Early Diagnosis often missed with CHARGE
Abby Potash
Issue date: 5/10/10 Section: Op-Ed
Diagnosis often missed with CHARGE syndrome patients
On a cold winter day in December of 2004, Crystal Masionis and her husband Dan headed to their doctor's office for an ultrasound. Shortly thereafter they would be hearing news equal to a parents worst nightmare. The doctor proceed to tell them they should begin planning a funeral for their unborn child. During the level 2 ultrasound the doctor found several indicators that the baby had multiple medical issues and based on test results, he believed that their child would not make it past the birth.
Despite all odds, Eva Nichole, turned 5 on April 11th of this year. The last 5 years have been challenging to say the least, but each and every day is counted as a blessing for Eva, Crystal and her family. Eva was diagnosed with CHARGE, a syndrome that involves multiple genetic disorders being present at birth. Children with CHARGE syndrome have a high mortality rate with some succumbing to death within the first three years, and at the age of 5 years, these children only have a 70% survival rate.
Diagnosis can often be missed due to the rarity of the disorder, and testing for the gene scientists believe is specifically associated with CHARGE can cost upwards of $2400. Besides the obvious issue with the affordability of this test that is not covered by insurance, only 67% of cases tested show a mutation of gene CHD7, the gene believed to be associated with the syndrome.
The name originated in 1981 from the common disorders presented in patients, but is no longer used as a reference for diagnosis. CHARGE is an acronym for coloboma of the eye, central nervous system anomalies, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary defects, and ear abnormalities and deafness.
Parents of children suffering from the syndrome came together in 1982 to form the CHARGE Syndrome Foundation in Columbia, Missouri. With funding from the Quota Club of Columbia they quickly went to work on putting a booklet together of resources for parents. In 1989 they published their 1st newsletter, which is now printed 4 times a year and distributed to all 400 members of the organization.
On a cold winter day in December of 2004, Crystal Masionis and her husband Dan headed to their doctor's office for an ultrasound. Shortly thereafter they would be hearing news equal to a parents worst nightmare. The doctor proceed to tell them they should begin planning a funeral for their unborn child. During the level 2 ultrasound the doctor found several indicators that the baby had multiple medical issues and based on test results, he believed that their child would not make it past the birth.
Despite all odds, Eva Nichole, turned 5 on April 11th of this year. The last 5 years have been challenging to say the least, but each and every day is counted as a blessing for Eva, Crystal and her family. Eva was diagnosed with CHARGE, a syndrome that involves multiple genetic disorders being present at birth. Children with CHARGE syndrome have a high mortality rate with some succumbing to death within the first three years, and at the age of 5 years, these children only have a 70% survival rate.
Diagnosis can often be missed due to the rarity of the disorder, and testing for the gene scientists believe is specifically associated with CHARGE can cost upwards of $2400. Besides the obvious issue with the affordability of this test that is not covered by insurance, only 67% of cases tested show a mutation of gene CHD7, the gene believed to be associated with the syndrome.
The name originated in 1981 from the common disorders presented in patients, but is no longer used as a reference for diagnosis. CHARGE is an acronym for coloboma of the eye, central nervous system anomalies, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary defects, and ear abnormalities and deafness.
Parents of children suffering from the syndrome came together in 1982 to form the CHARGE Syndrome Foundation in Columbia, Missouri. With funding from the Quota Club of Columbia they quickly went to work on putting a booklet together of resources for parents. In 1989 they published their 1st newsletter, which is now printed 4 times a year and distributed to all 400 members of the organization.
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