A little about Rett Syndrome:
- Rett syndrome is a unique developmental disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys.
- 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 presents many challenges, but with love, therapy and assistance, those with the syndrome can benefit from school and community activities well into middle age and beyond. They experience a full range of emotions and show their engaging personalities as they take part in social, educational, and recreational activities at home and in the community.
- Rett syndrome can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of her mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different.
My goal with is blog it to share what it is like for Abby and her family to live with Rett Syndrome. When we first got Abby's diagnosis, reading about other girls' journeys helped us prepare for what is ahead. I hope that sharing Abby's story is helpful to other families facing the same diagnosis as well as spreading awareness. I don't know what the future holds for Abby, but I know that a cure is a very real possibility. I hope our blog helps you understand more about Abby and gives you the motivation that we have to find a cure.