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    0 The reality of Rett's syndrome
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    0 Written by Rachael Devaney
    1 February 12, 2015
    2 Rett Syndrome is a disorder that robs its victims of use of their hands, delays the growth of their bodies and brains, and can even cause seizures and difficulty walking, but one Barnstable High School student is doing something about it.
    Melinda Lancaster calls her daughter Katelin "brave and courageous" as she helps find a cure for Rett Syndrome, the disorder she lives with each day of her young life.
    On Wednesday, Lancaster addressed Barnstable High School statistics students in the Knight Lecture Hall, sharing her daughter's involvement in a clinical drug trial, sponsored by Neuren Pharmaceuticals Limited.
    According to Lancaster, Katelin was only one of 53 women that participated in the 40-day trial, which was executed in Austin, Texas.
    Currently there is no cure for Rett syndrome, and according to handouts provided by Neuren Pharmaceuticals, each case is different, but the rare neurodevelopmental disorder affects girls almost exclusively. Its hallmarks include normal early growth that is followed by a slowing of development physically and intellectually, loss of vital hand use, unique hand movements, slowed growth of the brain and head, as well as difficulty walking, and seizures.
    Katelin is in the top 1 percent of people that suffer from the disorder, which primarily impacts girls, and as a result she has higher functioning skills than most, but still qualified for phase two of the drug trial. After Katelin was confirmed as a participant, Lancaster explained that one-third of the group was given a placebo - an inactive drug or treatment - with the rest given an experimental medication called NNZ-2566, a drug that is currently being used to treat military members that suffered brain injury.
    While Lancaster said she can't be sure that her daughter received actual medication, from her perspective, she observed a "sharp improvement" in Katelin's motor skills and documented her progress with video, which she included in her presentation.
    "We don't know who got the placebos yet, and we will find out this April. However, anyone who knows Katelin is pretty sure she got the medication," Lancaster said. "To prove that we initiated several experiments - one being a coloring experiment. On day one of the trial she was able to dab a marker on a piece of paper. On day two we could see that she began to draw a couple of lines and the paper was more covered in color. On day four there were no dots, only purposeful marks and long hand strokes, and on day 16 she was able to make a circle. To me that was an absolute miracle. Researchers were very excited."
    Lancaster is frustrated that after the drug trial was over, Katelin returned to what Lancaster refers to as "baseline," and began losing the skills she gained, reverting backwards in her progress. While she said it was "extremely traumatic" to watch Katelin digress, she feels the trial was "well worth it."
    "We are just so filled with hope that there is something out there that could help my child. For 17 years I have had to watch this disorder attack her on daily basis and I constantly worry what will happen to her as she gets older," Lancaster said. "And whether she received the placebo or not, we are just desperate for effective treatment. Through this trial there is so much potential. The research is allowing doctors to look at a myriad of serious neurological problems and we are proud to be a part of that."
    Throughout Lancaster's presentation, Katelin was present as well, and students were able to both observe the mother and daughter's interaction, as well as ask questions. Honors statistics teacher Joseph Nystrom said he believes his students benefited greatly from Lancaster's speech because it brings a "human side" of statistics that can't be learned in the classroom.
    "It's good for them to see this and learn from Katelin who is also their peer here at the school. In class we are learning a lot about design studies. We have talked a lot about the Polio trials and the ethical side to experimental medications and placebos," Nystrom said. "Today they were able to see this really courageous student that has actually gone through an experimental drug trial, and that is really amazing."
    Carol Chamberlain, also a statistics teacher, agreed, and said her students learned a lot from this "real life application."This was such a neat connection to have a student from our school and from our community that has been a part of an experiment, and we are really grateful that Melinda and Katelin were willing to share their experience with us," Chamberlain said.
    As for Lancaster and Katelin, they "continue to be hopeful" that the Federal Drug Administration will designate a "breakthrough therapy status," which would allow many that suffer from Rett Syndrome "so much possibility."
    "The results have been encouraging, and while it has been very emotional, and frustrating at times, it has just been nice to be able to do something about this disorder," she said. "Just to do something this important was such a blessing and all the parents that had their children participate in this trial are just looking for something that can help our children speak, and walk - any kind of improvement really. To have that hope is more than we have ever had before."
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