Every year children are born with treatable metabolic disorders, also called “inborn errors of metabolism.” Thanks to newborn screening, many are identified and treated quickly and go on to lead fulfilling lives. Sometimes, however, there is a mistake in the screening process or a family is not offered all appropriate screening, and a child dies or is permanently disabled before diagnosis. Other children are properly screened and identified early, but they are injured by poor medical care – despite the correct diagnosis.

Chuck Hehmeyer has represented dozens of families of children around the country with metabolic disorders and has extensive experience with these diseases, including PKU (Phenylketonuria), Congenital Hypothyroidism, Sickle Cell, GA-1 (Glutaric Acidemia Type I), MCAD (Medium Chain Acyl-CoA Dehydrogenase Deficiency), VLCAD (Very Long Chain Acyl-CoA Dehydrogenase Deficiency), IVA (Isovaleric Acidemia), MMA (Methylmalonic Acidemia), PA (Propionic Acidemia), Galactosemia, MSUD (Maple Syrup Urine Disease), Homocystinuria, CAH (Congenital Adrenal Hyperplasia), Biotinidase Deficiency, Mitochondrial Disorders, Pterin Disorders (including DHPR Deficiency and Sepiapterin Reductase Deficiency) and Guanidinoacetate Methyltransferase Deficiency (GAMT).

The following are some typical cases where children with metabolic disorders have suffered from negligent care:

  • A newborn screening sample is collected too early, before the metabolites which are measured in the screening process rise above the cutoff. Samples should not be collected before 12 hours of age and typically are collected at 24-36 hours of age.
  • A newborn screening sample mistakenly is not collected because a child is in the neonatal intensive care unit (NICU) or transferred to a different hospital because of complications. Hospital personnel and pediatricians are required to assure that no baby falls through the cracks and misses newborn metabolic screening.
  • A newborn screening sample is collected after a blood transfusion, which invalidates the test, but it is submitted as if it were a normal sample.
  • The state laboratory, the birth hospital and/or the child’s pediatrician miscommunicate and fail to act on an abnormal sample or don’t direct parents promptly for diagnostic testing.
  • A phlebotomist or laboratory technician fails to report an abnormal sample or mixes up samples.
  • Screening is delayed because the birth hospital “batches” many samples before sending them to the state lab to save money on shipping.
  • A child becomes critically ill before newborn screening is returned and doctors fail to recognize clear signs of a metabolic decompensation, typically working the baby up only for infection.
  • A child with a known inborn error of metabolism presents to an emergency department with an emergency protocol signed by their metabolic doctor but the protocol is ignored.
  • A hospital/pediatrician fails to inform parents about the existence of important screening beyond what the state mandates.

Families should be aware that most states extend statutes of limitations for children and parents always should consult a qualified lawyer to determine if their child’s claim is still valid – even if it has been many years or even a decade since the negligence occurred. In Pennsylvania, for example, claims on behalf of children can be filed up until the child’s 20th birthday.

Our firm always associates with an experienced medical malpractice firm in the state where the malpractice occurred to assure that the family has the best possible representation: An expert on representing children with metabolic disorders and an expert on local law and court procedures.

Significant Cases

Eight Figure Post-Trial Settlement for Child with Metabolic Disorder

When a Georgia boy was born, his pediatricians failed to detect that he suffered from maple syrup urine disease (MSUD), a newborn metabolic disorder which prevented Trevor from being able to metabolize certain types of food.

$7 million settlement for failure to provide glucose to a boy with a mitochondrial disorder

The ER should have performed a glucose check when a child arrived, but the staff failed to do so.

Read More About Our Clients' Cases