Wednesday, February 29, 2012

Rare Disease Day: Rett Syndrome

Rare Disease Day

Today is Leap year, and Leap year is rare, but do you know what else is rare?  

There are many types of rare disease that effect over 1 million people.  That is why today is national Rare Disease Day.  

In Honor of my daughter, Mare Bear  I wanted to bring awareness to those effected by rare disease, like Rett Syndrome.  

Rett Syndrome...

 is a developmental disorder. It is not a degenerative disorder.

 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.

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.

I have said this before on my blog, "Sometime you pick a cause and sometimes, like in our case, a cause picks you."  

Information about Rett syndrome found at

If you have a rare disease, don't be ashamed, let the whole world know.  Bring awareness to your rare disease.  Leave a comment telling me what your rare disease is, or a disease that is effecting your family.  Together we are strong.

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Click here to checkout Rare Disease day  website