Ways to Support   |   Be a Friend   |   Be a Member   |   Feedback & Enquiry   |   Contact Us

  Find us on:    

Sign Up for E-Newsletter  

   Home » Patients » Patients Stories » 
  Patients Stories
  Patient Communities
  Clinical Trials

Yen Ling and Wei Ling

22 July 2011

The parents of Yen Ling and Wei Ling have three lovely children, each one of them so special and different from the other. Yen Ling and Wei Ling, just like their brother Sze Hong, were of average weight when they were born and their mother delivered both sisters normally without any complications.

Yen Ling started showing lower limb weakness problems when she was about two years old. She would fall easily and would refuse to walk while out with the family. Realising that she was the smallest one in her kindergarten a year later, her parents sought advice from the doctor who thought she just needed multivitamins for her poor appetite and lack of nutrition. However, her condition did not get better after taking multivitamin for a few months. She was then referred to a specialist who told her parents that besides taking multivitamins, she would need to go for a regular occupational therapy to strengthen her muscles and improve on her motor skills. After a few months of therapy, there was still no major improvement.

Wei Ling in her early months would get sick from time to time but would recover within a week. Even though she was weaker than Yen Ling and Sze Hong, she had the best appetite. Her parents thought her development was delayed due to her frequent sickness. A few months later, when Wei Ling was celebrating her first birthday, her parents realised that something was really wrong with her as she was always tired and would choke easily. At that time too, Wei Ling was sick due to a respiratory infection. For almost two months, her condition did not get better after taking oral antibiotics and she was finally admitted to hospital where her parents learnt that she had a huge heart and liver.

After a thorough check-up of all three children, the parents of Yen Ling and Wei Ling discovered that both of their girls had a type of inherited disease, they just did not know the name of it yet. Several hospital visits later, doctors informed the parents that both sisters suffered from Pompe.

Pompe is rare genetic disorder that affects one in 40,000 individuals. Most Pompe patients experience muscle weakness in the arms and legs, usually more prominently in the legs, making walking or climbing stairs difficult. Muscles used for breathing are also often affected, making it difficult to breathe, especially when lying down. In infants, the heart is usually affected, resulting in greatly enlarged heart and other heart problems.

Treatment for Pompe and other Lysosomal Diseases is in the form of enzyme replacement therapy which can cost between RM300,000 to RM1 million per child per year. The treatment is best described as a miracle and the two sisters have benefited tremendously from the forth nightly infusions. Wei Ling who couldn’t climb stairs ascended 9 flights of steps on her own recently. The progress made by the Yen Ling and Wei Ling has made their parents strong advocates for sustainable treatment for all Lysosomal Disease patients.

For full story, please download the file, below:

  arrowYen_Ling_n_Wei Ling_story.pdf (English - pdf - 1153 Kb)   

  printer Printer-friendly version   printer Send link to a friend

| | | |
© Copyright Malaysia Lysosomal Diseases Association (Pertubuhan Penyakit Lisosomal Malaysia) 2011    All rights reserved.
Registration No: 2621-NSE
Email:       Telephone: 019-6899620