Nancy and Daniel have a six year old little girl named Avianna. When Avianna was a few months old, Nancy and Daniel started noticing that she wasn’t reaching milestones that other babies of the same age were. They started Avianna in physical therapy and she was still not progressing, so they were urged to see a geneticist and neurologist. It took doctors almost three years to diagnose Avianna with a variation of what is known as PPP2R5D. This condition is so rare that there are only 28 known cases in the world.
Avianna has severe scoliosis, low muscle tone and speech issues, so she has multiple therapies to attend in and out of school. Nancy and Daniel say that Avianna is a fighter who is always smiling and if it weren’t for her, they would not have been able to advocate and raise awareness for such a rare condition.
During Ileana’s 20 week ultrasound, doctors discovered her baby girl, Giselle had ventriculomegaly. Ileana and her husband Lorenzo were offered termination as an option, but they decided to continue with the pregnancy.
The first six weeks of his life, their son, Spencer, had three major surgeries to repair his esophagus and trachea. It was not until Spencer was 11 years old, that he was diagnosed with CHARGE syndrome. This syndrome can cause different issues in different children, such as heart complications, a cleft palate and/or lip, growth issues, and more. For Spencer, it has caused him to be deaf, visually impaired, and have hypertonia, or poor muscle tone.
Beth and Bryce have a son named Smith. After Smith was born, Beth noticed that he would not look at her. Over the next few years Beth and Bryce noticed more developmental issues; Smith could not walk or use his hands or talk. Smith was nearly three years old before he was diagnosed with Angelman syndrome.
Christine’s daughter Skylynn was diagnosed at 2 years old with Autism. When Skylynn was first diagnosed, Christine found out that neither her insurance company or the state she lived in would cover the cost of Autism therapies. Christine began to fight for insurance reform and has a truly inspiring story of her journey to getting legislation to pass that insurance companies be required to cover Autism therapies. Skylynn is now nine years old and although she is considered to be severely Autistic, she has changed her mother’s life for the better.
Blanche is a woman in her mid-70’s whose husband had passed in recent years. Blanche has a grandchild named Bobby who came to live with her when he was six years old. Blanche noticed Bobby’s problems, but did not realize the extent of them until he started living with her. A definitive diagnosis of being on the Autism spectrum was not made until Bobby was in his 20’s. Raising her grandchild has proven to be difficult, however, Blanche has found joys in the changes of her life.
Lisa and Steven have a son named Matt who has Epilepsy and and a developmental delay. When Matt was six, he had his first Grand Mal seizure; his parents took him to the doctor where he was then diagnosed with Epilepsy. Lisa and Steven describe Matt as a loving and gifted child; he is affectionate and has a desire to please others.