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His ordeal (which began at the age of two months) ended at the age of 33 when doctors discovered the cause of digestive disorder: a rare genetic mutation that caused a disorder in his immune system.
A man from Boston has had intermittent diarrhea since he was two months old. Despite numerous examinations, doctors have never been able to find the cause of this almost permanent digestive disorder. His existence was therefore marked by chronic diarrhea which earned him numerous hospitalizations and heavy treatments.
His immune system was attacking his own organs and tissues
After several decades of diagnostic wandering, doctors eventually find the cause of this evil through blood tests and other examinations to explore the digestive tract. The man was then 33 years old. This chronic diarrhea would be the consequence of a disorder of the immune system triggered by a rare mutation. This immune disorder is called autoimmune polyendocrinopathy. The mutation was located on the FOXP3 gene which regulates a type of white blood cell called a T cell. In this gentleman, this genetic mutation resulted in IPEX syndrome, a syndrome that usually develops within the first days or weeks of life and mainly affects boys. IPEX syndrome can manifest as skin involvement, type 1 diabetes, diarrhea, vomiting or gastritis.
To fight against this chronic diarrhea, the 30-year-old had to follow strict dietary rules all his life and take numerous drugs aimed at inhibiting his immune system. These treatments have unfortunately made him more vulnerable to certain illnesses such as pneumonia and upper respiratory tract infections.
Saved with a bone marrow transplant
When the doctors (finally!) discovered the cause of this chronic diarrhea, the patient was suffering from high blood pressure, rosacea and eczema (a sign of an overstimulated immune system). To put an end to his suffering, they decide to give him a bone marrow transplant. A first transplant was performed with the bone marrow of the young man’s brother. But it didn’t work. Doctors attempt the operation a second time with bone marrow from a compatible donor. This time, the transplant worked well and stopped the diarrhea eight months later.