As originally reported in BioSpectrum; the World Health Organization (WHO) has just approved the disease code for CDKL5 Deficiency Disorder (CDD), adding it to the list used worldwide for the medical classification of diseases. By being officially listed as a rare disease, the patients can receive more government aid for relevant research and healthcare subsidies and be used by insurers to price treatments.
CDKL5 Deficiency Disorder (CDD)
CDD is an extremely rare genetic disorder that causes a range of severe neurological impairments. The disease results from the deficit of the functioning of the CDKL5 gene, that creates symptoms such as frequent seizures, lack of motor skills, the inability to reach milestones including walking, talking, damaged vision and speech, and profound neurodevelopmental delay. The symptoms are noticable upon birth, and progresses to the worst stages of epilepsy.
Disease Code Opens Doors
The ‘disease code’ is compromised of segments of code tailored to the disease, such as E11 indicating type 2 diabetes. These codes are important because they are then used to determine healthcare costs. The WHO estimates that 70% of healthcare costs worldwide are determined using these codes, such as by governments and insurance companies that decide on the budgets and which drugs and included as well as the reimbursements if they allocate money for the disease. However, many rare diseases have not garnered enough research to receive their own disease code, and in its absence, these patients and disease communities can be unable to receive funding or research. The code is vital to being accepted into standard processes of money and resource allocation within the medical world.
These labels are important because orphan drugs often rely on government tax grants, public support, and subsidized funding due to their costly creation process. Rare disease drugs are incredibly rare themselves, with only 5% of patients having any treatment options. The research that is ongoing is still very sensitive to any fluctuations in cost due to the already extremely high cost per patient. The drugs that exist are often reliant on these subsidies and grants that make the drugs just barely affordable.
——————————–
Recognition is the first step towards addressing the needs of the disease. By joining the databases and scientific records, CDKL5 will begin to gather a history, a story, and perhaps one day, an answer.
What are your thoughts on rare disease code designation? Share your stories, thoughts, and hopes with the Patient Worthy community!
