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Sickle Cell Disease

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Learn More About Sickle Cell Disease and Possible Misdiagnosis

What is Sickle Cell Disease?

Sickle cell disease involves a group of inherited blood disorders in which red blood cells assume an abnormal, rigid sickle shape. This can result in interruption of blood flow, and prevent oxygen from reaching tissue and organs. When this occurs, painful events can occur with an associated risk of muscle, bone and organ damage. In a common form of sickle cell disease known as sickle cell anemia, there is a shortage of red blood cells circulating through the body (anemia), because sickle cells die prematurely. Unfortunately, sickle cell disease is considered a lifelong disease in which there is no universal cure.

A simple blood test either before conception or during pregnancy can determine whether either parent carries a sickle cell trait. People with sickle cell trait don’t have sickle cell disease or exhibit any signs of the disorder, but they can pass the gene for the disease to their children. When both parents have the sickle cell trait, there’s a 25% chance that a child will have sickle cell disease.

Prenatal Diagnosis of Sickle Cell Disease

A careful history should be taken from all pregnant women seeking to identify risk factors for genetic disorders. Information should include the health status and presence of genetic disorders or carrier status of parents and relatives, as well as inquiry into ethnic background. If either parent is at increased risk for sickle cell trait based on their genetic background, a simple blood test called hemoglobin electrophoresis should be offered testing for the presence of sickle cell trait.

According to the National Institute of Health, sickle cell disease is most common in people whose families come from Africa, South or Central America (especially Panama), Caribbean islands, Mediterranean countries (such as Turkey, Greece, and Italy), India, and Saudi Arabia. Therefore testing  for sickle cell trait should be offered to all African Americans and Hispanics, along with individuals of Mediterranean, Middle Eastern or Indian descent. Diagnostic testing with Chorionic Villus Sampling (CVS) or Amniocentesis can then be performed.

  • Chorionic Villus Sampling (CVS)
    • At 10 to 13 weeks gestation, a small piece of placental tissue (chorionic villi) is taken from the uterus.  The tissue is then analyzed for genetic abnormalities, including sickle cell disease. CVS allows medical providers to confirm the presence of many genetic abnormalities, including sickle cell diease.  It is therefore considered a diagnostic procedure. While CVS does carry some slight risk of miscarriage, with the use of modern methods, this risk has been significantly reduced.
  • Amniocentesis
    • A thin needle is inserted to get a small sample of amniotic fluid, which surrounds the fetus in the womb. The fluid is then analyzed for genetic abnormalities, including sickle cell disease. This test allows medical providers to confirm the presence of many genetic abnormalities, including sickle cell disease.  It is therefore considered a diagnostic procedure.  While amniocentesis does carry some slight risk of miscarriage, with the use of modern methods, this risk has been significantly reduced.

Your Rights in the Event of a Sickle Cell Disease Misdiagnosis

In order to recover, parents generally must prove that a medical providers negligence prevented them from learning that there was an increased risk that the fetus had a significant birth defect or disease. They must also establish that they would likely have terminated the pregnancy had they been advised of the problem. In doing so, they are not in any way calling into question their love and devotion to their child – that relationship has already been established and will continue forever. Instead, they are merely acknowledging that if told of the defect or disease during the pregnancy, they would have likely chosen not to undertake the financial and emotional issues involved in parenting a child with a significant lifelong disease or disability.

The New Jersey Supreme Court has held that if a prenatal misdiagnosis claim  is established, the negligent medical provider must provide compensation for the extraordinary expenses related to the child’s condition over the child’s lifetime. In addition, compensation must be provided to the parents for any emotional injury experienced  in parenting a child with special needs.  Prenatal misdiagnosis claims – which are sometimes referred to as “wrongful birth” cases – are permitted to varying degrees in some states, and are not permitted in other states.  The law firm of Weiss & Paarz affiliates with top rated medical malpractice law firms nationwide in pursing cases.

What to Do After a Sickle Cell Disease Misdiagnosis

Sickle cell disease can vary greatly in severity, with symptoms ranging from very mild to severe and debilitating. Children with sickle cell disease require heightened attention from their parents and medical providers so that serious illness can be prevented or lessened. Medical monitoring is required over the course of such children’s lifetime, and in patient hospitalizations are typically required on an annual basis.

The expenses involved in making sure a child with sickle cell disease gets the best medical care possible over the course of that child’s lifetime can be enormous. There may be a significant difference in the treatment and services that private medical insurance, a public school system, or such programs as Medicaid will cover, and the most desirable state of the art treatment. If your child has sickle cell disease, and you did not learn of this diagnosis in time to exercise a choice as to whether to continue the pregnancy, you may be entitled to compensation. Proceeding with a claim may be the only way to ensure your child has the financial resources to access the best available care.

The law firm of Weiss & Paarz, P.C. limits its practice to representing victims of medical malpractice. We are highly experienced in representing parents of children with sickle cell disease and other genetic disorders. Although we are based in New Jersey, we affiliate with top rated medical malpractice law firms nationwide in pursuing cases. There is never any fee if there is no recovery.  If you would like to discuss the possibility of pursuing a claim, please contact Weiss & Paarz, P.C., today.

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