There is a condition so rare, it is believed only 250 people in the entire world have it. Two children in Louisiana have "Alfi's Syndrome," including a three-year-old boy in Iowa.
In this Faces of Rare Disease, we introduce you to Landon Nazworth and find out how this chromosomal condition affects his daily life.
It is snack time in the Nazworth home and three-year-old Landon signs what he wants: "cookies," followed by a "thank you."
Speech is challenging for Landon, but the fact that he can understand and communicate with his family is already beating the expectations Kristen and Nathan were given from a New Orleans geneticist after their son's diagnosis of Alfi's Syndrome. "He said, 'Don't expect much. Don't expect him to know who you are, if he walks he'll be 10, 11 years old. He probably won't talk," said Kristen.
Alfi's Syndrome is also called Chromosome 9p deletion, because some of the genetic material on the short arm of chromosome 9 is not there, causing medical problems from head to toe. Dr. Juan Bossano is a neonatologist at Lake Charles Memorial Hospital for Women, who treated Landon in the neonatal intensive care unit. He describes how Alfi's Syndrome affects those diagnosed, "Typically a low IQ, they have a mental handicap, they have learning disabilities and the severity of that depends on the case, it varies from patient to patient."
It was Dr. Bossano that had to break the news about Landon's genetic test results, showing Alfi's Syndrome. "He said, 'I don't know how to tell y'all this, but your baby has deletion 9p syndrome,'" said Nathan, "and he handed us a paper with a few paragraphs on it."
The Nazworths saved that piece of paper they were given as they left the hospital that day, detailing the disorder - from facial disfigurement and genital abnormalities to mental delay. "Those are all the characteristics that he had," said Nathan.
The diagnosis was a shock, with no red flags during the pregnancy. "You're just scared," said Kristen, "why is he going through this when everything was perfect through the pregnancy."
As Kristen and Nathan started learning more about Alfi's Syndrome, the big question was one two parents never want to ask. "What's his future? What's the life span?" said Kristen.
That is still a question without a solid answer, but the Nazworths have come across diagnosed adults in their 30s and 40s.
Landon's health issues have already been serious, even at a young age: collapsed lungs, heart problems, kidney repair, back surgery, dental surgery and cranial stenosis surgery. "He wants to be so much like the other kids and he tries his best to do everything that they're doing," said Kristen.
Landon has big brother Jackson and little sister Katie to challenge him. Kristen and Nathan have found support through the "Chromosome 9p Minus Network," connecting them to other families around the world raising these special children.
"God gives these babies to special people," said Kristen, "I feel blessed to have Landon in our lives and I wouldn't change anything about it."
"He's really opened my heart up to other families that are going through problems," said Nathan, "and a lot of families are worse off than us and we realize that now. We're just thankful that Landon is the way he is and wouldn't give him up for anything."
Alfi's Syndrome is caused by a spontaneous mutation when cells are dividing in utero. It is very difficult to make a diagnosis before the child is born.
Tune in for Tuesday night's Healthcast on Duchenne Muscular Dystrophy, a fatal disease that causes young men to become prisoners in their own bodies. You will meet a 19-year-old who says he is still blessed in spite of those circumstances.