Age: 35 years old
Parents:  Kathy McMillan

I am the mother of Maggie, a 35-year-old female with Rett Syndrome. My husband and I have gone from having a daughter for 10 years with a severe but undiagnosed condition, to having one of first 750 or so diagnosed RTT daughters worldwide.

Maggie was our first child, born in 1974, years before RTT was known in the professional community, when my husband was in the service. Maggie was born spontaneously three weeks past term after an uncomplicated pregnancy. She weighed 7 pounds and 9 ounces. Her Apgar score of 7 owed to skin conditions and oxygen required at birth. She sat at four months, could wind up toys by seven months, said her first word at about 12 months, and had a vocabulary of about 16 words and showed great interest in books at 16 months. But at about 12 months, she started having tantrums. By 16 months, she was losing instead of gaining words, throwing toys or using them as weapons, and putting everything she picked up, including dirt, into her mouth. At 20 months of age, when a younger sister was born, Maggie was saying only “mama” and “papa.” Her pediatrician told me not to worry, that Maggie was showing “normal regression.” Maggie appeared to be extremely jealous of her sister, and pushed, hit, and scratched. She not only lost the ability to wind up toys, but by 24 months could not even pick one up. Growth retardation became prominent and persistent. Behavior issues also became a problem. Physicians proposed various diagnoses, including schizophrenia, autism, mental retardation, childhood aphasia, and hyperactivity. Because Maggie was small and did not gain weight, malnutrition was suggested even though she ate a lot. . At around eight years she began to have frequent tonic-clonic seizures. Even on medication, she had some 20 seizures daily. Tests indicated multiple allergies. Given interest at the time in the Feingold and other diets for disorders such as hyperactivity, one should not be surprised at the hypothesis that the problems owed to allergies, but dietary manipulation had few effects. At about age nine, she began again showing aggressive behaviors to herself and others. Once, she slapped her face so hard that she deformed her jaw and began to cry hysterically. I had been reading about Rett Syndrome and described it to some physicians. For tunately, her neurologist had recently attended a conference on RTT and diagnosed her correctly. When Maggie was put on Depakote, which had been found effective with RTT girls, both seizures and aggressive behavior diminished, and she became again a “happy go lucky child.”

Maggie showed virtually all of the current diagnostic criteria for RTT and went through the four developmental stages. Her cognitive development became largely arrested. She developed classic RTT hand stereotypies, mainly hand mouthing, to the extent that she developed infections on her hands. Although she maintained walking, her body movements became jerky and she showed gait apraxia. She had surgery for scoliosis at age 15 years. Bruxism, air-swallowing, and breath-holding were common. Growth retardation continued. Compared to her earlier Jekyll and Hyde behavior, Maggie’s temperament became calmer in the fourth stage. By the time she was in her late teens, she was easy going most of the time, had fewer seizures, and regained some lost skills, but was still totally dependent on others for her basic needs.

As she approached the end of her last year in public school, we began to worry about her long-term future in light of her need for care and our own ages. Again considering residential care, we listed its advantages and disadvantages. We could provide Maggie with love and support, but the residential home provided many services that we could not: around the clock care; frequent bed checks at night; full-time nursing; physical, speech, occupational, and aquatic therapy; and a degree of both independence and inclusion.. At age 19, Maggie moved into her own room in the residential home called Carobell.. Timing was very important—She was used to a regular schedule and to being away from family, and if she became accustomed to living at home full-time, adjustment to the residential home would have been more difficult. The home provides large number of activities, including fishing, dances, movies, parades, and even overnight trips, which made Maggie’s transition much easier—E ach day was an adventure. Her favorite activity was going out to eat, as indicated by a 17-pound weight gain her first year! Unfortunately, she later developed a serious problem swallowing food, as if she could not remember what to do once it reached her mouth. Her weight began to plummet, and a gastric-tube was implanted in 1998.

Maggie graduated from the on-site school and now attends the Adult Day Program. Each client is assessed and jobs are created to meet their individual needs and abilities. Maggie helps make dog and cat biscuits that are sold to local pet stores. She can not roll out dough, but sprinkles flour on the bread board and crushes cans in a specially-designed crusher. The program also has pet therapy, computer learning, horticulture, and aquatics.

As of 2009, Maggie can see and hear, but not talk. Unlike many RTT adults, she can walk, but with gait problems. Her hands are often clasped at her mouth, leading to balance problems. She drools, leaving her hands wet and subject to fungal infections; gulps air and has H-pyloris, both leading to gastric distress; has Gerd, eating and swallowing problems; and occasional tonic-clonic seizures, only partially controlled by medication. Owing to falls from seizures, she now wears a staff -designed vest to reduce injury. She appears to communicate through eye gaze and finger pointing, but with long response latency. Generally loving and appreciative, she occasionally lashes out, apparently to communicate pain from gastric distress. Part of her distress was caused from her Gall Bladder which was not functioning properly. It is scheduled to be removed 10/20/09.

Maggie gets so much pleasure out of the simplest things. She taught me how to appreciate the uniqueness of our world. I loved to hear her squeal with delight when we drive up to Mickey D’s to get her favorite snack, French fries! Maggie is a great listener too. She loves to be read to. Her favorite pass time is to read chapter books, usually with young ladies like “The American Girl Series” and animals stories like “Because of Winn Dixie”. When my other daughters felt it was not “cool” to hang around their mother, Maggie was always there smiling. She even enjoys listening to me sing my crazy songs. They always seemed to make her giggle. Maggie and I have a very special bond and we have become inseparable. I have always been her primary care provider. And thanks to Carobell, I haven't lost that position, I just have LOTS of helpers now! When at home she depends on me for many things and I depend on her for unconditional love. I always tell her she is my guardi an angel. She nurtures my heart!

Some people may invision our experience with Rett Syndrome with sorrowful eyes; but instead.I view it as a unique adventure. God has led me down a much different road in life. But because of this detour I have grown to appreciate and love the most amazing and incredible woman/child! Because of her courage and day to day bravery, she gives me strength!

So much has happened in the last 25 years with RTT. From just being recognized in the United States as a Syndrome, to finding the genetic marker (MecP2), and now so close to trial treatments. This is promising for not only the newly diagnosed, but also for the older girls as well. Current research shows Rett Syndrome could be the first reversible brain disorder. With more funding the scientists will make this happen.

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Maggie's Coffee Cup!




Donations to Date: $0

	Caramel Frappacino
	Chocolate Milkshake
	Coffee with Creme and Sugar
	Green Tea
	Iced Tea with Lemon
	Strawberry Smoothie
	Vanilla Latte