Student Raphaella Gautama is currently the only person in Singapore with a condition called fibrodysplasia ossificans progressiva, which limits her movement. ST PHOTO: AZMI ATHNI
SINGAPORE – NTU student Raphaella Gautama is slowly “turning into stone”.
The 20-year-old wheelchair user has a very rare condition called fibrodysplasia ossificans progressiva (FOP), which causes her muscle and tissue to gradually change into bone, causing stiffness and limiting her movement.
It all started with a fall in the bus when Ms Gautama was 13.
“It felt like I had sprained my ankle, but when the hospital took an X-ray, there was weird bone growth. The doctors did not know what it was or how to diagnose it,” she said.
She told The Straits Times that she was in limbo for two years as doctors tried to find out what was causing muscle and tissue in her lower back and hip to fuse and turn into bone, causing pain and stiffness.
Ms Gautama is determined not to let her health condition define her or “scuttle my ambition to do well in life”. ST PHOTO: AZMI ATHNI
“We made regular trips to the hospital for blood tests, scans and X-rays, but each time, we returned home disappointed. There were no answers,” said Ms Gautama, who is pursuing a bachelor’s degree in linguistics and multilingual studies.
Then, in June 2019, she was referred to Associate Professor Angeline Lai, who suspected the teen had FOP and “convinced my mother to send me for genetic testing”.
She tested positive for FOP. The condition is also known as stone man disease or Munchmeyer disease.
Prof Lai, a senior consultant from the Genetics Service at KK Women’s and Children’s Hospital (KKH), told ST that FOP is “an ultra-rare genetic condition”. The body makes extra bones where bone should not form, including in muscles, tendons, ligaments and other connective tissue.
FOP is caused by a mutation in a gene that plays a role in the formation of the skeleton in the embryo. It arises due to errors during DNA replication.
“Bridges of extra bone may form across the joints and lead to stiffness, locking and permanent immobility. In a sense, people with FOP develop an extra skeleton. The extra bone formation usually starts within the first two decades, with most having an onset before the age of 10,” she said, adding that the unusual appearance of the big toes at birth could also serve as an early clue.
“Inflamed and sometimes painful swellings that look like tumours appear typically in the shoulder and back areas. Because of the rarity of FOP, these swellings may be thought to be cancer or benign tumours. The swellings eventually resolve but they leave behind a new piece of bone,” Prof Lai said.
“If a child with FOP has a fall, the area of injury may develop into an inflamed lump and later into new bone formation,” she added.
The condition affects approximately one in a million people worldwide and the median life expectancy is 56 years, based on available literature.
Dr Lena Das, a senior doctor with the rheumatology and immunology service at KKH, said: “Anecdotally, some patients live productive lives into their seventh decade, despite severe disability. Death often results from breathing failure.”
Ms Gautama is currently the only person with the condition in Singapore, which might be why it took two years before she was diagnosed.
“Raphaella is only the second patient with FOP whom I have seen, with the first being almost 20 years ago,” Prof Lai said.
“(When she first came) to KKH’s Rheumatology and Immunology Service in February 2019, Raphaella had multiple areas of pain and joint limitation. The MRI showed inflammation and joint damage that is associated with arthritis... She was referred to our genetics team that made a conclusive diagnosis after a few months,” said Dr Lena, who is managing Ms Gautama’s condition.
Dr Lena was referring to flare-ups – the unpredictable episodes of soft tissue swelling, and pain that reduces movement, stiffness and warmth that people living with FOP experience.
Flare-up symptoms usually resolve within eight weeks, although this may take longer if the back or hips are affected.
Dr Lena said while FOP is a disease of connective tissues, such as ligaments, tendons and skeletal muscles, “certain muscles like the diaphragm and tongue seemed protected. (The heart) muscle and smooth muscles are not involved”.
There is no cure for FOP and its management is supportive. Unfortunately, palovarotene, the only US Food and Drug Administration-approved drug therapy developed primarily for the treatment of FOP, is not available in Singapore.
“What we aim for is to minimise the flares and control new flares when they happen. Raphaella is on Gleevec, (used primarily for treating cancers), which serves the same purpose.
“While literature is sparse, this drug has been used to good effect in FOP patients and has so far worked quite well on Raphaella,” Dr Lena said.
Taking the condition in stride
Instead of feeling despondent after she was diagnosed, Ms Gautama said she and her parents “actually felt a sense of relief”.
“We finally knew what I had and were able to deal with it instead of going to the hospital only to be disappointed each time with the non-diagnoses,” she said.
Ms Gautama was determined not to let her condition define her or “scuttle my ambition to do well in life”.
“I do not wish to lower my own standards just because I have more difficulties than the next person,” she said.
Ms Gautama said that, at first, it was hard to explain her condition to her classmates in secondary school because in 2019, she was “still walking fine”, and then in 2020, she was using a wheelchair.
“It was easier when I went to Temasek Polytechnic. Everyone was new and we were all grappling with the new landscape. One girl there taught me a great life lesson,” she said.
After graduating with a diploma from Temasek Polytechnic, Ms Gautama received a scholarship to support her pursuit of a Bachelor of Arts at NTU. ST PHOTO: AZMI ATHNI
“I was using the socket on the floor to charge my laptop in the lecture hall. My friends had helped me with the plug earlier. At the end of the lesson, I was waiting for someone to help me unplug when this girl walked up, unplugged, and handed it to me. Then she said rather curtly, ‘If you needed help, you just need to ask rather than wait for it’. I realised she was right,” Ms Gautama said.
So the self-professed introvert learnt the importance of self-advocacy and discovered that she could pursue her aspirations with resilience on her own terms.
She said she does not overthink about her future and instead takes it a day at a time.
After graduating with a Diploma in Law and Management from Temasek Polytechnic, Ms Gautama received an Asia Pacific Breweries Foundation scholarship in September 2024 to support her pursuit of a Bachelor of Arts in Linguistics and Multilingual Studies at NTU.
To avoid having to commute, she stays at the student dormitory on campus. She said that during orientation, she learnt to take the campus bus or go to the cafeteria early to avoid the crowd.
“Otherwise, I would need to wait for a long time and that would make me late for my lectures and tutorials...
“Many people think that because I need a motorised wheelchair, I cannot walk (at all) or care for myself. I still can. I walk very short distances within my room. And if making Maggi noodles for myself constitutes cooking, then yes, I cook too,” she said with a laugh.
Correction note: In an earlier version of the story, we said that FOP is caused by a genetic mutation during the formation of the skeleton in the embryo and the repair of the skeleton following birth. Professor Angeline Lai has since clarified that FOP is caused by a mutation in a gene that plays a role in the formation of the skeleton in the embryo.
Medical Mysteries is a new series that spotlights rare diseases or unusual conditions.
Source: The Straits Times © SPH Media Limited. Reproduced with permission.
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