Essay On Hypophosphatasia

2 little girls were born into loving families with no hope that they would survive past the age of one. They had a rare genetic disease called hypophosphatasia. The severe form afflicts only 1 in every 100,000 newborns. HPP is a rare, genetic bone disease defined by a lack of development in the skeletal anatomy. The disease is recognized by soft or unformed bones. The symptoms of Hypophosphatasia range from stillbirth to pathologic fractures developing in late adulthood. In babies , the condition is life-threatening and at the end of the day , these girls parents just want to see their children grow up no matter what the case may be , they will do anything to be able to see that. Including paying about $150,000 per year for treatment. Although there is no approved medical treatment for HPP, there is
Asfotase alfa enzyme replacement therapy has substantial and sustained efficacy with a good safety profile for children suffering from HPP. Asfotase alfa is an important advance for many patients with HPP, their families, and the medical community because it can effectively replace in the skeleton the deficient enzyme called tissue non-specific alkaline phosphatase,” said Michael Whyte, M.D.,“Without treatment, many newborns and infants with HPP fail to develop a normal rib cage and die from not being able to breathe, and young children with HPP can suffer from muscle weakness. Treatment with asfotase alfa, often markedly improved overall health. In young children with HPP, now treated for five years with asfotase alfa, significant corrections of the skeletal complications were documented, and all had better mobility and function. In the future , research will be done to see if this drug can completely reverse the condition if started as soon as being diagnosed. You can’t put a price on saving a life before it even got a chance to