Caitlyn-Infantile Pompe Disease.
100%
She is only 10 months old, diagnosed with a rare disease ? Infantile Pompe Disease. The chances to be diagnosed with this disease is approximately 1 out of 40,000. She is unfortunate to become the 1 of the 8 child diagnosed with this disease in Malaysia.
Caitlyn (born on 22nd September 2016) is from Bayan Lepas. She is the first child in Penang, diagnosed with Infantile Pompe Disease. She is in need of RM250,000 to support her 1 year worth of medical fees. In addition, we would also like to bring this case to the attention of Ministry of Health and State Government to provide support on her medication fees as she requires long term treatments facing this disease.
The baby girl?s body started to turn purple at birth. She was found to have large amount of phlegm pile up in her lungs. Doctor noticed her oxygen level was pretty low and noticed her heart is slightly bigger than the normal size. She was then quickly transferred to a Pediatric Cardiology specialists for further examination. The muscle of her left ventricular are slightly thicker and was diagnosed with Hypertrophic Cardio Myopathy (HOCM). She requires check up every 3 months to ensure the increasing thickness on her heart will not result in heart blockage.
During 8 months old, the family noticed she was not able to sit and turn her body and seems to be weak on limb-girdle muscle. While noticed those abnormal symptoms, the family sent her to the Genetic Specialist in the hospital in KL.
On 14th June 2017, Doctor certified Caitlyn diagnosed with a rare genetic disease - Infantile Pompe Disease. Her body is deficient on acid- alpha glucosidase (GAA) which caused the glycogen pile up on every part of her body and impacted the functional of her muscle, this included the heart muscle and obstructed the growth of Caitlyn. Her life is being threatened if she did not receive the treatment immediately.
She underwent the Enzyme Replacement Therapy (ERT) on the same day. Myozyme is used to treat according to the dosage approved by US Food and Drug Administration (FDA), 20gm Myozyme is used for every 1kg of weight and currently Caitlyn?s weight is 6.5kg. One bottle of Myozyme is 50mg and cost RM2540. Based on the weight, Caitlyn is required 3 bottle of Myozyme per therapy. Thus, only the drug itself cost RM7620 and prescribe will increase according to the increasing on her weight. Enzyme Replacement Therapy prescribed bi-weekly, one month prescription will cost RM15,240.
Caitlyn is the first child of her parent, although she has been diagnosed with rare disease, her parent still loves her dearly and continuously accompany her to battle with the disease.
This is long journey to go, even though both Caitlyn?s parent ? Father ? Ooi Poh Siang (33yrs) and Mother ? Adeline Yeap Mei Ling (31yrs) work as Engineer and with total monthly income of 10k. The cost of ERT and unforeseen heart complication which required timely hospital admission and monitoring are burdening to the parents.
Currently, One Hope Charity & Welfare Berhad is assisting to raise RM250,000 for Caitlyn one year medical fees.For further enquiry, you may call One Hope Hotline 016-4192192 or 04-5059800.
The below account was for Caitlyn?s medical fees purpose. For those who wish to donate, please bank in to the below bank account which would be very much appreciated.
Acc Name:One Hope Charity & Welfare Berhad
Bank:Public Bank
Acc Number:320 142 8817
Swift Code: PBBEMYKL
Kindly attached your bank slip and email to info@onehopecharity.com.my with your name and contact number stated in order for us to issue a receipt.
About Pompe Disease:
Pompe Disease is an inherited disorder caused by the build-up of the glycogen in body?s cells.
Pomple Disease can appear on baby, kids or adult. The symptoms and severity may differ from age, however most of the time it will experience muscle weakness and respiratory disorder. Infant who diagnosed with Pompe Disease usually will be affected by showing signs of enlarged heart and other heart problem.
Pompe Disease is genetic inherited disease from the parent. If both parent found to be carrier of Pompe Disease, every of their child may have 25% of chance to diagnose on this disease.
The chances of being diagnosed with this disease is approximately 1/40,000. It was classified as a very rare disease. Patient is required to undergo ERT to prolong their live expectancy. Myozyme was used in the therapy is to dissolve the glycogen which is converted into enzyme in order for the patient to absorb and improve the body function.
