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Genetic Disorder

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NEWS
By William Lowe and William Lowe,SPECIAL TO THE SUN | May 15, 2000
Ian Dvornickyof Ellicott City is a study in perseverance and strength - characteristics not generally associated with someone who is 19 months old. Then again, healthy children are not well acquainted with adversity. Ian, in contrast, was hospitalized six times in his first seven months. Shortly after his birth, Ian's parents learned that he had Velocardiofacial Syndrome (VCFS), a common but not widely known genetic disorder. Estimates of incidence are as high as 1 in 2,000. VCFS has more than 180 associated characteristics.
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BUSINESS
By Natalie Sherman, The Baltimore Sun | July 12, 2014
The towering height that helped 20-year-old Isaiah Austin shoot to the top ranks of the NBA draft this year also was a symptom of the genetic disorder that, less than one month ago, ended his pro career before it began. But the 7-foot-1-inch Baylor University student counts himself lucky - at least it didn't end his life. Austin learned he has Marfan syndrome thanks to a blood test administered during the NBA draft process. Sometimes the diagnosis of the connective tissue disorder - which can cause the aorta, the main vessel that carries blood from the heart, to grow until it bursts - comes too late.
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NEWS
By Thomas W. Waldron and Thomas W. Waldron,Staff Writer | November 28, 1993
STRASBURG, Pa. -- It's nearing dusk in Pennsylvania Dutch country and Holmes Morton has come to make an unannounced house call on Henry Martin.Dr. Morton pulls his green Jeep into the barnyard, scattering a dozen chickens near a hay wagon hitched to two draught horses.Henry, a blue-eyed 22-month-old, runs to his father, Jesse Martin, who is talking to two of his brothers. The three men, who married three sisters, have almost identical faces and wear plain, dark fedoras."How is he?" Dr. Morton asks,still seated behind the wheel.
HEALTH
By Frank D. Roylance, The Baltimore Sun | April 22, 2011
There was something different about Marisa. "The moment she was born, she was blowing bubbles," recalled her father, Joel Easterly, 32. "Some of the nurses were saying, 'Wow!' They'd never seen that before. " Bubbles seemed innocuous enough. The pregnancy had gone well, the delivery was quick and Marisa was a healthy 6 pounds 4 ounces. But it was the first hint of an extremely rare medical ailment that has been reported in about 30 people worldwide. The problem, caused by a genetic deficiency, has exhausted the young family physically, emotionally and financially.
NEWS
By Jonathan Bor and Jonathan Bor,SUN STAFF | November 16, 2002
Babies conceived by in-vitro fertilization may be at increased risk for a rare genetic disorder that predisposes them to cancer, scientists reported yesterday. Scientists from the Johns Hopkins School of Medicine and Washington University in St. Louis tracked children born with Beckwith-Wiedemann Syndrome and found that an unusually large percentage were conceived by IVF. In the United States, fewer than 1 percent of all births were due to in-vitro. But when doctors tracked 63 children born with the genetic disorder - babies who were entered into a Beckwith-Wiedemann registry after June 2001 - they discovered that more than 4 percent were in-vitro babies.
NEWS
By Jonathan Bor and Jonathan Bor,Staff Writer | June 28, 1992
At an age when many kids are learning to multiply or decipher baseball box scores, Kyle Harper has learned to stand independently without dropping to the floor.Nearly 9 years old, he cannot talk but uses long vowel sounds -- like aaaaa -- to make his presence known. He probably will spend the rest of his life in diapers but has learned to demand a change by untaping them and stretching his T-shirt over his head.Kyle's parents, Joan and John Harper of Seaford, Del., have found contentment in his modest strides.
BUSINESS
April 30, 1992
Genetic Therapy Inc. of Gaithersburg said yesterday that it has obtained the right to a gene that could be used to treat a relatively rare genetic disorder that leaves patients with high cholesterol levels.The non-exclusive licensing agreement with the University of Texas System would allow Genetic Therapy, a biotechnology company, to advance its efforts to develop treatments for the more common forms of high cholesterol, which affect 47 million Americans.Patients with the genetic disorder, familial hypercholesterolemia, lack a gene that produces a low-density lipoprotein receptor.
BUSINESS
By Natalie Sherman, The Baltimore Sun | July 12, 2014
The towering height that helped 20-year-old Isaiah Austin shoot to the top ranks of the NBA draft this year also was a symptom of the genetic disorder that, less than one month ago, ended his pro career before it began. But the 7-foot-1-inch Baylor University student counts himself lucky - at least it didn't end his life. Austin learned he has Marfan syndrome thanks to a blood test administered during the NBA draft process. Sometimes the diagnosis of the connective tissue disorder - which can cause the aorta, the main vessel that carries blood from the heart, to grow until it bursts - comes too late.
FEATURES
February 26, 1995
A Great ServiceEditor: I really appreciated the article in the Jan. 15, 1995 edition of the Sun Magazine ["The Mattingly Mystery"] about the genetic nerve disorder in the Mattingly family. I think it is very helpful to learn about situations which affect Maryland people and it is very encouraging to know what is being done that may resolve [the] problems.As an avid genealogist, I enjoy reading about genealogy, but I was particularly interested in that article because I am related to the Mattinglys on my mother's side of the family.
