‘Tina’ has been a mother of two children with rare disabilities, and prefers anonymity to protect her children’s identities. Living near Phoenix, Arizona, she reads ‘Disabilities’ in The Desert Advocate.
‘My 27-year-old son ‘Bill’ has Greig caphalopolysyndactyly syndrome (GCPS),’ said Tina in a telephone interview. According to a National Institutes of Health (NIH) website, GCPS is ‘a disorder that affects development of the limbs, head, and face.’ People with it may have extra fingers and toes or skin fused between the digits, an abnormally large head, and mental retardation, seizures, and developmental delay.
Said Tina, ‘He also had immature lungs and hydrocephalus, and has kidney problems and asthma.’ Because of having GCPC, Bill participated in the Human Genome Project, which identified all the genes in human DNA. Researchers were able to isolate his genes causing the disorder. He currently lives at home, has learning disabilities, and has trouble holding employment.
When Bill was younger, said Tina, ‘other kids often would beat and kick him on his way home from school. So we put him in karate lessons for his self-esteem. He also had to learn how to protect his brain shunt (for hydrocephalus) because he was getting blows to the head. Occasionally he still experiences physical abuse (due to his disability).’
Tina’s other child is 12-year-old ‘Sarah,’ who was born with Turner syndrome, which NIH reports is ‘a genetic condition occurring only in females.’ It is characterized by a missing or incomplete X chromosome, which may result in very short height, a webbed neck, absent puberty, and drooping eyelids. It’s treated in part by growth hormone shots and estrogen replacement therapy. Sarah also has asthma and a learning disability.
Though friendly and sweet, Tina said, ‘Sarah might have only one school friend. Recently, there was a birthday party nearby of a person in her class. Sarah was troubled because she wasn’t invited.’
Although Bill is occasionally abused and Sarah ignored by peers, both of them still would enjoy having more friends, said Tina. The two seem content spending quiet evenings at home.
Due to her children’s struggles, Tina has become an advocate for people with disabilities. She and her husband have been married 31 years, with both of them losing their mothers at young ages due to cancer. They credit their strong marriage to ‘love and commitment’ and their Catholic faith.