For those who have family planning are encouraged to perform body check-up as well as genetic test to track and prevent genetic diseases.
Caitlyn (born on 22nd September 2016) is from Bayan Lepas. She is the first child in Penang, diagnosed with Infantile Pompe Disease. She is in need of RM250,000 to support her 1 year worth of medical fees. In addition, we would also like to bring this case to the attention of Ministry of Health and State Government to provide support on her medication fees as she requires long term treatments facing this disease.
The baby girl?s body started to turn purple at birth. She was found to have large amount of phlegm pile up in her lungs. Doctor noticed her oxygen level was pretty low and noticed her heart is slightly bigger than the normal size. She was then quickly transferred to a Pediatric Cardiology specialists for further examination. The muscle of her left ventricular are slightly thicker and was diagnosed with Hypertrophic Cardio Myopathy (HOCM). She requires check up every 3 months to ensure the increasing thickness on her heart will not result in heart blockage.
During 8 months old, the family noticed she was not able to sit and turn her body and seems to be weak on limb-girdle muscle. While noticed those abnormal symptoms, the family sent her to the Genetic Specialist in the hospital in KL.
On 14th June 2017, Doctor certified Caitlyn diagnosed with a rare genetic disease - Infantile Pompe Disease. Her body is deficient on acid- alpha glucosidase (GAA) which caused the glycogen pile up on every part of her body and impacted the functional of her muscle, this included the heart muscle and obstructed the growth of Caitlyn. Her life is being threatened if she did not receive the treatment immediately.
She underwent the Enzyme Replacement Therapy (ERT) on the same day. Myozyme is used to treat according to the dosage approved by US Food and Drug Administration (FDA), 20gm Myozyme is used for every 1kg of weight and currently Caitlyn?s weight is 6.5kg. One bottle of Myozyme is 50mg and cost RM2540. Based on the weight, Caitlyn is required 3 bottle of Myozyme per therapy. Thus, only the drug itself cost RM7620 and prescribe will increase according to the increasing on her weight. Enzyme Replacement Therapy prescribed bi-weekly, one month prescription will cost RM15,240.
Caitlyn is the first child of her parent, although she has been diagnosed with rare disease, her parent still loves her dearly and continuously accompany her to battle with the disease.
This is long journey to go, even though both Caitlyn?s parent ? Father ? Ooi Poh Siang (33yrs) and Mother ? Adeline Yeap Mei Ling (31yrs) work as Engineer and with total monthly income of 10k. The cost of ERT and unforeseen heart complication which required timely hospital admission and monitoring are burdening to the parents.
Currently, One Hope Charity & Welfare Berhad is assisting to raise RM250,000 for Caitlyn one year medical fees.For further enquiry, you may call One Hope Hotline 016-4192192 or 04-5059800.
The below account was for Caitlyn?s medical fees purpose. For those who wish to donate, please bank in to the below bank account which would be very much appreciated.
Acc Name:One Hope Charity & Welfare Berhad
Bank:Public Bank
Acc Number:320 142 8817
Swift Code: PBBEMYKL
Kindly attached your bank slip and email to info@onehopecharity.com.my with your name and contact number stated in order for us to issue a receipt.
About Pompe Disease:
Pompe Disease is an inherited disorder caused by the build-up of the glycogen in body?s cells.
Pomple Disease can appear on baby, kids or adult. The symptoms and severity may differ from age, however most of the time it will experience muscle weakness and respiratory disorder. Infant who diagnosed with Pompe Disease usually will be affected by showing signs of enlarged heart and other heart problem.
Pompe Disease is genetic inherited disease from the parent. If both parent found to be carrier of Pompe Disease, every of their child may have 25% of chance to diagnose on this disease.
The chances of being diagnosed with this disease is approximately 1/40,000. It was classified as a very rare disease. Patient is required to undergo ERT to prolong their live expectancy. Myozyme was used in the therapy is to dissolve the glycogen which is converted into enzyme in order for the patient to absorb and improve the body function.
For those who have family planning are encouraged to perform body check-up as well as genetic test to track and prevent genetic diseases.
