This medical malpractice claim was filed in Baltimore City after genetic counselors negligently failed to test a victim's father to see if he was a carrier for Canavan's disease. It was filed in Health Claims Arbitration on February 14, 2018, and it is the 76th medical malpractice case filed in Maryland this year.
- Another Canavan's disease case filed just a few weeks later in 2018
A woman and her husband presented to the Institute of Maternal-Fetal Medicine at Sinai Hospital for genetic counseling. The woman had concerns about her carrier status for Canavan disease, a progressive and fatal neurological disease. She was also 40 years old, a somewhat advanced age for a pregnancy.
During the visit, a genetic counselor confirmed that the woman was a carrier for Canavan disease. In spite of the woman's positive test results, the genetic counselor said there was no need to test the woman's husband for the mutated gene because the disease was so rare. Most of the visit was spent discussing other genetic/maternal-fetal issues, even though no geneticist was present at the visit.
Five months later, the woman gave birth to a child with Canavan disease. The baby has severe cognitive and physical deficits requiring a feeding tube, physical therapy to address his low muscle tone, and continual check-ups with neurology, pulmonology, gastroenterology, ophthalmology, and a dietician. He will require extensive medical treatment and life care needs until he passes away from his disease.
If the husband had been properly counseled and tested, the couple would've learned that he was a carrier for Canavan disease. Therefore, their child had a 25% chance of being affected by the disease.Additional Comments
Children born with Canavan disease suffer from imperfect development of the myelin sheath, the fatty covering around nerve fibers in the brain. Over time, build up of chemicals causes the brain to become spongy. Symptoms appear early in infancy (3-6 months) and progress rapidly. They include mental retardation, loss of previously acquired motor skills, feeding difficulties, floppiness or stiffness in muscles, and an increasing head circumference. Children with Canavan disease do not crawl, walk, sit, or talk. Over time, they may have seizures, paralysis, blindness, or hearing loss. This is an awful disease for many children. Many tragically die before they are 4 years old.
According to the claimant's expert witness, a clinical genetics specialist, the genetic counseling record makes it clear that the couple was concerned about the husband's carrier status for Canavan disease. The records state that a discussion occurred about the "patient's husband's carrier screening options," but there is no detail about this discussion and it is never mentioned again in the genetic counseling records. Considering that the claimants' baby was born with Canavan Disease, it is highly likely that the conversation about carrier screening options never actually occurred.
People are more familiar with Tay-Sachs disease which involves a similar enzyme deficiency. Jewish people are at higher risk than the general population for both conditions as Canavan disease. American College of OB-GYN recommends that patients of Jewish background be tested for Canavan's disease.
This progressive, neurological disorder results in a very tragic outcome and, ultimately, death in childhood.
- Baltimore City
- Two genetic counselors
- Sinai Hospital of Baltimore, Inc. d/b/a Sinai Hospital
- Sinai Hospital
Failing to properly counsel the claimants on Canavan disease and the risk to their fetus.
Failing to properly inform and counsel the claimants concerning the importance of the information to be gained from the husband's genetic testing, including the opportunity for prenatal diagnosis.
As a direct result of the defendant's negligence, the child was caused to suffer painful and permanent injuries to his body and brain and incur significant financial losses.
- Jeff Milunsky, M.D., F.A.C.M.G., Clinical Genetics and Clinical Molecular Genetics
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