ABOUT ERIKA
Who Erika Is...
Erika Josephson was born prematurely June 30 with a rare Syndrome known as CHARGE. CHARGE is a rare complex genetic syndrome. CHARGE is an acronym for features found in children with CHARGE. A diagnosis of CHARGE is made by finding a mutation in the CHD 7 gene on chromosome #8 or using Major and Minor clinical features. Some of the features seen in children with CHARGE are: Coloboma of the eyes (cleft of the eyeball causing vision loss or blindness) Heart defects, Atresia of the nose (a blockage or narrowing of the airway from the back of the nose to the throat) Retardation of growth and development, Genito-urinary (kidney) Ear anomalies and hearing loss (most have unusually formed ears and hearing loss ranging from mild to profound leading to poor balance). Children with CHARGE syndrome have developmental delays. Other features can be cranial nerve damage resulting in facial palsy, swallowing problems and absent sense of smell. Additionally, there can be growth deficiency, poor upper body strength, Because of all the medical issues, many children spend many months in the hospital. The intelligence of children with CHARGE is often underestimated due to the combined vision and hearing loss and multiple medical issues. CHARGE is medically and developmentally one of the most complex conditions known. Erika has all of the above features.
Erika’s History...
When Erika was born, she spent the first 5 months of her life in the Neonatal Unit fighting for her life. To date, Erika has had over 35 surgeries. She had multiple surgeries in the first few months to include her first heart surgery, a trach tube was placed because of her breathing difficulties, a feeding tube because she could not eat by mouth. She finally came home requiring 24 hour nursing care, hooked up to a ventilator and oxygen. Seven months later, she went in for her 2nd heart surgery. Unfortunately, that did not go well. She went into blood pressure arrest, followed by cardiac arrest. Her sternum incision became infected which required debridement of the sternum. After receiving chest compressions she had a miraculous turn around and with many prayers from her parents, the heart came back but she was in a coma. They wanted to stop treating her and pull the plug, but we said no. She also had multi system failure; kidneys, liver along with infection through out her body. They gave her less than ½% chance of survival. She slowly came back to us but not without more problems. She came home from the hospital nine weeks later, still very weak and sick, but she came home. Over the years, Erika has worked very hard and has surprised all of us with her endurance and strong will. At the age of 8 years the trach tube finally came out. She is working on swallowing with the hopes that some day her feeding tube will also be removed. She has attended 9 intensive Rehabilitation programs out of state. She has been to many top medical specialists all over the country. She worked with a doctor from Germany doing fetal cell injections, a therapist from Brazil, and attends at least once or twice a year a Rehabilitation program in California with Polish Trained Therapist. She is now walking, with assistance in crutches! She sees a chiropractor weekly. Her diet through her feeding tube is now dairy free, gluten free foods and she takes a whole lot of vitamin supplements! Erika works very hard and is full of spunk. She has made a lot of progress with her development. She is almost always happy. She has a crooked smile (because of facial palsy) that is full of love. She loves to give big strong hugs.
Where Erika is Today...
Erika is in the 7th grade at our district’s Middle School. She loves school and is doing well. She has a boyfriend this year! She still receives, PT, OT, Speech, Feeding, Vision and has a Teacher of the Deaf. She has music, home Economics, Gym and Tech. She uses jelly switches to greet people and to make choices. She also works on a touch screen computer. She has been to Perkins School for the Blind in Boston for testing and they have come to her school to train her teachers. She still receives PT at home, attends an after school bowling program, goes to a Buddy Club, participates in Special Olympics and takes Adaptive Horseback Riding lessons with an OT. Over the years she has attended a Dolphin Therapy program, Adaptive Skiing, been a brownie and girl scout, taken music, yoga, and soccer. She is very social. She is making steady progress walking with her crutches, and she can sit with out support for several minutes at a time. She is still fed through a feeding tube, the progress here is slow.
Pictured: Top Left: Erika at 4 months old still in the Neo Natal Unit getting a kiss from dad
Bottom Left: Erika's 1st Christmas, 6 months old
Right: Erika's first birthday
