Amanda and Kevin Black
Saturday, July 23, 2011
Monday, July 18, 2011
Understanding Rett Syndrome: A Practical Guide for Parents, Teachers, And Therapists
http://www.amazon.com/dp/088937306X?tag=retgir-20&camp=0&creative=0&linkCode=as1&creativeASIN=088937306X&adid=07CFZSSN0K5H2SMWNED9
The brand new edition of this unique book describes the difficulties and challenges of girls and women with Rett Syndrome, and proposes solutions that can help them in everyday life. Written from an educational perspective, and based on extensive practical, real-life experience, it also takes int...
Pathways to Learning in Rett Syndrome
http://www.amazon.com/dp/185346533X?tag=retgir-20&camp=0&creative=0&linkCode=as1&creativeASIN=185346533X&adid=0GMFT8NMT5F983H2THYX
Offering accessible advice on the special educational needs of girls with Rett syndrome, this volume aims to assist teachers in developing a working knowledge of the syndrome and suggests particular strategies in planning a curriculum which may help overcome the specific difficulties within the d...
Saturday, July 16, 2011
Friday, July 15, 2011
Hello
Dear Friends and Family,
On December 22nd 1996 our amazing, beautiful, precocious Baby Girl Amanda was born. On November 23 1999, our greatest fear was realized. A blood test confirmed that our Little Baby Girl Amanda had Rett Syndrome. That day was one of the worst days of our lives. For the past 14 years a cure for Rett Syndrome is the first thing we think about when we wake up in the morning and the last before we go to sleep.
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 hand washing, 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. Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births. Rett syndrome 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 is confirmed with a simple blood test to identify the MECP2 mutation. However, since the MECP2 mutation is also seen in other disorders, the presence of the MECP2 mutation in itself is not enough for the diagnosis of Rett syndrome. Diagnosis requires either the presence of the mutation (a molecular diagnosis) or fulfillment of the diagnostic criteria (a clinical diagnosis, based on signs and symptoms that you can observe) or both.
On December 22nd 1996 our amazing, beautiful, precocious Baby Girl Amanda was born. On November 23 1999, our greatest fear was realized. A blood test confirmed that our Little Baby Girl Amanda had Rett Syndrome. That day was one of the worst days of our lives. For the past 14 years a cure for Rett Syndrome is the first thing we think about when we wake up in the morning and the last before we go to sleep.
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 hand washing, 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. Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births. Rett syndrome 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 is confirmed with a simple blood test to identify the MECP2 mutation. However, since the MECP2 mutation is also seen in other disorders, the presence of the MECP2 mutation in itself is not enough for the diagnosis of Rett syndrome. Diagnosis requires either the presence of the mutation (a molecular diagnosis) or fulfillment of the diagnostic criteria (a clinical diagnosis, based on signs and symptoms that you can observe) or both.
Amanda currently cannot walk, and has some use of her hands. Her biggest challenge is that she is unable to speak. For someone who is 14 years old this is a tremendous handicap. Amanda can express what she is feeling, It pains us to imagine how isolated she must feel. Amanda is unable to do any self-care and requires 24hr assistance.
As her mom I am constantly amazed at her strength and perseverance, I know that my goal of walking a 1/2 marathon pales in comparison to Amanda’s daily life challenges. Some of the best friends anyone could ask for will be walking for Team Amanda on September 10th 2011 and Amanda will be at the finish cheering them on!!!
So now for some good news...Rett Syndrome has been reversed in a mouse model. Scientists are making amazing strides in their research and we truly believe Rett Syndrome will become the first reversible neurological disorder. Rett Syndrome is grossly under funded. The charity I am running for is Rett Syndrome Research Trust - www.RSRT.org. 96% of every dollar donated goes directly towards researching a cure for my Amanda and the thousands of other girls who suffer from Rett Syndrome each day.
Many thanks for your support and don’t forget to forward this to anyone who might want to support Team Amanda.
Thank You,
Coats Family
Lynn, Lucrezia, Jeremy and Amanda…………………………………………………..
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