Entries in Genetic Disorder (4)


What Is Trisomy 18?

Comstock/Thinkstock(NEW YORK) -- Trisomy 18, the genetic disorder that sent Rick Santorum’s daughter Bella to the hospital Saturday evening, kills about 90 percent of children before or during birth and those that do live past birth suffer serious symptoms.

Children with Trisomy 18, also known as Edwards syndrome, have an extra copy of chromosome 18, which causes symptoms like clenched hands, low birth weight, mental deficiency, small head and jaw, underdeveloped fingernails, and an unusual-shaped chest, according to the A.D.A.M. Medical Encyclopedia.

“They typically have cardiac problems—structural problems of the heart like holes between the right and left side. They have characteristically shaped heads—small heads but a big back of the head. They can have other central nervous system problems, muscle problems,” said Dr. Ronald Crystal, chair of genetic medicine at Weill Medical College of Cornell University in New York.

Tests can be done during pregnancy to determine if the child has Trisomy 18, according to the National Institutes of Health.

Crystal said the disease is “pretty severe.”

Half of infants with this condition do not survive beyond the first week of life, and the few children who survive to the teenage years have serious medical and developmental problems, according to the National Institutes of Health.

“It’s invariably fatal at some point, depending on the quality of care and the severity. Most of the kids die early, almost all by age 10. At age 3, [Bella's] already an exception,” Crystal said.

“Most children with Trisomy 18 die in the first three months of life, and only 10 to 20 percent survive past the first year. Those who survive are almost always girls,” said Dr. Robert Marion, Chief of Genetics and Developmental Medicine at Children’s Hospital at Montefiore and Albert Einstein College of Medicine.

The number of boys and girls conceived with Trisomy 18 is equal, but at birth, most males with the disorder have already died.

Copyright 2012 ABC News Radio´╗┐


Progeria Patients May Get Hope with New Research

Jupiterimages/Thinkstock(BOSTON) -- Doctors may be closer to finding a cure for patients with Progeria, an extremely rare and fatal genetic disorder which causes children to age eight to 10 times the normal rate, according to a new study published in Science Translational Medicine.

Progeria is caused by a protein called progerin which accumulates in cells much faster than the average rate.  But researchers found that a drug known as rapamycin slowed and even stopped the disease progression within the cells.

While the drug has only been tested in Petri dishes, scientists are excited about rapamycin's potential to treat the condition.

"Part of the problem with aging starts when debris is accumulating in the cells and it's not getting removed, and this particular drug is able to enhance the removal process," said Dr. Dimitri Krainc, lead author of the study.  "It would be too optimistic to say this could completely cure Progeria patients, but we're hoping that this drug could make these kids live longer with fewer complications."

Out of every four to eight million births worldwide, one child will be diagnosed with the condition.

Progeria patients appear healthy at birth, but soon after, parents and doctors begin to see signs of the condition.  Children with the disease are well below the average height and weight for their age.  Their head is disproportionately large for the face, they have a beaked nose, hair loss, a hardening of the skin and stiff joints.

Currently, the average lifespan of a Progeria patient is 13 years old.

"Lifespan can really range from 5 or 6 years to 22 years old," said Dr. Ted Brown, a pediatrician who has spent 30 years researching Progeria.  "In a typical course, by the time a patient gets to be 9 or 10, there is a hardening of the arteries, and they die of heart disease -- heart attack and stroke most typically."

The drug is already approved by the Food and Drug Administration as an antibiotic to fight rejection in organ transplant recipients.  Because it is already used for certain conditions, Krainc said this may allow for physicians to jumpstart clinical trials to test it as a treatment in Progeria patients.

Copyright 2011 ABC News Radio


Bart's Syndrome: Indiana Baby Born without Skin

ABC News(CHARLESTOWN, Ind.) -- Brody Curtis has a big smile across his face, about the only part of his little body that is not swaddled in thick bandages.  The one-month-old was born with Bart's syndrome, which means he is missing skin on much of his body and what skin he does have is fragile and can easily erode.

