By Clinton Martin
The Amish have no prohibitions about seeking modern medical care, and local healthcare facilities in Lancaster County are very accustomed to welcoming Amish patients. In fact, some clinics locally serve almost exclusively Plain Community members, with culturally tailored care. Therefore, when you see an Amish person traveling a great distance for healthcare, you can figure their case is dramatic and serious, as most things can be handled locally.
Thus was the case with an Amish young woman suffering from fatigue, severe headache, and weakness on one side of her body. Her family ended up taking her to CHOP (Children’s Hospital of Philadelphia) which is considered one of the top children’s hospitals in the world. Doctors there were able to tell that her problems stemmed from brain inflammation. But the usual reasons for this inflammation didn’t add up for her. She did not have an infection and didn’t respond to standard steroid treatment. So, what caused the swelling? As they continued to treat her to try to find out the “why” the swelling became so bad, the doctors had to remove part of her skull to ease the pressure on her brain. She was at risk of debilitating brain damage.
They sequenced her DNA, which uncovered an extremely rare genetic disorder which is responsible for unexplained shutdowns of a person’s immune system. Called “Complement Factor I Deficiency” it is only found in less than one per million people worldwide. CHOP reached out to the Clinic for Special Children, which is located here in Lancaster County. It is a clinic dedicated to studying and treating genetic disorders, which are rare in the population at large, but not so rare among Plain Communities, such as Amish, Mennonite, and similar groups.
What causes certain genetic disorders to be more common among the Amish than the general population? It is an example of “Founders Effect.” You have this phenomenon when a large population traces its roots back to a small number of individuals, with isolation from the population around them. In other words, we have an Amish population in North America approaching half a million individuals. They essentially all trace their family trees back to a few hundred settlers that came here in the 1700’s. The genetic makeup of these “founders” carries through in bigger ways to future populations than if the Amish had “mixed” more with outside populations.
The Clinic began testing Amish patients for Complement Factor I Deficiency, and they found that among the Old Order Amish, the gene mutation was 4,500 times more likely to appear compared to the general population. This revelation “solved” the mystery of the girl at CHOP. Steroids and other treatments aren’t effective for this disorder. Instead, a medication called Eculizumab was administered, which caused the girl to be revived and restored to full health in less than three days.
Now, she is living a full and “normal” life among the Amish, and in fact is teaching at one of the community’s parochial one-room schools.