Two “famous” people in the Rett Syndrome community are my daughter, Ashley, and the late Henry Engel. On August 15, 2019, Judy, Ashley, and I
joined Richard, Mary, and Henry for an afternoon visit in Houston. The
Engels were in Houston for research involving Henry.
There is a bond between parents of children with Rett Syndrome. This
meeting, however, had another element to it. It was a special celebration of two individuals with the dubious honor of being among the most
well-known people in the world with Rett Syndrome.
Judy and Richard Engel with Ashley
Clifford, with Mary, Richard, and Henry Engel
Judy, Mary, and Richard with Henry and Ashley
Ashley
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.
Ashley with Dr. Zoghbi at the 2000 Press Conference
Ashley’s picture appears in medical journals, and her pictures are often shown at Rett Syndrome research conferences. Ashley and Dr. Zoghbi still share a special relationship.
Dr. Huda Zoghbi and Ashley at the Marriott hotel lobby in Houston
Henry
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, Mary, and Henry Engel on NBC news
Dr. Zoghbi is the head of the Jan and Dan Duncan Neurological Research Institute (NRI) in the Texas Medical Center, which hosts a large multi-disciplinary faculty engaged in basic and applied research on neurological disorders. The Engels traveled to Houston periodically for research purposes. With tears for Richard and Mary as I write, Henry passed away on August 9, 2022.
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
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.
Ashley skillfully using her hands before the Rett Syndrome regression.
Rett Syndrome became known in the U.S. in October 1983 when the Annals of Neurology contained an article by the Swedish researcher Bengt Hagberg, MD, Jean Aicardi MD, Karin Dias MD, and Ovidio Ramos, MD titled “A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett’s Syndrome: Report of 35 cases.” Dr. Hagberg’s team named the disorder after Dr. Andreas Rett, who ran a clinic in Germany for special needs children. In 1966, Dr. Rett wrote an article in a German language practitioner journal indicating that he had a group of 22 girls with an unidentified disorder. One of their traits was loss of hand use and a constant wringing of their hands.
Dr. Merlene McAleavy, Ashley’s general physician, read Dr. Hagberg’s article when it first appeared. She met with Judy to discuss the article, and they agreed that Ashley had Rett Syndrome. Dr. McAleavy arranged for doctors at Texas Children’s Hospital to see Ashley. Before the meeting occurred, neurologist Dr. Alan Percy, who had just returned from a meeting in Japan about Rett Syndrome, heard there was a girl who exhibited Rett Syndrome traits. He called our house and asked to see Ashley. When he observed her, he said that in his opinion she has Rett Syndrome.
When we arrived at the meeting in the Texas Medical Center that Dr. McAleavy helped arrange, the lead geneticist asked if an intern could join the meeting, resulting in Dr. Huda Zoghbi seeing Ashley for the first time. Dr. Zoghbi left the meeting and searched the files at Texas Children’s Hospital for descriptions of others like Ashley, and finding 30 of them, became devoted to unraveling the mystery of Rett Syndrome. About 16 years later she discovered the cause.
The search for a cure
A group of women called the Blue Bird Circle raises funds for neurological research for children’s care. In 1985 they established the nation’s first Rett Center in Texas Children’s Hospital. Dr. Percy became its intial director, followed by Dr. Daniel Glaze, and now Dr. Bernhard Suter. Clinical trials are in progress, and one drug has been approved for use, which reportedly helps some girls with aspects of the disorder.
Henry’s cells are being studied in search of information that will further help those with Rett Syndrome. Dr. Huda Zoghbi coveys that Henry’s case is valuable to researchers because it is so rare. Sometimes rarity provides the most valuable information. I dedicate this post to Henry Thomas Engel, his struggles in life, and his continuing contributions.
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