By Ottilie Von Henning via SWNS
A four-year-old girl who doctors said would never walk has defied the odds and taken her first steps.
Scottie Mae Blair was diagnosed with Angelman syndrome at 11 months old.
The rare genetic condition causes severe physical and learning disabilities.
Upon the diagnosis, parents Logan Blair, 32, and Edward Blair, 35, were told their daughter would never be able to walk, talk, read, write or live independently.
However, a year later, Logan received a call from doctors telling her that Scottie Mae had been misdiagnosed.
She was told the then two-year-old actually had DUP15q syndrome, a similar but less severe disorder.
This meant that Scottie Mae was now more likely to reach these milestones, but medical professionals didn’t expect her to hit them this early.
Logan, based near Tucson, Arizona, said: “Seeing her take her first steps felt so good, like seeing all the work paying off.
“While everyone is screaming and shouting in the video, I was squeezing Scottie Mae so tight and sobbing.
“I knew that God was going to allow her to take those steps.
“Her sisters are going crazy, they are her biggest cheerleaders and want to see her succeed.”
Scottie Mae began having seizures when she was 10 months old, which was the first sign to her parents that something was wrong.
Logan said: “On the first day she ever had a seizure, she ended up having more than 100 just in that day.
“We went to the ER, at which point the seizures had temporarily stopped but I had taken a video of them.”
Logan and Edward showed the video to the doctor and Scottie Mae was immediately admitted.
Logan said: “She went in for an MRI and then was hooked up to an EEG.
“We were there for five days.”
Less than a month later, Scottie Mae’s was diagnosed with Angelman syndrome.
Angelman syndrome can cause severe intellectual disability, limited to no functional speech, balance and movement problems, and seizures.
Logan, a mother of four, said: “When first getting a diagnosis, everything seemed dark and I had it stuck in my head that she would not be able to accomplish these milestones.
“It was very hard to hear someone tell you what your child won’t do.
“We also had to learn to accept help from others and that it was ok to ask for help as well.
“Our family, friends, and church set up a meal train and we were blessed to not have to cook dinner for an entire month.
“It was a big adjustment going to doctors all the time.
“Even though she is my fourth child, I felt like I was starting over as a parent.
“As time went on, we found our groove, got more comfortable with seizures, and adjusted to Scottie Mae’s life with Angelman syndrome.”
As the family was beginning to accept the diagnosis, Logan received a call from doctors to say she instead had DUP15q syndrome.
DUP15q syndrome is also a rare genetic disorder but symptoms can vary greatly among affected people.
Logan said: “With the new diagnosis, we know that it is simply going to take more time than a typical developing child.
“We don’t like to set timelines on our girl as to when we expect her to reach these milestones.”
Scottie Mae has attended four different types of therapy every week for the past three years.
Logan said: “We are in speech, feeding, occupational, and physical therapy and she is working every day at progressing.
“There have also been so many hours and appointments of physical therapy and having a physical therapist who believes in her and knows her potential has made a huge difference.
“Her dad and I have spent a lot of time researching different techniques, buying different equipment, and trying new things with her to see if it would help.
“There are so many hours behind the scenes of special needs parents putting in so much work for our kids.”
The seizures are now no longer as frequent and are controlled by medication.
With her walking milestone now passed, a whole new world has opened up for Scottie Mae.
Logan said: “This changes everything!
“Even though she has taken those first steps, she isn’t walking all the time.
“With Scottie, she may meet a new milestone, but it takes her a while to master it.
“We know the day is coming when we can confidently let her walk completely on her own.”
