Rare Disease and Personal Identity: Why This Hemophilia Patient Isn’t Interested in a Cure

According to a story from The Atlantic, the continual development of gene editing technologies like CRISPR have the potential to cure a substantial portion of rare diseases that are linked to genetic anomalies and mutations. An example of such a disease that could be on the chopping block is hemophilia. However, Jeff Johnson, age 40, who was born with the disorder, says he is not interested in getting cured. 

About Hemophilia

Hemophilia is a genetic disorder which affects the ability of the blood to form clots, a process that is vital for stopping bleeding after a wound is sustained. The severity of symptoms can vary widely. The disorder is caused by a mutation found on the X chromosome. Symptoms include bleeding for a long time after an injury, risk of bleeding in the brain and joints, and easy bruising. Bleeding in the joints can cause permanent damage and brain bleeding can lead to headaches, decreased consciousness, and seizures. There are multiple types of hemophilia, with the most common types being type A and type B, which are distinguished by having deficiencies in different clotting factors. Treatment involves replacing the missing clotting factor. Drugs that thin the blood should be avoided. To learn more about hemophilia, click here.

Jeff’s Story

For Jeff, hemophilia has always been a part of his life. He has been closely involved in the hemophilia patient community, and he even went to a summer camp for hemophilia kids when he was growing up. Jeff says that he is skeptical about the possibility of the new technology offering a cure since he has always heard about new drugs that proponents claimed could cure but then failed to deliver. Not to mention, he simply doesn’t want it.

His career is also hemophilia oriented, as he works for a company that is involved in dispensing hemophilia treatments. Since he doesn’t want a cure, it may be easy to think that Jeff must have a mild case, but this is not necessarily true. He has dealt with arthritis in his knees since his 20s, and internal bleeding has also damaged his spine, so he has had to face serious complications.

Jeff is an example of someone who has embraced his disease as part of who he is; it is the defining factor of his life. Most of his relationships and even his career are directly related to it. While he doesn’t speak for the entire hemophilia community, it makes sense why someone would not want a central part of their identity taken from them.

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