The most amazing video you will see today is the first steps of a little girl who was told that she would probably never walk. Scottie Mae Blair was diagnosed with Angelman syndrome. This rare genetic condition causes physical and learning disabilities that hinder development. More information on that below.
We always give you a Cup O’ Joy on The Andie Summers Show, and today you get the amazing reaction of the parents and siblings of little Scottie. These first steps are precious.
First Steps Video For Scottie
What Is Angelman’s Syndrome?
According to Angelman.org, here’s more details about Scottie’s condition.
Angelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births or 500,000 people worldwide. It is caused by a loss of function of the UBE3A gene in the 15th chromosome derived from the mother.
Learning more about this syndrome has really helped understand what these parents, this little girl and her siblings have been going through. As many families know, one family member’s journey and battle is EVERYONE’S journey and battle.
Here’s more information about Angelman Syndrome.
Angelman syndrome shares symptoms and characteristics with other disorders including autism, cerebral palsy and Prader-Willi syndrome. Due to the common characteristics, misdiagnosis occurs often.
Why It’s Important To Spread The Word
I always feel like when it comes to rare disorders, it is so important to get the word out about it so families can have help and answers. So maybe, in reading this article, you or somebody you love may get some answers for a member of their family! That is what this Cup O’ Joy story is all about, supporting others.
To get to know this little girl Scottie better, here’s some more information about the journey she has been on. Also from Angelman.org.
People with Angelman syndrome have developmental problems that become noticeable by the age of 6 – 12 months. Other common signs and symptoms usually appear in early childhood like walking and balance disorders, gastrointestinal issues, seizures and little to no speech. Despite these symptoms, people with Angelman syndrome have an overall happy and excitable demeanor. An individual with AS will light up a room with their smile and laughter.
Jeff Kurkjian is the morning show co-host on "The Andie Summers Show" on 92.5 XTU, Philly's Country Station. He's the nationally syndicated show host of "Jeff Kurkjian's Country Beat." As a content creator for 92.5 XTU he shares his perspective of being a dad, husband, country music and sports, specifically baseball.
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