Hong Kong Genome Institute 香港基因組中心

Every child is a gift. For Ka-chun and Wing-sze (pseudonyms), the birth of their son was like an angel blessing their lives – a precious gift that they cherished dearly. As their son Chi-hin (a pseudonym) grew, the couple began to notice that his movements were not as agile as those of other children his age, and his speech development was somewhat delayed. They took Chi-hin to various doctors, yet even after years of consultation none could make a diagnosis. It was not until Chi-hin joined the Hong Kong Genome Project (HKGP) that the medical team, through whole genome sequencing (WGS), finally diagnosed him with Duchenne Muscular Dystrophy (DMD), a rare genetic disease. Confronted with life’s uncertainties, Ka-chun and Wing-sze realised the importance of cherishing every moment. They wholeheartedly devoted themselves to Chi-hin’s rehabilitation, joined a patient group, and with the encouragement and support of others in the same plight, they and their little angel faced this rare disease together, moving forward with determination and hope through adversity. 

Chi-hin grew up in a loving and nurturing environment as the first child in the family. His first smile and cry were the most precious gifts for Ka-chun and Wing-sze. However, when Chi-hin took his first steps, his parents noticed a slight lack of co-ordination in his movements. His lower limbs appeared weak, particularly when he was playing in the park, leading to frequent falls. At the same time, Chi-hin’s speech development was found to be delayed compared to his peers. Ka-chun and Wing-sze took Chi-hin through a series of medical consultations and tests, including genetic tests, yet they were only able to determine that he had a neuromuscular condition, without reaching a definitive diagnosis. When Chi-hin eventually turned five in 2022, his attending doctor referred him to HKGP. Following WGS and analysis, the HKGP team confirmed that Chi-hin has the rare disease DMD. 

In the early stages of DMD, symptoms start with the deterioration of hip and thigh muscles, which makes standing and stair climbing challenging. As time progresses, muscle wasting continues, often resulting in significant mobility limitations and the need for a wheelchair by adolescence. Moreover, hand muscles may also gradually decline in function, affecting self-care abilities and potentially leading to life-threatening complications. Typically, patients with DMD have an average life expectancy of 20 to 30 years. 

 

Whole Genome Sequencing Illuminates the Path Forward 

Upon learning the details of their son’s condition, Ka-chun and Wing-sze inevitably felt a profound heaviness in their hearts. They are now faced with a daunting reality: frequent hospital visits and ongoing treatments for Chi-hin, and the emotional preparation for his condition worsening over time. Most heart-wrenching is the possibility that they might outlive their son. Despite the immense pressure, the sight of Chi-hin’s innocent joy fortifies their resolve. Ka-chun and Wing-sze know they must stay strong for him. They work hard to adjust their mindset, standing by Chi-hin’s side as they confront this monumental challenge together, cherishing every single day. 

Based on the WGS results and clinical data, the HKGP team concluded that existing medications had limited efficacy for Chi-hin’s condition. For this reason, they developed a personalised rehabilitation-focused treatment plan aimed at slowing the progression of his condition, enhancing his quality of life, and strengthening his self-care abilities. With the HKGP team’s support, Ka-chun and Wing-sze devote themselves wholeheartedly to Chi-hin’s exercise and rehabilitation training. Their efforts are rewarded by Chi-hin’s determined smile, a beacon of warmth in these challenging times, inspiring them to press forward hand in hand with their child. 

 

Advancing Together and Contributing to Medical Research 

Ka-chun and Wing-sze realised how important it is to connect with others in similar situations, leading them to join a DMD patient group. There, they met other families navigating similar challenges, and found a community of kindred spirits. Sharing experiences with others not only provided comfort but also inspired hope. Aware of the current limitations of medical technology in treating DMD, they have decided to contribute their genomic data to support medical research, in the hopes that it will pave the way for breakthroughs that will benefit future DMD patients. 

 

Learn About Duchenne Muscular Dystrophy 

Disease Incidence 

Duchenne Muscular Dystrophy (DMD) is a rare hereditary condition characterised by progressive muscle wasting that primarily affects males, occurring in approximately one in every 3,500 to 5,000 male newborns. The disease is caused by a genetic abnormality that impedes the body from producing a crucial functional protein called “Dystrophin”, leading to the decay and eventual demise of skeletal muscle cells. 

Symptoms 

Patients experience limb weakness due to muscle degeneration. The calf muscles often become abnormally enlarged as muscle tissue is replaced by fibrotic tissue. Symptoms such as an unsteady gait and frequent falls, typically appear in patients aged three to seven. As patients age, muscle degeneration and atrophy progressively worsen. By the ages of 10 to 12, patients usually require the use of a wheelchair. Abnormal muscle function can lead to joint deformities and impact heart and lung function. In severe cases, it can trigger irregular heartbeat and heart failure, necessitating ventilator support for breathing. 

There is no cure for DMD. Treatment primarily focuses on physiotherapy and rehabilitation, which aim at strengthening muscles and preventing muscle tightening. These interventions seek to improve the quality of life for patients and slow the progression of the condition.