Young St. Louis man, 1 of only 7 people worldwide with rare dise - KMOV.com

Young St. Louis man, 1 of only 7 people worldwide with rare disease, inspires through positivity

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At age 18, Chase Cofer was diagnosed as the first person in the United States, only the 7th person in the world, with a rare genetic mutation called S1P Lyase. (Credit: YouTube/Chase Cofer) At age 18, Chase Cofer was diagnosed as the first person in the United States, only the 7th person in the world, with a rare genetic mutation called S1P Lyase. (Credit: YouTube/Chase Cofer)
ST. LOUIS, Mo. (KMOV.com) -

Chase Cofer calls himself one in a billion and if you have the pleasure to met him in person you’d understand why. He’s charismatic, funny and endlessly optimistic about life.

Growing in Bellefontaine Neighbors, Chase’s ability to move freely began fading at the age of 9. For nearly 10 years Chase suffered from a weakening immune system, locked up joints, extreme pain without a diagnosis from doctors.

"I just wanted to know what I had," said Cofer. 

Dr. Megan Cooper with Washington University at St. Louis Children’s Hospital was the first doctor to pin point what was causing Chase pain. At age 18, Chase was diagnosed as the first person in the United States, only the 7th person in the world, with a rare genetic mutation called S1P Lyase.

S1P Lyase causes Chase's joints to lock up making him wheelchair dependent and causes his immune system to be very weak.

While having this disease Chase has two stomach infections his weak immune system could not handle. Within 11 months of the second stomach infection, Chase's kidneys failed and he had to go on dialysis, getting his blood cleaned 3 times a week at Barnes-Jewish Hospital. Chase is now waiting on the candidate donor list to be matched with a kidney. Barnes-Jewish Hospital says the wait time on the candidate list is typically 3-5 years, but Chase could get a kidney immediately if he had a living donor, which is what he is hoping for. 

Now that this disease has been diagnosed, Chase wants to help others who may get this same diagnosis, and teach them how to live their lives without set backs with this disease. Chase taught himself how to play the guitar and posts his music on YouTube. In order to play with locked joints, Chase has to point the guitar upwards. 

If you are interested in becoming a living donor or to learn if you match with Chase, click here.

Chase is O+ blood type. 

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