A rare genetic skeletal disorder, Spondyloepiphyseal dysplasia, Kondo-Fu type (SEDKF) is caused by mutations (changes) in a gene named membrane-bound transcription factor peptidase, site 1 (MBTPS1). MBTPS1 contains the information for site-1 protease (S1P), which is one of the main regulators of cell activity. Those affected have low birth weight and delayed growth milestones.
The specific symptoms and severity of SEDKF can vary from one person to another, depending on where the change happens in the MBTPS1 gene. Some common manifestations are delayed growth, short stature, the curvature of the spine, dysmorphic face, early onset of cataracts, bilateral inguinal hernia, and gastrointestinal problems.
It is inherited as an autosomal recessive genetic disorder, meaning that affected individuals, male or female, receive one altered MBTPS1 gene from the mother and another from the father.
The cost of medical care can be very expensive in the U.S. It is estimated that the total costs of healthcare in America will reach $5.7 trillion by 2026. One reason why the cost is so high is that there are not enough doctors to serve the population and there are too many people who cannot afford it.
Several options are available for those who cannot afford to pay medical bills. One of them is Patient Assistance Programs, which reduce medication costs. You can afford medicines at discounted/low or no cost. These programs are managed by pharmaceutical companies, healthcare industries, and foundations as a solution to the rising cost. Enrollment is free if you qualify.
The Patient Assistance Program is also an option for those who are uninsured or have insurance but don't want to use it because they need to pay the monthly premiums.
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