We thank our A-T research patients and their families for sharing their stories with us.

ROCHELLE’S LIFE EXPERIENCES – AGE 0 TO 7
Rochelle was an only child, born on July 3, 1969 and died on December 31, 2001. She weighed 5 ½ lbs at birth and no abnormalities were detected by the Gynecologist who took care of her mother during pregnancy and at birth. Rochelle was bottle fed during her infancy. Rochelle had all normal recommended shots and immunizations as proposed by her constant medical caregivers. Her mother was 36 years old at the time of the birth.

Rochelle grew and matured without unusual changes during the first year. At age 18 months, Rochelle’s mother Rose Mary noticed that Rochelle would fall and bump walls while playing. This was reported to the MD who was making routine exams of her growth. The MD called in a Neurologist who noticed that she walked with a “drunken gait”. More exams were made and no other symptoms were noticed. At age two she was mis-diagnosed as having a mild case of Cerebral Palsy which was stable and would not continue to deteriorate. We determined that Rochelle would be kept under the watchful eye of medical professionals during her entire life.

She was a likeable baby with a giggling personality who liked to play PEEK a BOO with her parents using the blanket she used to cover her head. Rochelle liked to play in her swimming pool. She made friends easily and had many cousins in her extended family. All of them liked her outgoing personality. Rougher games with the boys and girls were her favorite games. Her favorite toy was a plastic, three wheeled tricycle called “The Green Machine”. She liked to slide it into a skidding stop while smiling and laughing to anyone who would watch. Another favorite game of hers was to place her small feet into her Dad’s shoes and drag them around the house. Her pleasing personality made her a favorite for Flower Girl at many family weddings. She liked the attention and glamour. Making big smiles for photos were a natural trait. She was always happy and smiling on the many wedding photos taken by roving photographers.

Rochelle respected her Mom’s orders but many times questioned them until her Dad confirmed them. She never challenged her Dad who she always welcomed home from work to start playing games and teasing. Rochelle showed a strong trait to place all items in their proper place. A messy room annoyed her at this early age.

ROCHELLE’S LIFE EXPERIENCES 7 - 12
Rochelle’s body grew and kept pace with other children her age although she always had a slim waist. She ate well but that never added excessive weight. Her clumsy gait advanced and she gradually lost balance. Although she wanted to and tried hard, she could not learn to ride a two wheeled bicycle with training wheels. While trying without her parents present, she lost balance, fell and broke a front tooth. A local dentist made a stainless steel tooth and cemented in place for her. Later we had that tooth enameled to make it look natural.

Her mother Rose Mary got very disturbed when Rochelle fell off the bike. We set up an appointment at Mayo Clinic where she was diagnosed as having AT Syndrome based on her drunken gait and blood shot eyes. We were also advised that the Syndrome was progressive and no cure was available. The Medical Community was not trained to diagnose or treat the special needs of an AT Patient. Some Professionals have attempted and Physical Therapists try to reestablish lost muscle control. These efforts are fruitless and frequently damage the life relationships of the AT Patient and the entire family. False expectations result in future failures due to the progressive deterioration of brain cells causing parents and the patient to become frustrated and eventually dismiss all Medical attention when the patient’s body functions require treatment for weak lung performance and low oxygen levels. The Clinic Doctors recommended that we register her with Dr. Michael Swift who was the only research source for AT Syndrome at that time. We found that only 250 AT patients were identified and an equal number of mis-diagnosed patients were estimated to exist in the USA.

Rochelle attended school with others her age. Her first schooling started with a Pre-School at age 3 which developed her early social skills. At age 5 or 6 she was enrolled in Grade School; her grades were good to excellent and she got along exceptionally well with other children. She received Holy Communion at our Catholic Church when she was in third grade. All of her birthdays and the Holy Communion day was celebrated with large family parties. The related children also had family parties where they played and respected themselves at all get-togethers, which were expanded to Sunday afternoons. Rochelle also went to summer camps with her local schools during her entire school life.

Rochelle lost her ability to walk at about age 12 and became a full time wheel chair patient. That was a blow to her personality. We bought her a fancy red wheel chair, which was different and better than the average one because it was more acceptable to her.

ROCHELLE’S LIFE EXPERIENCES 12 - 18
The early friends and relationships changed due to many moves away from the extended family. Friends became harder to make and keep, but Rochelle did well at all social activities during her teen-age years. She was voted a member of the graduating class Homecoming Queen’s Court. In spite of her purple lightweight wheel chair, she was a very pretty girl especially when dressed up in her blue or pink floor length gowns.

It was during this teen-age period, before she graduated from High School, that she became aware of her handicap and experienced rejections by some new acquaintances. The rejections that hurt her most were from younger children who she loved to talk to. Some teenagers also avoided a close relationship with her. During this period, Rochelle developed a strong tie to her immediate family with her Mother and Dad having the strongest ties. An example is her strong and sometimes over confident belief that Mom and Dad could do anything to fix broken objects and relieve any routine pain from an illness she may develop.

Rochelle’s ankles started to turn her feet inward her wrists twisted her hands into a downward position when at rest. Her ability to grasp small items and table utensils deteriorated, so we scheduled a second follow up on site review at Mayo Clinic. We were disappointed with the results because no new Medical break-through had been found since our last visit. The Therapists at Mayo tried and furnished special eating utensils with oversize heavy handles and plates with up-turned edges to make eating easier without spilling. New drinking cups were also provided, but they looked like the popular baby cups and Rochelle was reluctant to use them. She struggled with the standard adult cups and plastic drinking glasses.

ROCHELLE’S LIFE EXPERIENCES 18 - 33
Rochelle’s complete trust in her immediate family continued to develop a stronger tie to her parents and relatives. It made her a very special person who contributed greatly to the happiness and devotion to all individuals who touched her life experiences and joys which outpaced the sadness.

Tori turned 19 on April 23, 2006. She was diagnosed with AT in 1993 at the age of 6. Tori finished High School this past June. She plans to attend a post-graduate program that includes working a half day and taking courses at a local community college. She is interested in film production and hopes to become a movie critic. Her movie collection includes B horror movies, Disney classics and "chick flicks". She also enjoys writing short stories. Tori is very active. She participated in a wheelchair ballet troupe, an ice skating program for the blind and handicapped, and a theater group for able bodied and handicapped adults. She has traveled all over the United States including, NYC, Washington D.C., Tennessee, Virginia, Florida, Ohio and Hawaii and she has planned a trip to Alaska for next summer. She enjoys camping with her mother and playing with her two cats, Coal and Cinders. Tori plans to move into an assisted living situation in the spring of 2007.