Imagine that, despite a baby being born with a rare and often fatal disease, the cure was born previously with the baby’s sibling.
Hurler syndrome is an inherited disorder where a child has a deficiency of a key enzyme needed to break down complex sugars (called glycosminoglycans.) The buildup of sugar results in progressive organ deterioration and ultimately, death in childhood. The symptoms may only appear after age 3 and after the brain has already undergone damage.
According to a study published in the Annals of Neurology, treatment of Hurler syndrome with umbilical cord blood transplantation before 9 months of age leads to normal cognitive development. Early transplantation also predicted better outcomes for language skills and adaptive behaviors. More specifically, children transplanted at 12-25 months of age functioned cognitively at a level 2 to 5.3 years below that of those transplanted at 4 months.
“The purpose of the study was to determine whether age at transplantation can predict cognitive outcomes,” says Maria Luisa Escolar, Associate Professor of Pediatrics at University of Pittsburgh School of Medicine. “This study highlights the importance of early detection of brain diseases in babies and infants when brain growth is the most accelerated in life, placing them at increased vulnerability for permanent damage.”
Parents can take two life-saving steps to spare themselves the fate of Hurler syndrome: newborn screening programs to diagnose the condition early on and then the transplantation of a sibling’s previously banked cord blood (assuming it does not have the genetic defect and matches in accordance with the requirements set by the transplant physician) before the baby is nine months old.
If you are asking yourself, should we store cord blood, the answer is now obvious. It’s often impossible to ascertain the future potential need for a baby’s cord blood stem cells. But the decision to do so can save that child’s life, or in the case of Hurler syndrome, a sibling’s life. The cost of cord blood banking pale in comparison to the life altering benefit cord blood stem cells can provide to another baby born with Hurler syndrome. You’ve only got one chance to store cord blood and its uses in regenerative medicine are only growing and growing. Cord blood contains all the normal elements of blood - red blood cells, white blood cells, platelets and plasma. But, it is also rich in hematopoietic (blood-forming) stem cells. These cells work in the case of Hurler syndrome by providing a critical source of the normal enzyme that is donated to the deficient cells, decreasing the accumulation of the complex sugars, gycosaminoglycans.
Newborn screening for neurodegenerative diseases can identify children before symptoms appear, giving the best opportunity for prompt intervention and optimal outcomes. And when the intervention is stem cells from cord blood banking, the outcome proves to be remarkable.
*The article in its entirety appeared in the November 2014, Annals of Neurology, Volume 76, Issue 5, pp 747-753. This synopsis is based on the abstract posted online on November 20, 2014 by Anita Srikameswaran, University of Pittsburgh.
Last Updated on: 07/19/2023 by Oleg Mikulinsky