Meet the girls (and their families) behind the Quest for a Cure walkathon:
On June 5th, 2016 our sweet Daphne was born and welcomed by Mom, Dad, and sister Lorelei. Daphne soon began missing key developmental milestones and began experiencing medical issues ranging from sever acid reflux, to hand wringing, to seizures. After seeing many medical specialists, Daphne was diagnosed in March 2019 with a rare genetic disease called Rett Syndrome. Rett Syndrome has left Daphne unable to walk and talk and she requires help with the most basic daily tasks such as feeding herself and expressing her wants and needs. The brutal nature of Rett Syndrome will mean lifelong struggles and the fear of the next regression stage that could strip Daphne of skills she has managed to retain thus far.
Although this was a life changing diagnosis, Daphne has a tremendous support group from an incredibly involved and passionate group of family and friends to a terrific team of therapists, teachers, and doctors. Although still young, Daphne is a warrior and we embrace every day we get to hear her laugh and see her bright smile. Daphne loves getting pushed in her swing, splashing around in the pool and lake, and watching her favorite cartoon shows with her big sister. However, it breaks our hearts to think that Daphne cannot run through the backyard with her sister, learn to ride a bike, and say I love you.
Rett Syndrome is a devastating disorder but there is hope. A tremendous amount of research has been done to reverse Rett Syndrome. This research can only continue with your help and generosity. Please consider donating and joining Daphne and all of us for the charity walk to help support a cure for Daphne and all the other girls impacted by this terrible disorder.
- Kate & Bobby Ficano
Annie was born on January 6, 2005. A beautiful, healthy, strong little girl that smiled from day one. She was a delight, very quiet, peaceful and delicate. At 9 months of age everything changed. Annie fell off her weight charts, failed to meet milestones and became very sick. She cried for hours inconsolably. Then she had a seizure. Tests were done and finally at 15 months of age Annie was diagnosed with Rett Syndrome. After the initial shock of the diagnosis wore off and through the process of grieving we decided to do everything we could to help Annie acquire new skills and fight to keep the ones she already had.
Annie is a happy, 15 year old girl. She is able to stand independently and walks with assistance. She doesn’t say any words but speaks volumes with her engaging eyes and infectious giggles. Annie loves music, animals, people, and going for runs in the jogging stroller but her favorite times are spent playing with her brother and sister. Annie is in school and attends occupational therapy, physical therapy, hippotherapy, animal therapy and augmentative communication. She has a beautiful personality and an attitude of strength and determination. Annie teaches us about love, patience, acceptance, hope and faith on a daily basis. She truly is our angel.
Rett Syndrome is a devastating disease that has robbed Annie of any sort of independence. She is not able to run, color, sing, dance, feed herself, reach for a toy, or tell us her needs and wants. Annie’s autonomic system has been affected, she has trouble chewing and swallowing and is fed through a g-tube for extra nourishment. She has anxiety, poor circulation, severe digestive problems, trouble regulating her breathing and body temperature, disrupted sleep patterns and scoliosis. Annie will need 24 hour care for the rest of her life. Currently there are no treatments or cure for Rett Syndrome.
Despite the grim reality of Rett Syndrome there is hope. Research for Rett Syndrome has uncovered its cause, a genetic mutation in the MECP2 gene. In February, 2007 researchers successfully reversed Rett Syndrome in a mouse model. Treatment and a cure for Rett Syndrome is now within reach. We believe that Rett Syndrome will be the first childhood neurological disorder to be cured but we need your help. Annie’s miracle is around the corner, the science is there, the funding is not. Without private funding our cure will remain decades away. Please help us is making this dream a reality and giving these girls a chance at life!
- Bridget & Scott MacDonald
On February 1, 1998, we welcomed the arrival of our first child, Jillian. Although always a happy and content baby, after several months it became apparent that Jillian was not reaching important developmental milestones like walking or talking. For more than two years, we went from specialist to specialist trying to discover what was causing this failure to develop. In November 2000, we noticed that Jillian was breathing very strangely (in hindsight a hallmark of Rett Syndrome). The next day Jillian suffered the first of many seizures. She was hospitalized for several days, and shortly thereafter she was tested to see whether she had a mutation in the Mecp2 gene. She did, confirming the preliminary diagnosis of Rett Syndrome.
