Genomic Disorders & Trauma

Trauma and the Patient with Juvenile
Discogenic Disease

S.R. was a 37 year old farmer when was driving his pickup truck, unseatbelted, along a freshly tarred road. His vehicle lost traction, went off the road, and rolled over multiple times. S.R. was ejected from the cab and landed on freshly ploughed soil where the pickup then rolled over him. The pickup and the body impression in the soil (head depression marked in red) are shown below. S.R.'s MRI showed a pattern classic for Juvenile Discogenic Disease (JDD). By landing on a soft surface S.R. was lucky to simply survive this experience. He came out looking better than his pickup truck. His back problems, after the accident, were more severe because he was born with intervertebral discs which were not as strong as normal discs. Did this place him at higher risk for continuing problems? Yes indeed.

It takes a anatomically and metabolically "normal" spine to do well on a high gravity planet. Congenital abnormalities of development represent significant liabilities. The presence of a genomic abnormality suggests that others are present because of the "Zebra Principle" (if you see only one more a typically present because they travel in herds). The MRI image to the right shows a classic case of JDD. The "Zebra" in this case was a congenitally fused segment (red dot) where the disc did not form prior to birth. If trauma were to be directed to this spine this abnormality would represent a weak link and would be subject to greater insult.

In essence, those with genomic abnormalities of development are at greater risk for disability or incapacitation than the "normal" population. The challenge then relates to using this information appropriately under different circumstances. If one does not have a "normal" spine and is subject to repetitive stress does this represent a example of the legalese concept of the "Gillette Injury" or the "Paper-Thin Skull"?

At this time there are no databases upon which to predict the risk factors in individuals with JDD in regard to potential disability and incapacitation. One important reason for the absence of this information is the ubiquitous present lack of understanding among patients and physicians regarding genomic disease. G. K., a 41 year old maintenance worker injured his back lifting a manhole cover in 1998 and required a surgical discectomy. In 1999, again while lifting a manhole cover, he experienced the recurrent free-fragment disc herniation shown in the image on the left. This patient was never advised that he had an underlying genomic spine disorder, nor offered a health maintenance program to avoid future impairment and surgery.

This patient's 1998 his imaging report noted only a "herniated disc" and nothing more. He was thereby treated only as a "herniated disc" with no time spent in attempting to understand the reasons as to why the disc herniated in the first place.
		A.M., is a 36 year old world-class athlete who noted non-specific low back pain over a period of 4 years. After competing in a 130 mile adventure racing event he developed leg pain, numbness and weakness.

Prompt MRI evaluation revealed JDD and a very large non-contained disc herniation at L4-5 level (red dot). Clearly there had been a chronic contained disc herniation which then extruded a very large fragment. With additional disc herniation this patient could have suffered permanent foot drop or cauda equina compression.

Both cases shown above had good surgical management but in genomic spine disorders the surgery is the minor event. The major event is making the right diagnosis to start with so that the patient can be informed regarding the importance of continuing preventive care. In this regard not smoking and a daily self-administered health maintenance program with safe axial spine distraction/ traction are the key elements to retaining quality of life and avoiding additional surgery. The Burton experience has shown that individuals who are so apprised and provided with this information are typically able to maintain high-quality function and even to continue as professional athletes. The amount of time and effort invested in this is directly proportional to the quality of continued function. In many ways this investment is similar to a savings account. Most patients with underlying genomic spine disorders who are symptomatic have little reserve in their spine savings accounts. They build a balance by making daily deposits through a spine health maintenance. The larger the deposits the greater the potential expenditures being allowed by mother nature.