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<\/p>\nSINGAPORE \u2013 Mr Mohamad Shahrel Hamid has two rare conditions that have caused him much suffering, including the loss of his left leg. <\/p>\n
But he could have been spared the pain of one of the conditions, if it had not been diagnosed only many years later, after he became a father to two daughters who inherited the condition from him. <\/p>\n
The 45-year-old spent his childhood and teenage years racked by unexplained fevers, ulcers and diarrhoea. <\/p>\n
\u201cI was a constant visitor to the hospital, but I was only given medication to control the symptoms. Once they were managed, I could go home only to have them start again soon,\u201d the general worker said. <\/p>\n
Then, during his national service, he discovered a painful swelling in his left ankle. \u201cAfter seeing the doctor and taking the medication, the pain went away but the swelling stayed. Since there was no pain, I carried on life as usual,\u201d he said.<\/p>\n
However, the pain returned in May 2024, this time worse than ever. Mr Shahrel, a father of five, could not put any weight on his left leg. <\/p>\n
\u201cI was referred to Tan Tock Seng Hospital (TTSH), where doctors found the benign tumour in my ankle. It was removed in July, but two months later, it grew back and spread to behind my knee, in my groin area and below my stomach,\u201d he said. <\/p>\n
Mr Shahrel was asked to amputate his leg to save his life \u201cbut at 44 and providing for my wife and five children, I could not\u201d, he said. <\/p>\n
He was then given oral chemotherapy to help subdue and shrink the tumour.<\/p>\n
It did not work.<\/p>\n
Dr Lim Xin Rong, a senior consultant at TTSH\u2019s Department of Rheumatology, Allergy and Immunology, told The Straits Times that the growth on Mr Shahrel\u2019s ankle was a tenosynovial giant cell tumour, which is rare. <\/p>\n
\u201cIt affects the lining of joints and tendons. Most tenosynovial giant cell tumours stay localised and do not spread to other organs, but in Mr Shahrel\u2019s case, the tumour regrew and spread to the lymph nodes in his groin,\u201d she said. <\/p>\n
<\/p>\n
(From left) Ms Lim Chia Wei, principal genetic counsellor at Tan Tock Seng Hospital Centre for Precision and Genomic Medicine, Mr Mohamad Shahrel Hamid, who has haploinsufficiency A20, his daughter Nurul Naqisyah Mohamad Shahrel, and Dr Lim Xin Rong, a senior consultant from the Department of Rheumatology, Allergy and Immunology. <\/p>\n
ST PHOTO: AZMI ATHNI<\/p>\n
The medication helped to control Mr Shahrel\u2019s fevers, oral ulcers, gut problems and blood abnormalities, but it could not stop the growth of the tumours in his ankle and lymph nodes.<\/p>\n
After the lymph nodes over his groin ruptured in November 2024, resulting in serious bleeding and infection, doctors had to remove part of the pelvis together with his left leg in March 2025. <\/p>\n
Mr Sharel lost all hope \u2013 especially as his two daughters were also suffering the same symptoms he faced in his youth \u2013 but a lifeline was just around the corner. <\/p>\n
Ms Nurul Naqisyah Mohamad Shahrel, 18, and her younger sister Noura, eight, also suffered from the unexplained fevers, ulcers in the mouth and diarrhoea. Both girls had become frequent visitors to KK Women\u2019s and Children\u2019s Hospital (KKH). <\/p>\n
After Ms Nurul was admitted to KKH with a persistent fever in October 2024, Dr Bianca Chan, a consultant with the Rheumatology and Immunology Service, suspected an underlying genetic autoinflammatory condition and genetic testing was planned within three days. <\/p>\n
Ms Nurul\u2019s report showed a genetic mutation, confirming the doctor\u2019s suspicion. <\/p>\n
Ms Nurul was diagnosed with haploinsufficiency of A20 (HA20) \u2013 a rare condition where the immune system loses the A20 protein and becomes overactive, leading to excessive inflammation all over the body.<\/p>\n
Dr Chan said that HA20 is a fairly new condition that was only recently recognised as a disease entity. The first case was described in medical literature in 2016 and fewer than 200 cases have been reported worldwide as at July 2025. <\/p>\n
\u201cEven within a family who all have the same genetic mutation, symptoms can vary in severity. As HA20 can be passed down, (and) multiple members of the same family can be affected, as in this case,\u201d she said.<\/p>\n
\u201cThe difficulty in making a diagnosis and the rarity of the condition explain why Mr Shahrel\u2019s family has remained undiagnosed for so long despite him being symptomatic with recurrent ulcers, and Nurul (having the same) recurrent ulcers and fevers, and admitted many times since March 2016, when she was eight years old,\u201d she added. <\/p>\n
Dr Lim said: \u201cA late diagnosis of HA20 leads to more suffering for the patients. They may go through years struggling with unexplained health problems without a unifying diagnosis… Uncontrolled inflammation over time may cause irreversible damage to organs such as the joints, gut or kidney.\u201d <\/p>\n
With the help of Ms Nurul\u2019s genetic report, Mr Shahrel was tested at TTSH and found to have the HA20. <\/p>\n
Although HA20 can cause swollen lymph nodes, there is no certainty that Mr Sharel\u2019s tumour was related to his HA20. <\/p>\n
With a confirmed diagnosis, Ms Nurul, her sister and her father have been on appropriate anti-inflammatory treatment since late 2024. <\/p>\n
Noura, Mr Shahrel\u2019s youngest child, was also brought in for assessment and was confirmed by targeted gene testing to have the same mutation and disease. <\/p>\n
She started her treatment in January 2025, after only a few months of symptoms. Doctors say the treatment will help Noura avoid the years of suffering her sister and father went through while waiting for a diagnosis.<\/p>\n
The two sisters are at KKH, managed jointly by Dr Chan and another rheumatologist Teh Kai Liang.<\/p>\n
Having watched what her father went through, including his amputation, Ms Nurul said she was thankful the doctors were able to identify her condition as well as that of her younger sister and stave off further onset.<\/p>\n
Ms Nurul had taken time off school to take care of her father but hopes to return so that she will be able to live \u201cmy dream of becoming a physiotherapist to help others like the doctors and nurses at KKH who helped me\u201d.<\/p>\n","protected":false},"excerpt":{"rendered":"SINGAPORE \u2013 Mr Mohamad Shahrel Hamid has two rare conditions that have caused him much suffering, including the…\n","protected":false},"author":2,"featured_media":200890,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[50],"tags":[200,79],"class_list":["post-200889","post","type-post","status-publish","format-standard","has-post-thumbnail","category-genetics","tag-genetics","tag-science"],"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/posts\/200889","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/comments?post=200889"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/posts\/200889\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/media\/200890"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/media?parent=200889"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/categories?post=200889"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/tags?post=200889"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}