Jillian is now 22 years old, and for several years her seizures have been controlled by medication. In general she has been remarkably healthy, particularly since her October 2009 spinal fusion surgery to straighten her spine which had a 130 degree curve. However, girls with Rett Syndrome face a host of medical challenges throughout their lives – from seizures and scoliosis to feeding and breathing difficulties, to potential cardiac complications.
We live in Novi along with Jillian's brother Drew and her sister Kara, as well as Hammond, her social support dog. She loves listening to music, watching her favorite TV programs, and -- most of all -- swimming. She is a happy kid whose smile brightens even the darkest day, and we feel very blessed to have her in our lives.
- Colleen & Jeff Peterson
Hailey was born on March 20, 2002 and was a strong, beautiful, and happy baby with the most beautiful sparkling blue eyes! As time went by, Hailey began to fall off the charts and miss her milestones. She withdrew from everything around her, lost her speech and hand mobility and began to have medical issues. In 2004 we received the devastating diagnosis of Rett Syndrome.
Little by little, we watched Rett Syndrome rob Hailey of everything that a typical little girl should be experiencing in her precious life. She could no longer walk, talk or feed herself and was 100% dependent on others to assist her with everything. Plagued by poor circulation, scoliosis, anxiety, reflux, seizures, and disrupted sleep patterns, she still managed to smile, laugh and persevere through it all. Throughout her life she has received many therapies to help fight this devastating disorder and she has been attending Glen H. Peters School in Macomb, MI since age 2 ½. She has an amazing team of caregivers, doctors, teachers and therapists who help manage all her personal, medical and educational needs. Rett Syndrome has not been easy on her as she has gotten older. She also suffers from Myoclonus, receives supplemental nutrition through her g-tube, and just last year had spinal fusion surgery to combat scoliosis.
Hailey is now 18 years old. She has been through a lot in her short life, but she is a warrior. She is a beautiful, smart, happy young lady who lights up our lives with her smiles and laughter. She is a proud big sister to our 11-year-old twins, Joslyn and Justyn and to her dog England. She has many friends, plays Challenger Baseball, loves to swim, go on walks, watch Diego and Monsters Inc, read books and play games. Although she cannot talk, she speaks volumes with her eyes and communicates with her Tobii Eye Gaze Device.
She is truly a gift from God and has taught us love, patience and kindness to say the least. Despite the devastating reality of this disease, there is hope for Hailey and the thousands of children who suffer from Rett Syndrome worldwide. Researchers are working daily to find a cure or treatments for our children. Please come and walk with us as we get closer to a cure!
- Shelley and Jeremy Petty
Olivia was born on April 12, 2003. She was our 2nd child and our first and only daughter. She was born 4 weeks early but was a healthy, delightful baby. Around 6-9 months of age, it was apparent that she stopped meeting milestones and was diagnosed with congenital hypotonia at her 9 month check up. Over the next year, her tone did not improve and she steadily lost all her skills as the devastating regression phase took over. Initial tests did not confirm Rett Syndrome but we lived the next year as if she did have it. It wasn't until her 4th birthday while in South Carolina following up at a clinic for another syndrome that a neurologist from Utah thought she had, a Rett specialist discovered that Olivia was never tested for a deletion of the MeCP2 gene that causes Rett Syndrome. Sure enough, we had our confirmation - it was indeed Rett Syndrome that Olivia was suffering from!
Olivia is now a 17 year old girl who is vibrant and full of love. She has been relatively healthy but does suffer from periodic seizure episodes and reflux disease. Her eyes will tell you a thousand words as this is her only means of effective communication. Through hard work at PT, she is beginning to gain strength to stand with assistance and our hope is that Olivia will be able to walk one day soon. We have begun the process of obtaining an eye gaze communication system through the insurance as her evaluation went really well. Our hope is for Olivia to build skills to communicate with a device and make her own choices one day.
