Epstein Syndrome? Yeah, I’m with you. I didn’t know what is was either until my best friend got diagnosed with it. My sister was 9. Epstein Syndrome is an autosomal dominant disorder which is caused by giant platelets, genetic mutation, nephritis, and a hearing loss.
This syndrome is so rare that it was very hard for me to find the information but what I did find was it will kill you from the inside out. Some symptoms of Epstein are minor bleeding problems, gastrointestinal bleeding, and excessive menstrual bleeding.
Abnormality in the blood is the first stage in Epstein Syndrome which is giant platelets. Platelets help with clotting of the blood and when someone has giant platelets, they have a hard time with cuts and bloody noses. The platelets are unable to create strong clots and so someone with Epstein Syndrome will bleed for long periods of time and have bruises that last longer than a normal person.
The second stage of Epstein Syndrome is a loss of hearing. It can range from a mild to a several loss. My sister started with a decrease in her hearing in her right ear and a year later, her left ear started. Most people need hearing aids at some point, my sister was 10 when she got her first set. She has a very unique kind of hearing loss called a cookie bite.
The beginning stages of nephritis is usually the last stage to occur. This stage is tested every year to detect early problems. Some problems are high blood pressure from poor kidney function, kidney infection and kidney damage. Eventually, dialysis and a kidney transfer are need to be done for people with Epstein Syndrome. If your sibling has this disorder you are usually the one who they will need a kidney from, seeing as you are the closest match.
Epstein Syndrome is so rare that only two cases have been confirmed in the Fargo-Moorhead area, one being my best friend. Hematologist Dr. Kobrinsky is the one who has been in charge of these cases for 30 years, he is the one who has to tell kids he doesn’t know when all of this will happen to them due their age and health. He is a hero to these kids, my family, and to my best friend.
- Is there more cases in other parts of the world? Where and why there?
- Can you do certain things to prevent Epstein Syndrome?
- Why is it so rare?