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Rett Syndrome
Vanessa Glinsky was a happy, babbling 12-month old baby who loved to look at books and point at the pictures. Then, her language skills began to drop off.
Her mother, Kristi Sughroue, now of rural Culbertson but living in Denver at the time, at first didn't notice the change as it was so gradual. Still, she knew something was wrong and began making the rounds of hospitals with her daughter.
In 1989, after multiple testing, doctors tentatively diagnosed Vanessa by the age of three with autism and unspecified development delay disorder. No cause and no cure was given.
But the diagnosis left Kristi with more questions than answers. Looking back, Kristi said she never felt comfortable with the diagnosis as it didn't address specific symptoms Vanessa had but weren't present with autism, such as the constant hand wringing, severe gastrointestinal problems, screaming fits and scoliosis.
In fact, Vanessa didn't have autism at all but a little-known neurological condition that affects only girls, Rett Syndrome. The condition was first recorded by an Austrian doctor in 1956 but flew largely under the medical radar until 1999, when it was discovered that it was caused by a mutation of a gene on the X chromosome. This discovery later led to the development of a blood test that can detect the condition.
Still, the disease is still largely unknown and many girls with the condition are most often misdiagnosed with autism or cerebral palsy.
But Kristi didn't know all that in 1989. Instead, she and her family learned to adjust with a child that needed 24-hour care.
It was a grieving process, Kristie recalled. "All the dreams I had for my child had to die. I had to accept the situation and concentrate on what she could do, not what she couldn't."
Girls with Rett Syndrome progress normally as babies but between the ages of six and 18 months began to regress gradually, losing speech, motor and brain functions. Many are confined to a wheel chair but some, like Vanessa, can walk with assistance. The condition affects one in every 10,000 to 15,000 live female births but is not fatal: the girls can live at least into their 40s or longer. More than 99 percent of classic Rett Syndrome cases occur in people with no history of the disorder.
Kristi moved to Culbertson in 1997 and life went on, although she still couldn't shake the feeling that there was more to Vanessa's condition than just autism. Then, 10 years later in 2007, when Vanessa was 21, Kristi heard a radio show on autism when Rett Syndrome was briefly mentioned. Even before she got on the Internet, Kristi knew it was what her daughter had all these years.
"I just knew it - everything lined up, the regression, hand wringing, scoliosis, everything," she said.
She made an appointment with Vanessa's doctor and asked for the blood test used to identify Rett Syndrome. Her doctor hadn't heard of it.
"But once she got on her computer and looked it up, she knew what I was talking about," Sughroue said. The blood test came back positive for Rett Syndrome and Vanessa became one of only 24 cases now identified in Nebraska.
The correct diagnosis has opened up a whole new world for Vanessa's mom.
"It gave me peace of mind and I didn't feel so alone anymore, because there are so many other parents out there who have daughters like Vanessa," Kristi said.
And Kristi can now connect with those parents via Internet forums. She talks to new parents who don't know what to expect along with parents of older girls, who have navigated through the years of Rett Syndrome.
"It's nice to know there's a whole community out there that knows exactly you're going through," she said.
These days, Vanessa spends her days at the Southwest Area Training Services, where she's taught rehabilitation and vocational skills and lives with Kristi, who has remarried, along with her stepdad and sister Nichole. Alternating weekends are spent with the father, Don Glinsky, who remains an active part of her life.
Despite the difficulties, Kristi said Vanessa has taught her what is really important in life.
"Vanessa doesn't care what you look like or what you do, she accepts you for who you are," Kristi said. Happiness isn't about the outside stuff, she said. "Life isn't all about the car, the house, or the job."
People sometimes tell her that they could never do what she does, Kristi related. "And I'd probably say the same thing, if it hadn't happened to me," she said.
"But I've accepted Vanessa for who she is and its been a blessing to have her in our lives." Kristi's faith has also helped her get through the hard times, she said, in particular two verses: "What you do the least of my brothers, you do unto me," and "My grace is sufficient for you, for (God's) power is made perfect in weakness."
With October as Rett Syndrome Awareness Month, Kristi is trying to get the word out about the condition, so other parents don't have to go through years of doubt like she did.
"I just want Vanessa, and others like her, to have the best quality of life as possible," she said.
For more information on Retts Syndrome or to contribute funds for research, go to www.rettsyndrome.org