Despite all the good news, Rett Syndrome continues to be a devastating disease that affects Olivia as well as thousands of other girls world wide. Frequent seizures, painful reflux disease, orthopeadic disorders, repetitive hand wringing and teeth grinding, as well as irregular breathing patterns are only a few of the sequalae of Rett Syndrome. With so many researchers and Rett specialists confident that this will be the first curable genetic disorder, significant advances and treatment are just around the corner. Please join us on our walk-a-thon and raise money to help stamp out Rett Syndrome!
-Amy & Jeff Rokicki
Isabella was born on October 31, 2002, a healthy, beautiful and content baby. She developed normally until the age of 12 - 15 months, when we became concerned she missed a major milestone. Over the course of the next year, we sought consultation of several local specialists, and simultaneously through the same time period, skills she had acquired began to disappear (the regression stage of RS). Isabella lost the few words she had learned to speak, and the usage of her hands. She developed the repetitive hand movements which we later learned was a clinical characteristic of Rett Syndrome. Finally, a physician suggested testing for Rett Syndrome and the results were positive for the MeCP2 gene mutation. Words cannot describe our devastation! She was just 26 months old, and that call changed our lives forever.
It has been a long journey since the day we received that call, but Isabella is a wonderful 17 year old with an extremely positive attitude and determination which inspires us every day. On a daily basis, Bella receives medication to control her seizures and acid reflux. She attends physical, occupational, music, speech & horse therapy. Through all her hard work she has strengthened her core region and continues to give it her all!
Isabella’s giggles, smiles and big brown eyes bring joy to our lives. She loves being with her family & friends, listening to music, playing baseball on the Miracle League, riding horse and her adaptive bike. She has taught us so much about what is truly important in life and unconditional love!
We look forward to the day when Isabella and the thousands of girls with Rett Syndrome get back what the disease has taken away. Rett Syndrome is a devastating disorder and we truly believe, along with Rett specialists that one day a treatment or cure for Rett Syndrome will be discovered. Please come join us at the Quest for a Cure Walkathon and help make a difference!
-Roberto & Wendy Scappaticci
Emily was born on August 11, 2005. She is our only child and has seemed to enjoy receiving all of our attention. From a very young age, Emily tried to engage anyone around her with her smiles and infectious giggles. She spoke early and reached all her developmental milestones early or on time, with the exception of walking toward the later end of the normal range. Emily had a large vocabulary and was speaking in short sentences when her regression started around the age of 26-27 months. We first noticed something was wrong when she started mispronouncing words and calling things by the wrong name. Emily was first diagnosed as having mild autistic disorder since no other symptoms of Rett Syndrome were evident at that time. We later had genetic testing performed and a diagnosis of Rett Syndrome was confirmed when she was 3 years old. Due to the late onset of Emily’s regression and the fact that she retained a few words, some hand use, and mobility, she was classified as having atypical Rett Syndrome. However, Emily currently suffers from many of the common symptoms such as seizures, scoliosis, breathing irregularities, and gastrointestinal issues.
Once we learned of Emily’s diagnosis, we did everything we could to try to help her retain her abilities and prevent further loss of skills. That included her starting school in the Early On program and attending many therapies. Emily has attended speech/communication, occupational, physical, music, recreational, and ABA therapies as well as participated in the PLAY Project. In speech/communication therapy, she learned to use an eye gaze computer, which has helped significantly to open her world of communication. Emily attended public school since the age of 2 1/2 but we began homeschooling during the 2016-2017 school year. Emily loves watching episodes of her favorite TV shows, having books read to her, listening to music, swinging, and riding her adaptive bike. Her interests also include animals and science.
Thanks to the promising advances in research over the past few years, we remain hopeful that a cure for Rett Syndrome is coming soon. This research can only continue with the financial support of those who care about someone affected by Rett Syndrome. Please consider donating to help fund the research and make the cure happen as soon as possible.
-Karen & Bill Weinrauch