Our Life-changing Stories (2) - From Diagnosis to a Legacy of Love and Hope
Every mother hopes that her children will grow up healthy and happy. For Lai-kuen (a pseudonym), however, who endures the prolonged suffering caused by various symptoms of a rare disease, there is a lingering concern that her children may also encounter similar health challenges.
After years of living with an undiagnosed disease, Lai-kuen’s life reached a turning point when she participated in the Hong Kong Genome Project (HKGP) in 2022. The results of whole genome sequencing (WGS) finally revealed that she has Fabry disease, a rare genetic disease. This long-sought diagnosis not only facilitates personalised treatment for her but also allows her asymptomatic daughter to take proactive preventive measures.
As Lai-kuen entered the second half of her life, she remained dedicated to her family’s well-being. However, having witnessed both her father and younger brother battle rare inherited disorders, a sense of uneasiness lingers in the back of her mind that she might not be spared.
Upon turning 50, Lai-kuen’s body began to show signs of trouble, with elevated levels of protein, potassium, and urine creatinine. As time passed, her condition gradually deteriorated. She found herself facing end-stage renal disease, further complicated by blood clotting in her lower legs.
20 Years Later – Whole Genome Sequencing Unlocks Diagnosis
From her 50s to her 70s, Lai-kuen spent two decades searching for the cause of her illness. At the age of 71, under the attending doctor’s referral, she joined the HKGP in 2022. Through the collaborative efforts of a multi-disciplinary team of healthcare professionals, scientists, and researchers, Lai-kuen underwent WGS. Following a thorough assessment and analysis, it was confirmed that Lai-kuen was diagnosed with the rare condition known as Fabry disease.
Fabry disease is primarily caused by mutations in the gene responsible for producing the enzyme α-galactosidase (a-GAL). Patients with this condition lack this crucial enzyme, which prevents the breakdown of fatty substances called “glycolipids” in the body, resulting in an accumulation of these substances in various organs, such as nerves, skin, kidneys, and heart, causing widespread dysfunction throughout the body.
Following the precise molecular diagnosis, Lai-kuen’s doctors promptly arranged for her to begin Enzyme Replacement Therapy (ERT), supplementing the deficient enzyme and helping to alleviate her symptoms.
A Beacon for Family Health: Paving the Way for Prevention and Care
Given the hereditary nature of Fabry disease, Lai-kuen’s daughter also participated in HKGP and underwent WGS. The analysis confirmed that she, like her mother, has the same rare disease. Fortunately, she has not yet developed symptoms, allowing healthcare professionals to intervene early with ERT to reduce the risk of heart and kidney damage. For Lai-kuen’s family members who are considering pregnancy, this finding also underscores the importance of targeted prenatal testing. It can assist in early diagnosis and help mitigate potential disease risk.
Lai-kuen’s experience has enlightened her daughter and future generations of her family about their health risks, strengthening their vigilance over their health and enabling them to make informed family planning decisions. Although Lai-kuen was diagnosed in her later years, she can still manage her health through personalised treatment and make the most of her time with her cherished family.
The efforts of the HKGP team have brought significant changes for Lai-kuen, her daughter, and their entire family. Not only did it help Lai-kuen find answers to her own medical condition, but it also made her a guiding light for her family. Her journey has become a legacy of love and hope, protecting her loved ones’ health for generations to come.
Learn About Fabry Disease
Disease Incidence
Fabry disease is a rare genetic disease that affects approximately one in 40,000 to 60,000 males. While it is more prevalent in males, females can also inherit the genetic mutations associated with this disease and generally experience milder symptoms.
Symptoms
Clinical symptoms of Fabry disease include periodic pain in the hands or feet, unexplained gastrointestinal discomfort, and decreased sweating. Most patients experience kidney complications, including declining kidney function that may necessitate dialysis. The disease can also cause irregular heartbeats or heart failure. Angiokeratomas may develop on the skin of the lower abdomen and thighs in patients, and cornea verticillata may be observed.
Currently, there is no complete cure for Fabry disease. However, various treatment options are available, including Enzyme Replacement Therapy and targeted treatments specific to the affected organs and symptoms.