HEALTH
By Frank D. Roylance, The Baltimore Sun | April 22, 2011
There was something different about Marisa. "The moment she was born, she was blowing bubbles," recalled her father, Joel Easterly, 32. "Some of the nurses were saying, 'Wow!' They'd never seen that before. " Bubbles seemed innocuous enough. The pregnancy had gone well, the delivery was quick and Marisa was a healthy 6 pounds 4 ounces. But it was the first hint of an extremely rare medical ailment that has been reported in about 30 people worldwide. The problem, caused by a genetic deficiency, has exhausted the young family physically, emotionally and financially.
NEWS
By Sara Neufeld and Sara Neufeld,SUN STAFF | March 12, 2004
Erin Williams was born without external ears, cheekbones and eye sockets, and with very little lower jaw. At 17, she has endured 44 operations. For her physical struggles and her friendship with Cher, who played the mother of a boy with similar facial deformities in the movie Mask, the Essex girl found her way into newspapers and People magazine, and on to a daytime talk show. Now, however, Erin is stepping into the spotlight on her own, not because of her rare genetic disorder but in spite of it. She is on track to graduate seventh in her class of 200 this spring at Chesapeake High School.
NEWS
By Jonathan Bor and Jonathan Bor,SUN STAFF | November 16, 2002
Babies conceived by in-vitro fertilization may be at increased risk for a rare genetic disorder that predisposes them to cancer, scientists reported yesterday. Scientists from the Johns Hopkins School of Medicine and Washington University in St. Louis tracked children born with Beckwith-Wiedemann Syndrome and found that an unusually large percentage were conceived by IVF. In the United States, fewer than 1 percent of all births were due to in-vitro. But when doctors tracked 63 children born with the genetic disorder - babies who were entered into a Beckwith-Wiedemann registry after June 2001 - they discovered that more than 4 percent were in-vitro babies.
NEWS
By Frank D. Roylance and Frank D. Roylance,SUN STAFF | February 8, 2002
If Darwin was right, and evolution relentlessly weeds out genetic traits that impede a species' survival, then why are a quarter of adult Europeans and 90 percent of Asians unable to digest milk products - a rich, year-round source of protein and energy? Why are 3 percent of American children struggling in school, distracted by attention deficit hyperactivity disorder? Why does one in every 28 people of European descent carry the gene for cystic fibrosis? Scientists don't yet have all the answers.
NEWS
By Lisa Respers and Lisa Respers,SUN STAFF | April 4, 2001
Scott Summe's face draws people's attention, but it's his personality that holds it. Scott, 16, of Columbia, has Crouzon's syndrome, a rare genetic condition that causes skull bones to fuse before birth. And while his appearance sometimes causes stares, his jovial manner has landed him many admirers and a spot representing Maryland as one of the Children's Miracle Network's Champions Across America. "He's a great kid," said David Norton, vice principal at Mount St. Joseph High School in Baltimore, where Scott is a sophomore.
NEWS
By William Lowe and William Lowe,SPECIAL TO THE SUN | May 15, 2000
Ian Dvornickyof Ellicott City is a study in perseverance and strength - characteristics not generally associated with someone who is 19 months old. Then again, healthy children are not well acquainted with adversity. Ian, in contrast, was hospitalized six times in his first seven months. Shortly after his birth, Ian's parents learned that he had Velocardiofacial Syndrome (VCFS), a common but not widely known genetic disorder. Estimates of incidence are as high as 1 in 2,000. VCFS has more than 180 associated characteristics.
NEWS
By Jamie Smith and Jamie Smith,CONTRIBUTING WRITER | January 6, 1997
Craig Allan Warnick, who pursued an active life despite a struggle with a little-known hereditary cancer called von Hippel-Lindau disease or VHL, died of the illness Thursday at Johns Hopkins Hospital. He was 40.Mr. Warnick was 18 and a high school senior when he developed a brain tumor, although his condition was not diagnosed for four years.VHL is a relatively rare genetic disorder that produces tumors, primarily in the eyes, brain, spinal cord, kidneys and adrenal glands, and affects vital functions such as coordination.
NEWS
By Jamie Smith and Jamie Smith,CONTRIBUTING WRITER | January 6, 1997
Craig Allan Warnick, who pursued an active life despite a struggle with a little-known hereditary cancer called von Hippel-Lindau disease or VHL, died of the illness Thursday at Johns Hopkins Hospital. He was 40.Mr. Warnick was 18 and a high school senior when he developed a brain tumor, although his condition was not diagnosed for four years.VHL is a relatively rare genetic disorder that produces tumors, primarily in the eyes, brain, spinal cord, kidneys and adrenal glands, and affects vital functions such as coordination.
FEATURES
February 26, 1995
A Great ServiceEditor: I really appreciated the article in the Jan. 15, 1995 edition of the Sun Magazine ["The Mattingly Mystery"] about the genetic nerve disorder in the Mattingly family. I think it is very helpful to learn about situations which affect Maryland people and it is very encouraging to know what is being done that may resolve [the] problems.As an avid genealogist, I enjoy reading about genealogy, but I was particularly interested in that article because I am related to the Mattinglys on my mother's side of the family.
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