"He looked like he had third degree burns," said his mother, Heather Curtis, a 33-year-old high school math teacher from Charlestown, Indiana.  "The doctors could almost see his brain."

Bandages cover Brody's arms from his elbows to his fingers and from his knees to his feet, as well as around his skull.  It takes the Curtises about an hour to change the dressing and apply a salve, which they must do each day to prevent a life-threatening infection.

Bart's syndrome is a genetic condition that is part of a larger spectrum of inherited skin disorders called epidermolysis bullosa, according to the Mayo Clinic.  Its hallmark is a blistering response to minor injuries, heat or even rubbing or scratching.

Brody also has blisters inside his mouth and on his tongue, which is typical in patients with the disease.

Epidermolysis bullosa or EB strikes about 1 in 20,000 children and there are about 30,000 cases nationwide, half a million globally.  Bart's syndrome occurs just one in a million, according to Curtis.

Brody's doctors don't know if his skin will ever grow back, but they hold out hope that one day he could lead a normal life.

"We do know that different forms can cause early death in life and it can cause skin cancer," said his mother.  "Some people go on to be blind or have deformities in their bodies."

"But we just don't know," she said.

Heather and her husband Chuck, both healthy, are carriers of the genes that cause Bart's syndrome.  Their daughter Mckenna, 5, is also disease free.

Couples who carry the gene for the disease have a 25 percent chance of passing it on to their children.  Prenatal testing is available to couples before conception for families at risk.

There is no effective treatment for Bart's syndrome, other than bandages to avoid trauma and infections.  New molecular approaches are being developed including bone marrow transfers and fibroplast injections, according to Dr. Jouni Uitto, chair of the department of dermatology and cutaneous biology at Thomas Jefferson University in Philadelphia.

Copyright 2011 ABC News Radio


Three-Foot Tall Crime Fighter Overcomes Genetic Disorder

Sgt. Troy Guidry(SANTA ANA, Calif.) -- Being three-feet-two-inches tall doesn't stop Ryan Berger, 34, from taking on crime in Santa Ana, Califorinia.

Though he lives with a rare genetic disorder that leaves his bones brittle and requires him to use a motorized wheel chair, Berger has followed in his father's footsteps by joining local law enforcement.

Osteogenesis Imperfecta, a genetic disorder affecting the bones and connective tissue, prevents Berger from physically making arrests, but he does everything else an assistant detective might do -- from questioning suspects to testifying in court.

Berger hails from a "cop family."  His father John Berger is a retired detective for the Santa Ana Police Department and his brother, Mark Berger, currently works with the Anaheim PD.  Though he didn't originally intend to get into law enforcement (he studied computer science), Ryan Berger has been drawn into the family business.

"It keeps me off the streets and out of trouble," Berger jokes.

The Santa Ana PD made a few adjustments to office equipment to accommodate Berger, but otherwise, he does "everything most able-bodied people can do," says his supervisor Sgt. Troy Guidry.  "Mentally is where he's so tough -- his attitude with life.  That's why he fits in so well," Guidry adds.

Osteogenesis Imperfecta, also known as brittle bone disease, affects anywhere from 25,000 to 50,000 Americans, though the majority of cases are not as severe as Berger's.  More than half the cases of are the mild type 1, which includes bone fragility, slightly shorter stature and joints that are prone to dislocating, according to the Osteogenesis Imperfecta Foundation.  Many cases are so mild as to go undiagnosed.

For all types, the disease is characterized by a decrease in the body's production of collagen, which leads to varying levels of fragile bones, joint looseness, and other complications.

For those like Berger, who have type 3, symptoms are more severe and include a very small stature, incredibly fragile bones, and discoloration of the teeth.  Many patients with type 3 have a shortened life expectancy; either from lung problems or to disability-related accidents, says Dr. Jay Shapiro, director of the Bone and Osteogenesis Imperfecta Program at the Kennedy Krieger Institute in Baltimore.´╗┐

Copyright 2011 ABC News Radio

ABC News Radio