ABOUT NAOMI
Naomi is a 13 year old girl with Rett Syndrome. She enjoys many activities like bowling attending after school art classes just to name a few. Rett syndrome robs girls of a normal life. Currently Naomi is is 100% dependent on her parents. She can not feed, dress or use the toilet on her own and has little to no speech.
OUR GOAL: A TOBII FOR NAOMI
In March of 2012 she got sick very sick, and this is when GAM first was introduced to her. Because she cannot communicate, she couldn’t tell us what was wrong. Her parents took her to the local hospital and found that the ear infection was causing her liver and kidneys to shut down. They immediately sent her to Children’s Hospital Boston were the ER crew worked on her for over 20 hours before she went into shutdown mode (like a coma) for the next 48 days. During that time she developed blood clots on the brain and it was discovered that the infection spread to the brain but they couldn’t operate because she was on blood thinners. The doctors took her off the blood thinners to let her levels come down to a safe level and then she was operated on 8 days later. After her surgery, she was sent to Spaulding Rehab where only 22 hours past before the infection came back. The lack of communication really hinders her ability to tell her parents and the doctors how she is feeling. This is where they learned about the Tobii communication device and how we can help improve Naomi’s quality of life and help her family by raising funds in support of that goal.
ABOUT THE TOBII:
The Tobii speech generating device enables effective communication in all forms – from voice output, environmental control, computer access to long distance communication. Rugged design, unparalleled power management, support for touch to gaze interaction and more make the I-Series ideal for everyday use. The coolest part is it has eye tracking technology!!!!
ABOUT RETT’S SYNDROME (from rettsyndrome.org):
Rett syndrome is a unique postnatal neurological disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys. It has been most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. It is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different “hot spots.”
Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births. It causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion.
Rett syndrome symptoms appear after an early period of apparently normal or near normal development until six to eighteen months of life, when there is a slowing down or stagnation of skills. A period of regression then follows when she loses communication skills and purposeful use of her hands. Soon, stereotyped hand movements such as handwashing, gait disturbances, and slowing of the normal rate of head growth become apparent. Other problems may include seizures and disorganized breathing patterns while she is awake. In the early years, there may be a period of isolation or withdrawal when she is irritable and cries inconsolably. Over time, motor problems may increase, but in general, irritability lessens and eye contact and communication improve.
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