Emily was diagnosed with Pompe disease when she was 14. It is a permanent progressive muscle weakening condition that affects about 1 in 40,000 people. The condition is due to the lack of enzymes that leads to the inability in breaking down the glycogen in her body which damages her muscles, causing them to deteriorate overtime. As the disorder progresses, breathing problems can lead to respiratory failure.
There is no cure, only treatment called Enzyme Replacement Therapy (ERT), to prolong the degeneration of the muscles. It is a medication that replaces this enzyme which is missing in her body to help in the process of breaking down glycogen. It is directly infused into the bloodstream through her vein.
As a 24 year-old adult now, she will need approximately SGD 600,000 for a year's treatment and that is based on her current body weight. The infusion is done every fortnight where Emily will spend 8 hours in the hospital undergoing treatment each time. Apart from her treatment bill, she also has to pay for the ward and admission charges each time she is admitted for infusion.
Having gone through over a year of treatment, Emily feels that she has slightly more power in her strength in terms of her mobility as well as the endurance to manage her daily activites better as compared to before. Even though the strength may not last the entire day, it sure did make a difference in her whole being as she feels she can manage things better, and the treatment has so far helped to maintain her strength and breathing. This has definitely brought her some hope in this arduous journey and the continuity of treatment is vital.
Emily is now working in her church as a full-time graphic designer in hope to give back to her source of support and motivation and she is enjoying what she does. She has been an inspiration to the people around her. Despite her condition, she never complains and conversely, she was often seen encouraging her friends and lending a helping hand to others with her cheerful disposition.
Watch the full interview here.
Emily relies heavily on taking cab as a form of transportation as alternative public transportations can be dangerous especially during peak periods. Her expenses are mostly spent on transport and that takes up a huge part of her allowance. On top of that, she has to go for regular medical check-ups and tests to monitor her progress in terms of her endurance and breathing. Lung tests are critical and closely monitored so as to lower the chances of getting any infection or respiratory difficulty.
She has a strong belief in the spirit of 'Don't let the circumstances define what you can or cannot do.' Everyone deserves a chance of being treated and that reason should not deprive Emily a chance of feeling better each day. She is fighting with every hope she is given to continue this treatment.
support means a lot to Emily and will make a difference. With the little help you give, it will ease her load on her daily expenses, admission charges and funds needed for treatment.
Thank you in advance for sharing some love and helping her in running this race.
Find out how Emily got nominated as ‘The Hero Patient’ who never fails to display a cheerful disposition despite the odds she is facing - http://www.tnp.sg/news/singapore/hero-patient-faces-rare-disease-smile
Read more about Emily’s everyday life and how she goes about overcoming her struggles - http://givetoemz.wixsite.com/emzpompe
Read more on Emily's feature by Lianhe Wanbao -