Diagnosis of 5 RD Reimbursed by TFRD

Diagnosis of Five Rare Diseases Reimbursed by Taiwan Foundation for Rare Disorders

For many rare disease patients, the difficulty in obtaining the correct diagnosis is the first dramatic hurdle for them and may take years or even decades to overcome. In order to help patients to receive correct diagnosis, for the past 8 year, TFRD has been 
cooperating with Bureau of Health Promotion, Department of Health, on helping sending specimen of suspected cases to foreign laboratories for correct diagnosis. So far, this service has helped 312 cases and TFRD has subsidized $315 million NT dollars. At 
the same time, domestic laboratories are becoming capable to make correct diagnosis on certain rare diseases.  Correct diagnosis will be much economical and time-saving now. 

Under the testimony of Dr. Cheng-Tai Xue, an one-year cooperative memorandum was signed by TFRD and ChangHua Christian Hospital at the opening ceremony of rare disease center of ChangHua Christian Hospital on March 21, 2009. ChangHua 
Christian Hospital will offer tests for Cystic Fibrosis (CFTR gene), Cockayne Syndrome(CSA gene, CSB gene), Beckwith-Wiedemann Syndrome (H19 gene, LIT1 gene), Incontinentia Pigmenti (NEMO gene) and Niemann-Pick Disease C type (NPC1 gene) .  The examination cost is NT$6,000-15,000.  TFRD will subsidize 50% of the testing fee in order to alleviate patients’ burden while seeking correct diagnosis. This cooperation with ChangHua Christian Hospital is a milestone in networking domestic medical centers to manage rare diseases. ChangHua Christian Hospital indicates that in the past, specimen had to be sent to laboratories abroad. Now, ChangHua Christian Hospital’s rare disease center is capable of making correct diagnosis. However, the examination fee is still high and with the support of Taiwan Foundation for Rare Disorders, they can serve more patients in the future. 

Currently, there have been 10 genetic counselling centers established in various medical centers and teaching hospitals in Taiwan. Those 10 genetic counseling centers all have passed the evaluation by Bureau of Health Promotion to assure their quality. In the future, TFRD will keep on building professional networks with domestic medical centers or specialized centers to facilitate patients’ access to correct diagnosis.