by Kimberly Allen, RN
The medical term for Krabbe disease is globoid – cell leukodystrophy. It is one of those ‘rare’ genetic disorders that you don’t hear about until someone you know is diagnosed. Krabbe disease is an autosomal recessive disorder, which means you have to receive a mutated gene from each parent to develop the disorder. In the US around 1 in 100,000 live births develop Krabbe disease. However, estimates are that there are over 2 million people that are carriers of Krabbe disease in the US. It wasn’t until Hunter Kelly, son of Buffalo Bills QB Jim Kelly was diagnosed with Krabbe disease in 1997 that more people even became aware that the disease even existed.
Children that inherit the mutated gene that causes Krabbe disease are missing an important enzyme called galactocedrebrosidase or GALC. GALC is necessary for the production of the myelin that coats and protects the brain and central nervous system. Also, when the GALC enzyme is missing the globoid cells produce toxins in the brain which causes brain cells to change as well as loss of myelin and neurological damage. The myelin is necessary for the nerve impulses to travel between the brain and the nerve cells. Without the myelin coating the signals are either significantly slowed down or stopped all together. If those signals become slowed or stopped the child will develop problems with learning and memory as well as speaking and understanding speech in addition to other mental functions.
Krabbe disease is generally categorized into two main types; early or infantile onset and late onset which usually develops in juveniles or adults. Approximately 90% of all cases of Krabbe disease is early or infantile onset with symptoms usually manifesting between 2 to 6 months of age. The symptoms of Krabbe disease develop in stages. In stage 1 the child will cry excessively and be generally irritable, he/she will also demonstrate stiffness and a significant delay in motor as well as mental development. The child will also loose the ability to perform milestones already achieved, have difficulty feeding and many have seizures. In stage 2 the child may demonstrate a pronounced arching of their back as well as involuntary flailing of their arms and/or legs. Children in this stage also demonstrate an accelerated decline in mental and motor function. the generally leads to them being fed through a tube in their stomach. In stage 3 the child loses all mental and motor function, they become blind and deaf and are no longer able to move or speak. In late onset Krabbe disease the neurological symptoms are delayed until middle childhood, adolescence or adulthood.
Unfortunately Krabbe disease is a fatal condition with most children diagnosed with the disease dying by the age of two. However, with funding from organizations like Hunters Hope Foundation research into treatments has produced some results. There has been some success in treating the disease with either bone marrow or cord blood transplants. When a child with Krabbe disease receives a transplant the new healthy cells are able to produce the GALC enzyme that is missing. However, because it takes months for the transplanted cells to produce sufficient healthy cells that are able to correct the damage people diagnosed with late onset Krabbe disease have better results than those with early or infantile onset Krabbe disease because their symptoms progress more slowly. Transplants in babies with early onset Krabbe disease are most effective if done early, with in the first 2 months after symptoms appear.
If someone you know is diagnosed with Krabbe disease there is more hope today than in the past and with continued research there will be more and better treatments in the future. For information on current treatments and studies you can ask your Dr or check with various organizations like Hunters Hope Foundation on line.
Kimberly Allen is a registered nurse with an AND in nursing. She has worked in ACF, LCF and psychiatric facilities, although she spent most of her career as a home health expert. She is now a regular contributor to HealthAndFitnessTalk.com, dispensing advice and knowledge about medical issues and questions. You can reach her with any comments or questions at email@example.com.