Our Life-changing Stories (3) - Enduring with Courage, Embracing Stern Challenges
Waiting can sometimes be an excruciating process, especially for those with end-stage illnesses who require an organ transplant. The uncertainty, with no end in sight, creates a unique burden that few can fully appreciate. Wai-ling (a pseudonym), a patient with Polycystic Kidney Disease (PKD), understands this plight all too well. Not only must she endure the pain of kidney failure, but she is also in a race against time to receive an organ transplant.
With help from the Hong Kong Genome Project (HKGP) team, Wai-ling received a precise diagnosis and gained access to targeted medication, which slowed the progression of her condition while affording her more time to wait for a suitable organ donor. At the same time, thanks to whole genome sequencing (WGS), the HKGP team was able to quickly and efficiently identify close relatives without the same disease-causing genes, thus increasing the chances of organ donation from family members.
After experiencing frequent upper abdominal pain, Wai-ling, aged 36, underwent medical examinations and was diagnosed with hereditary Polycystic Kidney Disease (PKD). The disease was not new to her, as it had already claimed the lives of several family members. When Wai-ling learnt that she too had inherited this condition, the news deeply affected her, but she nevertheless summoned the strength to face the challenging journey ahead.
As time passed, Wai-ling’s condition gradually deteriorated. Cysts first appeared in her kidneys, which then multiplied and began to erode her kidney tissue, ultimately leading to a decline in her kidney function. The cysts not only caused her abdomen to swell, but also led her enlarged kidneys to compress the surrounding organs. This compression made it difficult for her to sit, stand, eat, or even breathe. By the age of 54, her condition had deteriorated to kidney failure, and she needed dialysis to sustain her life. An organ transplant became her only hope.
Personalised Treatment Slows Disease Progression
Finding a suitable donor takes time. Amidst this uncertainty, WGS brought her hope. In 2022, at the age of 59, Wai-ling participated in the HKGP and underwent WGS. The analysis revealed a truncating mutation in her genes, confirming a diagnosis of Autosomal Dominant Polycystic Kidney Disease. With this critical information, the HKGP team determined that the targeted medication Tolvaptan could slow the progression of kidney cyst damage, thereby buying her more time to find an organ donor.
The HKGP team also recommended that Wai-ling’s family undergo targeted examinations, such as kidney imaging, and identify relatives without the disease-causing gene, potentially increasing the chances of finding a suitable donor. On the other hand, it also allowed her family members to better understand their genetic risks, enabling them to proactively monitor their health, and engage in disease prediction and prevention.
Wai-ling is bravely facing the challenges ahead, finding hope along the way. Thanks to the collaborative efforts of the Hong Kong Genome Institute’s professional teams and cutting-edge WGS technologies, Wai-ling was able to identify the cause of her illness and receive personalised, precision treatment that has effectively slowed the progression of her conditions.
Learn About Polycystic Kidney Disease
Disease Incidence
Polycystic Kidney Disease (PKD) is the most common hereditary kidney disease, with Autosomal Dominant Polycystic Kidney Disease (ADPKD) accounting for approximately 90% of all cases. If either of the parents has the disease, their children have a 50% chance of inheriting it. Globally, one in every 400 to 2,500 individuals suffers from ADPKD. Based on Hong Kong’s population of approximately 7.5 million, it is estimated that there are between 3,000 and 18,750 ADPKD patients.
Symptoms
PKD is a condition characterised by the development of proliferative cysts in the kidneys, accompanied by high blood pressure and declining kidney function. PKD can affect both kidneys, and as the disease progresses, these cysts continue to grow, gradually replacing the normal kidneys and blood vessel tissues, leading to a deterioration in kidney function. Eventually, this can result in end-stage renal failure. PKD can also cause problems in other organs, such as the liver and pancreas. In some cases, it may even lead to bleeding in the brain, which can be fatal.
Currently, there is no cure for this rare disease; however, early diagnosis, coupled with effective blood pressure control, can significantly slow its progression. Medications are now available for clinical use that, when administered early, can help decelerate the growth of the cysts.