Hulus “Good American Family” tells the tragic story of Natalia Grace, a Ukrainian girl born with dwarfism adopted by an American family when she was seven. Natalia has specifically SpondyloepiFysian dysplasia congenitaA leg development disorder that causes people to have a short upper body, arms and legs.
But her story took a freaky turn when she adoptive parentsMichael and Kristine Barnett, accused her of being an adult who pretended to be a child. The couple also claimed that Natalia tried to hurt them and their children, claiming she was trying to poison Kristine’s coffee.
Barnetts had Natalia’s legal age changed to 22, moved her to an apartment and left her there, canceled all the contact. The couple met allegations of neglect of children, but eventually acquitted of the charges. DNA testing later showed that Natalia was in fact a child when she was abandoned.
The Hulu series tells the story from several views and raises many questions about spondyloepiphyseal dysplasia congenita during the process. Here is what a doctor who treats patients with the condition wants you to know.
Experts displayed in this article:
Stuart G. Mackenzie, MD, is an orthopedic surgeon at Nemour’s Children’s Hospital in Delaware.
What is spondyloepiphyseal dysplasia congenita?
Spondyloepiphyseal dysplasia congenita is a rare form of dwarf that causes someone to have a short upper body, short arms and short legs, per US National Library of Medicine. The condition specifically affects the legs of the spine and ends of the long legs in the arms and legs.
“In general, skeletal dysplasia conditions are causing problems with how cartilage and bones grow,” says Stuart G. MackenzieMD, an orthopedic surgeon at Nemour’s Children’s Hospital in Delaware. Spondyloepiphyseal dysplasia congenita causes a problem with the growth plate for some bones, leading to abnormal growth and form, he explains. “Patients with spondyloepiphyseal dysplasia congenita may also have visual and breathing problems,” says Dr. Mackenzie.
Diagnosis usually occurs before birth.
The condition can be detected on a prenatal ultrasound if the scan shows short arms and legs, says Dr. Mackenzie. Genetic testing through amniocentesis (a genetic test of amniotic fluid surrounding a child during pregnancy) or chorionic villus sampling (another prenatal diagnostic test) may confirm the diagnosis. But Dr. Mackenzie says that spondyloepiphyseal dysplasia congenita can also be diagnosed at birth by looking at certain functions and X -ray image.
The condition has distinct symptoms.
People with spondyloepiphyseal dysplasia congenita often experience some common symptoms, according to the US National Library of Medicine:
- An adult height between 3 feet and 5 feet
- An abnormal curve in the spine and instability of the spine in the neck
- Arthritis and joint mobility problems
- Problems with breathing due to weakness in the wind and a short, wide breast
- Facial functions, such as underdeveloped cheekbones, palate gap and a small lower jaw
- Eye problems, often ear infections and hearing impairment, according to Nemours
What causes spondyloepiphyseal dysplasia congenita?
Spondyloepiphyseal dysplasia congenita occurs due to a genetic mutation, causing a problem with the growth of the leg, says Dr. Mackenzie. It leads to abnormal bone plant and form, along with vision problems. The condition can be inherited or, more often, can happen from a new genetic mutation, according to Nemours.
How is spondyloepiphyseal dysplasia treated congenita?
The treatment depends largely on the person. Patients are usually regularly evaluated by a pediatric orthopedic surgeon, according to Dr. Mackenzie.
“As children and young adults, these patients may require surgery to correct their eyes, stabilize the neck, correct the curvature of the spine and rebuild the hip,” he says. “Many patients with spondyloepiphyseal dysplasia congenita require joint compensation as adults.”
Patients usually have a team of healthcare specialists, including an orthopedic surgeon, neurologist, ophthalmologist, ears, nose and neck doctoral and pulmonologist, according to Dr. Mackenzie. They will also often use a physiotherapist and occupational therapist. “Health problems can come up that must be treated directly,” he adds.
Although people with spondyloepiphyseal dysplasia congenita may end up with the medical community than others, they are still expected to have a long life.
“Patients with spondyloepiphyseal dysplasia congenita can live a normal and healthy life if they continue to monitor and treat any health problems that may arise and follow the activity restrictions that their physician has provided,” says Dr. Mackenzie.
Corin Miller is a writer specialized in general wellness, health and lifestyle trends. Her work has emerged in women’s health, herself, health, Forbes and more.
