagnosed twins to the pre-congress teaching course who she ultimately was able to diagnose with ACTA1-related congenital myopathy through the help of international collaborators like Dr Carsten Bonnemann. She is looking forward to joining in person in Charleston, South Carolina, USA to meet up with colleagues she considers great mentors and friends! I do hope I get to meet Dr Chan in person as well this year, so much to continue learning about in regards to her amazing accomplishments and ongoing scientific endeavours!

Dr Chan is dressed in a light blue top and dark blue cardigan. She is wearing an event lanyard and standing in front of a poster presentation board.

Dr Chan presenting her work on the Dystrophinopathy Patient Registry in Hong Kong. This was at her first WMS Congress in 2013 in Asilomar, California where she met Dr Ichizo Nishino for the first time.

Ruchee Patel, MD (The Johns Hopkins University School of Medicine/National Institutes of Health, Neuromuscular/Pediatric Neuromuscular Fellow PGY-6)

This article is presented by the

Education & Development Opportunities Committee.

Published on 21 August 2023.

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