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Fumarase Deficiency : Beating the Odds

“Someone I love endures pain and challenges that break my heart and renew my spirit at the same time. Someone I love is unable to advocate for themselves for things that most of us take for granted. Someone I love will never have the opportunities that every child should have. Someone I love encounters pity, stereotyping responses, and prejudice at every turn, because they look, act, and/or learn differently than others.”

What do you do when someone you love is affected by a disease that has no cure, that has little clinical research available, and that takes the life of most children who inherit this disease?

I want to provide readers with information about fumarase deficiency in hopes of raising awareness.

Fumarase deficiency is caused by a lack of the fumarase enzyme, an essential component in a biological process called the Krebs cycle, which converts food into energy within each cell. This is a an extremely rare type of mitochondrial disorder.

Fumarase Deficiency is an enzyme irregularity that interferes with the cells ability to transform food into energy. Not enough of the fumarase enzyme can lead to severe mental retardation and physical deformities.

Fumarase deficiency is suspected in infants with findings that include severe neurologic abnormalities, poor feeding, failure to thrive, and hypotonia. Many children with fumarase deficiency do not survive infancy or die in childhood.

Doctor’s say they can only treat the complications of the disorder. Once a baby is born with the condition, they really can't treat the underlying disorder. It causes a wide variety of devastating symptoms such as severe mental retardation, epileptic type seizures, physical deformities and can leave the patient unable to care for themselves.

Fumarase Deficiency is an enzyme deficiency so rare that only 45 cases have been documented in the last 20 years because of lack of research in this area there is no treatment much less a cure. Statistics on this disorder reveal that half of the children diagnosed died before their first birthday the other half have severe disabilities, all are profoundly mentally retarded. Some fumarase deficiency children develop a small degree of motor skills over time: They don't remain infantile their entire life. They do develop to some degree, but it's way behind their peers.

Awareness needs to be raised for this disease. There isn’t much research being done to find a cure for fumarase deficiency and it’s a huge tragedy to many children and their families effected by this disease.

For more information on this horrible disease, feel free to visit www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gene.chapter.fum

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