A five-year-old girl with Spinal Muscular Atrophy (SMA) receives a Spinraza injection. This is the first case in Malaysia!
The doctor once told the parents that she could only live for two years. However, under the care of her parents, the girl showed her strong will to grow up. The now five-year-old girl finally found a suitable medication, but the family is having financial difficulties, so the parents cannot afford the substantial treatment expenses of RM145,000.
Although the little girl, Yu Jia Xuan, was unfortunate as she missed the golden treatment period before the age of two, luckily, she found a suitable treatment plan by injecting a gene medication named Spinraza. However, she needs long-term injections, and the drug cost is high.
Little Jia Xuan was born in Sarawak. For her to receive medical treatment, her family moved and settled down in Kuala Lumpur last year. Jia Xuan was born like the other infants, but the cute little angel gradually lost her vitality and could not move her feet when she was five months old.
Her parents once thought it was just a side effect of her vaccinations, but she was still unable to flip over her body or walk when she was one. It was when they realised something was amiss. The doctor then suggested she undergo genetic testing, and the report confirmed that Jia Xuan was suffering from SMA type two, and both her parents were carriers.
The doctor told them frankly that SMA was incurable and her condition would worsen. She would not be able to walk, and she might even die of respiratory failure at age two. At that time, she was only 18 months old.
Due to their limited understanding of rare diseases, her 41-year-old father, Yu Kong Chai, and 36-year-old mother, Voon Jian Jian, started anxiously looking for alternative treatment options, such as massage, acupuncture, physiotherapy, osteopathic, etc., after they heard from the doctor that the girl would only live for two years. Although the effect was minimal, Jia Xuan could raise her arms and head after the treatments.
Currently, Jia Xuan cannot stand, crawl or flip her body over. She needs support to sit steadily. Her parents will help her with simple leg exercises, and she can move and raise her arms on her own. Those exercises help her to move her limb muscles.
【The whole family moved from Sarawak to Kuala Lumpur to get better treatment for the daughter】
Last year, a doctor told the parents that a clinical trial on SMA would be conducted in Malaysia. However, one of the conditions was that the patients needed to stay in Kuala Lumpur for more than 16 months. Therefore, the family moved from Sarawak to Kuala Lumpur last December. However, due to the slight curve in Jia Xuan’s spine, she failed the final test of the clinical trial and was disqualified.
Her parents were at a loss and helpless. However, they got to know the parents of another child with SMA and learned about alternative treatments from them. SMA is an autosomal recessive neuromuscular disease that causes progressive muscle weakness and muscle atrophy as the SMN2 gene in the body fails to provide enough protein to the body’s muscles.
Spinraza injection is one of the medications used to treat SMA, which is a rare disease. The medication helps prompt the body to produce more SMN protein. It is an intrathecal injection that requires four injections in the first two months and then once every four months. A patient will need nine injections in two years.
After various examinations, the doctor found that Jia Xuan’s lumbar spine was not curved, so it would not affect the medication injection. Furthermore, her body is suitable for this treatment. However, she needs long-term injections for the rare disease medication, and the cost is substantial. Her parents were helpless. Hence, they approached One Hope Charity for help.
【The girl went through various tests, and the doctor confirmed that she is suitable for the new treatment plan – the injection of Spinraza】
Although Jia Xuan missed the golden treatment period before age two, she now found a new treatment plan. After going through various tests and examinations, the doctor confirmed that she could receive a Spinraza injection.
The little girl will undergo her treatment at the Thomson Hospital in Kuala Lumpur. It is one of the hospitals in Southeast Asia that has been approved by the US Food and Drug Administration (FDA) for Spinraza treatment for spinal muscular atrophy (SMA) patients. The hospital will also provide a special charitable price to the foundation for the ward and hospital equipment charges.
Jia Xuan was previously receiving treatment and follow-up visits in government hospitals. Her parents paid for her physiotherapy, osteopathy and Chinese medication treatment through their savings. As the parents moved to Kuala Lumpur within a short time, and they need to take care of Jia Xuan, they are both currently unemployed.
Kong Chai ran a small business before the pandemic, and he became an odd-job worker taking up building painting jobs after the pandemic. Jian Jian is a housewife. The family rents a house in Kuala Lumpur, which Jian Jian’s father pays. The car they use is lent to the family by Kong Chai’s family member.
As the family currently has no income, the couple relies on their savings and money borrowed from their friends and family to live. With little money in their pockets, they are worried about how to pay for Jia Xuan’s treatment so that the girl can continue to survive.
After reviewing the case following a home visit, One Hope Charity decided to assist little Jia Xuan in raising the medication fee of RM145,000 she needed.
Her family agreed to fully authorise One Hope Charity to take charge of the fundraising and collect donations from the well-wishers on their behalf. Call One Hope Charity’s hotline at 04-539 9212, 016-419 2192, 019-232 2192 or 018-911 4192 if you have questions.