Ashley was the first person in Texas to be diagnosed with Rett Syndrome, and one of the first in the nation, after Rett Syndrome became known in the U.S.  Ashley was examined at Houston’s Texas Children’s Hospital by a small group of doctors that included Dr. Huda Zoghbi, who was then an intern at Baylor College of Medicine studying advanced genetics.  Ashley’s “fame” stems from Dr. Zoghbi crediting Ashley with inspiring her at that meeting to search for the cause of Rett Syndrome.

Sixteen years later, in 2000, Dr. Zoghbi called and asked if my family could be at Baylor College of Medicine at a particular time and date. I did not ask why.  I knew in my heart that she had found the cause.  Ashley was Dr. Zoghbi ‘s special guest at a press conference at which she announced her team had found that mutations in the MECP2 gene cause Rett Syndrome.

Dr. Zoghbi continues to search for a cure for Rett Syndrome, and she shares a special bond with the Engel family. Henry Engel is well known among researchers as having a one-of-a kind genetic mutation that causes Rett Syndrome.  He is also one of a rare group of long-lived males with Rett Syndrome, for the disorder is typically quickly fatal for boys. Researchers are very interested in Henry’s genetic make-up, and his cells may lead to a better understanding of Rett Syndrome and its possible cure.

Once Henry came to the attention of Dr. Zoghbi’s research team, he became a subject of focused analysis.   Henry also became quickly nationally well known, because his father, Richard, is the chief foreign correspondent for NBC news.  NBC featured the Engel family challenges with Rett Syndrome on multiple national news broadcasts.  Richard and Mary helped bring significant national attention to Rett Syndrome.

Richard Engel Announces Death Of 6-Year-Old Son Henry – Bing video

Henry’s passing saddened researchers, and many others.  Dr. Zoghbi dedicated a balcony within the NRI in Henry’s honor. The Henry Engel Memorial Balcony will forever be an inspiration for NRI researchers and a perpetual honor to Henry and his parents, Richard and Mary, for their contributions toward a cure for Rett Syndrome.

Rett Syndrome is a developmental disorder caused by mutations in the MECP2 gene on the X chromosome.  The MECP2 gene produces a protein that is instrumental in guiding the production of some other proteins during child development. With a mutation, MECP2 is sometimes compared with a symphony conductor misdirecting the musicians.

Girls with Rett Syndrome develop normally for 18 months, at which time they lose purposeful hand use and any speaking ability, develop autistic traits, encounter breathing and eating problems, progress shortly into seizures and, in Ashley’s case within a few years, severe scoliosis. Some never walk. Girls can survive because they have two X chromosomes, and activation of parts of the second X chromosome can compensate somewhat for the damaged one.  Boys have an X and a Y chromosome, and the MECP2 mutation on their only X chromosome is usually quickly fatal.