Cerebral Palsy Diagnosis Turned Out To Be Wrong

Last month the Washington Post published a unique story that shared the tale of one family’s struggle to figure out what plagued their son. The case is a testament to the complexity that remains in many birth injury situations.

Assumed Cerebral Palsy
The boy in the case was born prematurely. He was born six weeks earlier than planned in 1999 via Cesarean section. The mother experienced preclampsia–hypertension caused by the pregnancy. The complications led doctors to call for the emergency surgery to have the baby born immediately.

However, it wasn’t until several years later, when he was five, that his parents became concerned about some physical issues. In particular, he seemed to have an awkward gait. After visiting with medical professionals, the family was told that the problem was likely a sign of mild cerebral palsy that developed as a result of his premature birth. Many local families have experienced similar issues, with an early birth causing CP.

At first, the child responded well to tailored interventions and therapy. He was able to master many different motor skills, from walking and jumping to writing in cursive.

Sadly, the positive trajectory did not last. Over time the parents noticed a range of other physical and movement issues, and as hard as he tried, the child wasn’t able to improve as quickly as he had in the past. A few years later even more problems developed: headaches and slight scoliosis.

Re-evaluating the Condition
Eventually he was re-evaluated by other professionals to figure out what was truly wrong–cerebral palsy no longer seemed to fit. Cerebral palsy is not a progressive condition, and the fact that the boy’s gait seemed to worsen suggested that something else was amiss.

After much more research and visiting with many neurological specialists, the boy’s true condition became apparent. Known as Friedreich’s ataxia (FA), it refers to a condition where the nerves in the spine degenerate and there are problems in the brain with the part that controls movements and balance. The condition was first diagnosed in the 1800s by a German doctor–the condition is much more prevalent among those in Europe. In recent years, medical experts have been able to pinpoint two genes–inherited from both parents–that cause the problem.

The news was understandably devastating for the family. As it is a genetic issue, there are currently no effective treatments. The average lifespan of children with FA is 38 years old, and the overall complications that develop in each patient vary considerably. The family is holding out hope that various treatments might be developed in the next few decades which might prolong the young boy’s life.

This tragic case is heartbreaking, but a reminder of the need for all families to be incredibly vigilant about developmental issues in their children. It is also a reminder that all of us should be aware of the many different issues that affect even our youngest community members. There is still so much work that needs to be done to develop treatments that might save or improve the lives of children with many different conditions. We encourage everyone to take opportunities to help, perhaps by donating time or money to causes which are working to find cures for children facing intimidating odds.

See Other Blog Posts:

Defending the Justice Rights of Those Harmed By Preventable Errors

Birth Injury Case at Center of U.S. Supreme Court Deliberations

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