Afkary

S’porean seniors share how they live life to the fullest even after rare, incurable, disease diagnosis Only about 100 people have been diagnosed with this condition in Singapore. Zi Shan Kow Since she was 40, Nicole has had relatively common health problems – high blood pressure, high blood sugar and high blood lipids. During her yearly polyclinic checkup at age 60, however, she told the doctor that she felt some numbness in her big toe, which could be a sign of diabetes. After mentioning that her brother’s son had a certain disease, Nicole’s doctors turned to a likelier cause – a condition known as Transthyretin Amyloidosis (ATTR). ATTR is a systemic disease caused by misfolded proteins produced by the liver and causes diseases to organs when it deposits in the organ. It can eventually cause heart failure when the misfolded protein is deposited in the heart, leading to thickening and stiffness of the heart muscles. Nicole’s leg numbness is due to deposition of the misfolded proteins on her nerves, damaging them, and as time progresses, leads to muscle weakness which affects her walking. She experiences bouts of dizziness and diarrhoea and has gone under the knife for her vision issues, all of which are other symptoms of the disease. Things started to click for Nicole when she suspected that her late brother and mother, who displayed similar symptoms and passed away at 62 and 71 respectively, also had the same condition. Her condition is hereditary, but can also develop with ageing. It is also rare and incurable, with only about 100 diagnosed patients in Singapore. According to Kay Ng, a doctor and senior consultant at the division of neurology in the National University Hospital, experts believe the disease may be more common than we think as it is likely underdiagnosed. Nicole, 64 Nicole’s brother’s son, just two years younger than her, took a long time to get diagnosed. He struggled with the disease for over 10 years, was later diagnosed with brain cancer, and passed away just last year. Undeterred by her condition, Nicole spends her time singing karaoke, watching Taiwanese shows and playing mobile games. Her family and friends support and encourage her in every way, and she hopes to see more of the world while she still can. After her diagnosis, Nicole, who lives alone, revealed that she became more “shut in”. “Sometimes when I’m home alone and lonely, I think it would be better if I was dead. Why do I have to live and suffer?” But these negative thoughts are far from her mind when she is surrounded by people and enjoying herself. Eventually, she managed to come to terms with the reality of her situation, and this acceptance has allowed her to get back to her happy life. “I thought, what can I do about my situation? There’s nothing I can change. Living to 60, that’s enough for me. I am content.” Yet, she is highly aware that her legs are becoming less responsive. She struggles to walk properly and keep her balance. For her, losing mobility is her greatest concern. “If I cannot walk, there’s no point to living. I don’t want to be a burden to my children, that’s how I approach life,” she shared. These days, the numbness has spread to her other leg. Sometimes, her legs are so numb and cramp so painfully, they keep her up at night. Despite being on medications that slow the progress of the condition and help to relieve her symptoms, she laments that they are not effective enough and wishes that more can be done for patients like her. “If the medicine is too expensive, none of us can afford it. To spend so much each month, it's not possible – and we can’t look for better alternatives ourselves.” Nicole herself is unable to pay for other medications that may alleviate the progression of the disease and is proven to have better clinical outcomes. “It would be great if the government can help patients in Singapore get the best medication so patients can better control this condition,” Nicole emphasised. Thomas, 71 Like Nicole, Thomas first visited the doctor for what he thought was a minor issue in January this year – blood in his urine, which he wrote off as just a small infection. The doctor ordered a few tests. At his age, the concern on the mind of most doctors was cancer. Thomas was glad when cancer was ruled out, but his relief quickly gave way to shock and fear when he learned more about his diagnosis of ATTR. “The reports are quite negative, saying you have three to five years to live and there’s no cure.” No one he knew had ever heard about ATTR and he commented that the average person “can’t even pronounce” its name. Soon, he started experiencing more symptoms. He noticed weakness in his limbs, which has led to him falling down twice. “I can’t eat with chopsticks anymore. I can’t even button my shirt,” he shared. Despite these impediments, his perspective on life is still optimistic, which he attributes to his religion and the support of his wife, daughter, friends and church community. “It becomes more real... the brevity of life. I need to live meaningfully, and bless the people in my life. If I wallow in pity, it is a downhill slope. There's nothing to do about [my condition], but there are things I can do for others to help them.” He also got to know other ATTR patients, who helped boost his morale. Thomas joined support groups in the United States and Malaysia, and finds deep comfort in speaking with folks who feel his struggles, having gone through them themselves. He got a walking stick and more recently, a mini-scooter, to improve his mobility. This year, he even jetted off to Penang, Ipoh, Tokyo with his friends, who helped him get around. Now, he’s hoping to start a local community group to raise awareness of the condition. To Thomas, every patient should be supported, especially those with rare diseases - no one should be left behind. “Not getting support from the government is another depressing news for the patients, when we are so desperate for it,” he shared. One “big problem” that he identified is the affordability of the treatment drugs for ATTR. He wishes to “encourage the government to help improve drugs for patients who cannot afford it” and advocate for financial support for these patients. Support for ATTR Although there is no definite cure for ATTR at present, there are medications that can slow the progression of the disease, said Lim Yoke Ching, doctor and consultant at the department of cardiology at the National University Heart Centre, Singapore (NUHCS). Lim highlighted that it is key for the disease to be detected early so treatment can be done before more serious complications occur. As different ATTR patients can present different symptoms, it is challenging to diagnose ATTR, especially when they often mimic other more common conditions. To raise awareness on ATTR, NUHCS has organised webinars for healthcare professionals and patient education sessions over the years so more patients can receive the correct diagnosis. If you are keen to find out more about ATTR, you can check out this website. This form can also help you or your loved one speak to a cardiologist regarding a possible undiagnosed condition. All views expressed in this article are those of relevant healthcare personnel and patients identified therein. This is a sponsored article by Pfizer. Top images via Unsplash. If you like what you read, follow us on Facebook, Instagram, Twitter and Telegram to get the latest updates.