Honoring the Arab American Doctor Who Found the Cause of a Rare Disease, Rett Syndrome
BY: Haya Bacharouch/Ambassador Blogger
On International Women’s Day, I remembered a rare disorder. I remembered my sister and all the girls who have been diagnosed with Rett Syndrome, a rare neurological degenerative disorder that affects one out of every 10,000 female births worldwide.
Rett Syndrome is a devastating disorder. I lived with my sister for 14 years, while she suffered from Rett Syndrome’s degenerative symptoms and nature. She was born healthy, but at 18 months, we noticed that something was just not right. She was unable to say a single word, nor was she receptive to her name or any words or actions towards her. At 18 months, she began to lose her grip of holding objects. Because of this, she was never able to feed herself. My sister always used to walk, but by the age of 11, she began to lose that ability. She began having rampant seizures until her neurology doctor gave her medication to calm her down. Slowly and gradually, yet devastatingly, she began to develop scoliosis. Her back began to bend as if it was the shape of the letter ‘S’. Her neck began to tilt and she became stiffer by the day. In February of 2015, my sister passed away at the young age of 14.
There is such little focus on rare syndromes, but one Arab American doctor made it her mission to research this rare syndrome and discover groundbreaking information about its cause.
Dr. Huda Zoghbi is a Lebanese American medical doctor that is internationally renowned for her research that focuses on genetic and cell biology as an avenue to learn more about neurodegenerative and neurodevelopmental diseases.
Dr. Zoghbi was born in Beirut, Lebanon and pursued a bachelor’s degree in Biological Sciences. As she began her first year at American University of Beirut Medical School, the Lebanese Civil War erupted. Out of concern for her safety, Dr. Zoghbi’s mother sent her to the United States to live with her sister in Texas. The Lebanese Civil War raged on and Dr. Zoghbi could not return to her studies. She decided to apply to Meharry Medical College in Tennessee, where she earned her M.D in 1979.
Initially, Dr. Zoghbi was a pediatric neurologist; however, after an encounter with a young girl with Rett Syndrome, she drew her attention from neurology clinical practice to research that focuses on genetics. Although Rett Syndrome was discovered in 1983, it was not until Dr. Zoghbi’s 16-year research that the world would know about its cause.
Dr. Zoghbi discovered that Rett Syndrome is caused by a genetic mutation in the MECP2 gene. Mutations within that gene are seen in children who are diagnosed with schizophrenia, autism, and learning disabilities.
Without knowledge of its cause, I would have always pondered about why it happened. Without knowledge of its cause, we would not be able to further continue research to prevent and cure such a devastating and insufferable disorder.
Without Dr. Zoghbi’s efforts, Rett Syndrome, a rare disorder that affects girls neurologically, would not have been brought to light. Dr. Zoghbi’s accomplishments have had a direct impact on my life and the lives of many children worldwide. During Women’s History Month, Dr. Zoghbi is celebrated for her dedication to medical research and helping those who need her most.
