RIYADH, 22 July 2004 — The Prince Salman Center for Disability Research (PSCDR) has been playing an important role by screening newborns to detect and prevent metabolic and endocrine diseases to ensure that they will live a normal and meaningful life.
To ensure its activities continue, Prince Sultan ibn Salman, PSDRC board chairman, signed agreements with the King Faisal Specialist Hospital and Research Center, King Fahd National Guard Hospital, Military Hospital, Security Forces Hospital, Ministry of Health and King Saud University Hospital.
“Under the agreement, each hospital will acquire blood samples which will be delivered to screening laboratories at the KFSH for analysis and interpretation,” said Waleed Al-Deaigy, PSCDR assistant executive director for media affairs.
The results will be used to develop a national registry and database through which doctors can ascertain the incidence of these diseases, their causes and spread in Saudi Arabia.
“This information could be used to develop effective treatment and prevention programs, genetic counseling programs, and public information and dissemination programs in the Kingdom,” Al-Deaigy said.
Preliminary statistics indicate that the Kingdom has a greater frequency of these diseases compared with the populations of the US, Australia, Germany and Japan.
Al-Deaigy said that current but limited evidence suggests that screening newborns in the Kingdom would save 400-500 children a year.
Al-Deaigy hoped that the program would produce additional benefits, particularly a national and comprehensive screening program for infants that would lead to the detection of a wide range of children’s diseases.
Stressing the importance of PSCDR’s screening program, Al-Deaigy cited the case of the two Zacharys in the US.
Zachary Wyvill was born with a very rare enzyme deficiency that left him unable to eat on his own or crawl. A month later, another child named Zachary Black was born with the same genetic disorder in a hospital 90 kilometers to the east.
The two Zacharys’ disorder — glutaric academia type 1(GA1) — results from a genetic condition so uncommon it strikes only one in about 75,000 infants. If not identified in the first six to nine months, the GA1 gene mutation kills brain cells and cripples muscles.
Zachary Wyvill’s condition was not detected because his blood was not screened. By the time doctors recognized his problem, he was already severely disabled, probably for the rest of his life.
Though he is quick to smile and respond to conversation, he can barely move his arms and legs or even lift his head. Daily nourishment is provided by fluid fed through a thin tube into his stomach.
Zachary Black is a healthy one-year-old, thanks to a newborn screening project carried out in California hospitals from January 2002 to July 2003. His disease was detected and has been kept in check with a special diet and vitamins.
“We’re proud that newborns here in the Kingdom will all be screened,” Al-Deaigy said, quoting Prince Sultan ibn Salman.
“By some US government and medical estimates, the lack of standardized newborn screening is responsible for the illness and death of several thousand children every year. The cost of treating and caring for children who suffer from these rare diseases can range from $500,000 to $1 million a year,” Al-Deaigy said, citing statistics published by the US Centers for Disease Control and Prevention.
