The above is the title of a scientific article in the Journal of Pediatric, Maternal & Family Health published on August 24, 2017. Type 2 Gaucher disease is a rare and fatal genetic disorder that occurs in infants. Although the condition is not reversible, this case study speaks to an improvement in the quality of life of an infant afflicted with this condition.
According to the National Institutes of Health, Genetic and Rare Diseases Information Center “Gaucher disease type 2 is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and brain. Liver and spleen enlargement are often apparent by 3 months of age. Patients typically develop extensive and progressive brain damage and many die by 2 years of age.”
In this case, a mother brought her 8-month-old son to a chiropractor to see if her baby could be helped. The infant had been diagnosed by a geneticist at the age of 3 months with neuronopathic Gaucher disease. His mother reported that her baby son had been constantly sick and she rated his discomfort level as between 8 and 10 using the Visual Analog Scale (VAS) with 10 being inconsolable.
According to his mother, the infant was also suffering with fever, excessive pulmonary secretions, difficulty breathing, vomiting after feedings, diarrhea with creamy green stools, and his head has been in constant extension for at least two months. She had been told by the medical doctor that her son was in a Failure to Thrive (FTT) category.
A chiropractic examination was performed which showed spastic muscles of the neck as well as decreased tone of extremity muscles. The baby could not flex his head forward and his right eye was turned inward. It was determined that multiple areas of subluxations in the baby’s spine were present.
In this particular case, the infant was adjusted using an instrument to give a precise adjustment to the vertebrae determined to be subluxated. The child’s status was recorded each visit to look for any changes in the variety of issues the baby was suffering from. The goal of the care was to see if subluxation correction could bring about a decrease in the symptoms while increasing in the baby’s quality of life.
The study noted in the outcome section that the baby became visibly more active, had more control over his body and his torticollis had substantially reduced. There was also an increase in the range of motion of the baby’s neck and he was able to slightly flex his extremities, something he could not do previously.
It was also observed that, as a result of the chiropractic care, the infant’s breathing had improved and his right eye had improved in both position and control. The boy showed more facial expressions than before and he showed an increased in tongue movements.
Although the long-term outcome for this child would not be affected, the short term quality of life for this baby was improved. The authors noted in their conclusion, “The development of medical treatments for extremely rare conditions may of necessity lag behind those of the more common. Our findings suggest that chiropractic may provide some relief for the effects of neuronopathic Gaucher disease.”