My daughter is not your typical 18 month old little girl. Her name is Lillian, and she was diagnosed with 1p36 deletion syndrome (www.1p36dsa.org) on October 18th, 2012. This syndrome causes many complications. Lilly can not bear weight on her legs because of her low muscle tone. She requires weekly check ups along with physical therapy, occupational therapy, and speech therapy. Most of all she requires my full undivided attention. Its very time consuming and I haven't been able to work the proper amount of hours in order to buy the things she needs. I am very behind on everything but I am only asking for something very needed for Lilly and I. We are in need of a good sufficent stroller ($500) to make hospital visits easier. I only have an umbrella stroller and due to her low muscle tone, she doesn't do very well in the stroller for the long amount of time she has to stay in it. PLEASE help me us!!!!!!!!
Thank you greatly and God bless
WHAT IS 1P36 DELETION SYNDROME?
1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia).
People with 1p36 deletion syndrome have a small head that is also unusually short and wide in proportion to its size (microbrachycephaly). Affected individuals also have distinctive facial features including deep-set eyes with straight eyebrows; a sunken appearance of the middle of the face (midface hypoplasia); a broad, flat nose; a long area between the nose and mouth (philtrum); a pointed chin; and ears that are low-set, rotated backwards, and abnormally shaped.
People with 1p36 deletion syndrome may have vision or hearing problems. Some have abnormalities of the skeleton, heart, gastrointestinal system, kidneys, or genitalia.