Failure to Diagnose Fragile X Syndrome and Misdiagnosis Represent Two Serious Forms of Medical Malpractice, and Those who Suffer this Fate May be Entitled to Compensation.
In today’s technologically advanced society, doctors have various options to prevent and diagnose illness. In obstetrics, these technologies help anticipate and diagnose inherited diseases. Genetic testing and thorough medical histories are two ways to determine the chances that a child will inherit a debilitating illness, such as Fragile X syndrome. When physicians negligently fail to diagnose an inheritable condition, they deprive a parent of the choice to terminate their pregnancy or the opportunity to prepare for a life-long disabled child. In these instances, parents and their children may have grounds to file a wrongful birth lawsuit seeking compensation from the negligent medical professionals who are responsible.
Fragile X Syndrome: The Basics
Fragile X, or Martin-Bell syndrome, is inherited from one or both parents. The X gene defects get passed down to children with learning disabilities and cognitive, speech, and language delays early in childhood. Other symptoms include anxiety, hyperactivity, attention deficit disorder (ADD), seizures, mood disorders, and autism spectrum disorder. Physical signs of the disease include elongated, narrow faces, disproportionately large ears, flat feet, slack muscles, loose joints, and prominent jaws and foreheads. Males, predominantly affected by the condition, may have enlarged testicles beginning in adolescence.
Inheritance of Fragile X Syndrome
In fragile X, the FMR1 gene is defective. FMR1 produces a protein critical to neurological health, so when that protein production is suppressed by the CGG triplet repeat, a DNA segment that expands within FMR1, the result is Fragile X. When the CGG triplet repeat occurs more than usual, 5 to 40, then the symptoms may vary in those affected. For example, some may not suffer intellectual impairment but still have physical or emotional symptoms.
Lifetime Consequences of Fragile X Syndrome
Those with fragile X face a lifetime with symptoms that may be eased with medications, such as antidepressants, anti-seizure medication, and ADD medication. However, it is an incurable disease. Thus, children with the condition face a lifetime of intellectual deficits, seizures, and social challenges. Parents of fragile X children face financial and emotional pain.
Symptoms of the disease become most prominent by age three, so a pediatrician may diagnose Fragile X then. However, definitive diagnoses come from chorionic villus sampling (CVS) and amniocentesis, genetic tests performed on pregnant women to detect inheritable diseases. Importantly, a couple may get tested for being carriers before pregnancy.
Testing for Fragile X Syndrome Before and During Pregnancy
A carrier test may yield four different results. A negative test result means you do not have the mutated FMR1 gene, so your baby will not have fragile X. An intermediate test result means that your baby will not get fragile X, but future generations might. Premutation means you carry the defective FMR1 gene, so your baby may get fragile X. When you test premutation, your doctor should run prenatal genetic tests to see whether your baby has the disease. And when a full mutation is the result, you are a carrier, and you run the risk that your baby will have fragile X. Again, prenatal testing is standard protocol for carrier patients or those with a medical history that may suggest fragile X.
Women with fragile X in their family history should take the carrier test. Even if cognitive disability and fragile X-related conditions run in the family, a woman intending to get pregnant or who is pregnant should be screened for the disease. And while non-invasive prenatal screening for genetic defects is standard protocol for all pregnant women, physicians recommend more invasive genetic testing for women with family history of genetic disorders or older mothers.
One such genetic test, amniocentesis, occurs typically between 16 to 20 weeks into the pregnancy, whereas CVS occurs at 10 to 13 weeks to determine whether the fetus has the fragile X gene. Both are performed by a needle extracting placental cells or amniotic fluid. However, other genetic tests are available, too, such as cell-free fetal DNA testing.
Types of Malpractice with Fragile X Syndrome
While doctors may not recommend amniocentesis or CVS to all patients, they would be negligent not to mention the genetic testing option to patients with a history of fragile X or with test results that suggest they are carriers of the fragile X gene. And for patients with medical histories that include family members with intellectual disability or fragile X, a physician should recommend carrier screening before conceiving.
When a physician does not give parents the tools necessary to make an informed decision about getting pregnant or maintaining a pregnancy in the face of genetic defect risks, they do a grave disservice. A doctor who fails to counsel parents about genetic risks or recommend genetic or carrier testing to a woman prone to congenital disease may be considered negligent. In essence, medical malpractice occurs with fragile X when a doctor deprives a woman and/or her partner of a choice of whether to forego or terminate pregnancy. Such medical malpractice supports a wrongful birth lawsuit. In other situations, prenatal screening or genetic testing before pregnancy may have been done, but the medical professionals involved misdiagnosed or failed to diagnose fragile x syndrome.
Doctors have a duty to inform their patients of potential pregnancy risks. When they breach that duty, parents of a child born with substantial birth defects or inherited congenital conditions may be able to file a lawsuit. Without the necessary medical information to make an informed decision on whether to become pregnant or end a pregnancy, parents may find themselves with a child suffering from birth defects. In the case of a fragile X baby, the parents and child can anticipate a life of doctor visits, medications, therapies, and heartbreak.
Recovering Damages for Fragile X Syndrome Negligence
A successful wrongful birth lawsuit yields a damage award to cover the costs of caring for a child with fragile X. Those costs include special schools or tutors to teach children with learning disabilities, medications, monitoring, and treatments. Emotional distress and mental anguish is another compensable damage in a wrongful birth lawsuit. In other words, all of the costs associated with raising a child with fragile X are compensable.
However, wrongful birth lawsuits founded on medical malpractice are not easy to bring. You need a great deal of medical and legal knowledge to convince a jury that a doctor did not do what they should have, measured against standard practices in their field under the same circumstances. The malpractice proof comes from medical experts and a compelling case including medical records, extensive information, and a well-assembled argument to establish that negligence occurred, resulting in injuries and damages. You need a medical malpractice attorney who regularly deals with medical experts, understands medical terminology and protocols, and prepares medical malpractice and wrongful birth cases for trial.
Contact NJ Fragile X Syndrome Malpractice Attorneys Representing Victims and Families
Our accomplished team of medical malpractice attorneys in New Jersey are highly familiar with handling malpractice insurance adjustors, medical billing departments at medical offices and hospitals, judges, and defense attorneys. We fully understand what to expect and anticipate from a medical malpractice defense standpoint, and we skillfully construct wrongful birth cases, and navigate the legal process with decades of combined experience and millions of dollars in verdicts and settlements on our side. When you need advice about the strengths and weaknesses of your wrongful birth case and assistance with building the optimal claim for compensation, seek out our seasoned medical malpractice lawyers for a free consultation. We are ready, willing, and passionate about supporting and guiding you through the hurdles that may come your way when filing a lawsuit for undiagnosed or misdiagnosed fragile X syndrome in your child. Call 866-708-8617 or connect with us via our easy to use form and begin your journey toward a better life for your child.