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News Eagle - Hawley, PA
  • Saige's family responds to rare disorder

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  • HAWLEY - A miracle occurred nearly four years ago, when Saige Fohl proved doctors wrong by living. Today, Saige is approximately one of 500 children worldwide with a rare metabolic disorder called nonketotic hyperglycinemia or NKH. The disorder, Robin Fohl, Saige’s mother says is problematic because high glycine levels accumulate in body tissues, but the body is unable to metabolize the glycine properly. The excessive glycine is an issue because it affects the brain. Although the disorder is not curable, sodium benzoate can lower the high glycine levels. Today, Saige takes the medication every four hours and she will continue that for the rest of her life, to keep the glycine levels broken down.
        The whole ordeal began, after Saige was first discharged from the hospital and she was limp and wouldn’t feed. After countless tests that came back negative and being in a coma for nearly 10 days, doctors diagnosed Saige with a mild form of NKH. Because the future appeared grim, Fohl and her husband Kurt brought their newborn daughter home where she received hospice care. Gradually Saige got better, and because there was nothing more hospice could do, it came to a point where the family was, “just winging it,” explains Robin.
        Today, Saige appears like any child as she is energetic and happy. The only immediate difference is that she is not verbal. Although she does not talk, that does not mean Saige doesn’t get her point across says Robin. Whether by signing or by using resources like an IPad to communicate with pictures, Robin tends to discover what her daughter is looking for. Using the IPad has been helpful, but Saige still has difficulties pointing to the objects she wants and so she smacks the screen because she is still learning how to use the device.
        Robin says Saige is aware of her inability to communicate with others and she expresses her frustration by sometimes jumping up and down or grabbing at things. There are things Saige gets attached to and one thing is polka music which she loves to hear in the morning. Now, with the help of her mother, Saige is learning how to polka dance by standing on Robin’s feet.
        Since September, Saige has been attending the Center for Developmental Disabilities of Pike County in Milford where she receives one-on-one help, five days a week and she is learning how to do things, such as sitting for a period of time and using a fork to eat. Using a spoon is still a challenge though, unless the food is thicker. The family lives in Lords Valley, but on Wednesdays Robin drives her daughter to the Hawley School for physical, occupational and speech therapy and then goes to the CDD for the rest of the day. A benefit to the schooling, Robin says is that Saige is learning routines and that has helped her as the way a lot of things are done at school, follow through with how things are done at home, such as putting her toys away. The schooling, she adds has helped Saige make, “great strides.”
    Page 2 of 2 -     Robin says her daughter’s dexterity isn’t great, but she’s learning and things she is able to do now, she couldn’t do before she started school. Saige is smart, Robin says, but the speech and dexterity are the primary problems. Having met with geneticists, Robin has been told that her daughter will talk and go to school, possibly public school, but in a special needs program. Despite the lack of verbal communication, Robin said, “It’ll all come together.”
        With the help of her husband, Robin says she has been able to get through the doctor visits and continuous therapies. Considering her daughter’s situation, Robin says it is sad at times because she doesn’t feel any child should have such complications. Even though she cannot verbally communicate with other children, Robin says her daughter tends to be a star amongst others because they are drawn to her cheerful personality.
        Before meeting a mother who also has a child with NKH, Robin admits that she didn’t want to talk about her daughter’s condition. But the founder of NKH Crusaders has helped Robin as she has started her own fundraiser for NKH research. Since so many families have their own struggles and money may be difficult, Robin decided she wants to do something to help. And so, the annual JuneFest at the Best Western in Matamoros will occur June 22 where there will be a polka band, dancers, a silent auction and a 50/50. With donations from area businesses, Robin has made baskets with gift certificates and family and friends have donated baskets that will be raffled off. John Stevens Double Shot will perform with Grammy nominated Alex Meixner Band. Tickets are $45, for more information call (570) 775-9758.
        One year, nearly $17,000 was raised from JuneFest and this year, Robin says any amount would be fantastic because it’s all about bringing awareness to the incurable disease. Saige, Robin concludes, “was given life for a reason and she is showing what life’s all about. Life’s a fight and she is fighting it with her wide smile.”
        For more information about NKH Crusaders visit:
    http://www.nkhcrusaders.com/Pages/default.aspx

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