MIDDLETOWN, DE – Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. A classification system of different types of OI is commonly used to help describe how severely a person with OI is affected. For example, a person may have just a few or as many as several hundred fractures in a lifetime.
While the number of people affected with OI in the United States is unknown, the best estimate suggests a minimum of 20,000 and possibly as many as 50,000.
OI is caused by genetic defects that affect the body’s ability to make strong bones. In dominant (classical) OI, a person has too little type I collagen or a poor quality of type I collagen due to a mutation in one of the type I collagen genes. Collagen is the major protein of the body’s connective tissue. It is part of the framework that bones are formed around. In recessive OI, mutations in other genes interfere with collagen production. The result in all cases is fragile bones that break easily.
When a child has recessive OI, there is a 25 percent chance per pregnancy that the parents will have another child with OI. Siblings of a person with a recessive form of OI have a 50 percent chance of being a carrier of the recessive gene. DNA testing is available to help parents and siblings determine if they are carriers of this type of gene mutation.
Imagine a child having to go through his young life afflicted with this ailment. This is the sad plight of Kevin. A young boy should be able to run and play outdoors with his friends. As he grows older he should be able to play sports, excel and maybe even join their varsity. Sadly, these things are not meant to be. Imagine the heartbreak of his parents on how these simple things are deprived from their child. Imagine their pain knowing full well that there is NO CURE and the chances of their son leading a normal life are practically slim to none. All is not lost though, true, there is no remedy but there is treatment.
Kevin has gone through surgeries and countless procedures and medication for a young boy that a normal person would not even have to in a lifetime. His loved ones are doing their best to support him however it has of course taken it’s toll not only on their family life but their finances as well. If only NOVARTIS Pharmaceuticals (NYSE: NVS), the leading manufacturer of Aredia, the leading drug treatment for the disease, would just jump in and give them a bailout, but such is not the case.
This is where you come in. Help support Kevin, he has a GoFundMe page https://www.gofundme.com/k3vin-g where you can show some love and support. This boy has held strong all this time, let’s give him some love.
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