Colorado’s second-highest court ruled on Thursday that the parents of children born with an inherited muscle degeneration disorder can sue the medical professionals who incorrectly told them prior to conception that the mother was not a carrier of the gene.

A three-judge panel for the Court of Appeals interpreted for the first time a 1989 law permitting medical negligence claims involving genetic disorders. The provision was enacted shortly after a Colorado Supreme Court decision found two parents could sue the physicians who mistakenly told them their son’s blindness was not hereditary — only for them to conceive a second son who was also blind.

In the case of Secily Maldonado and John Anthony Carcanaques, whose children were born between 2019 and 2022, Maldonado knew she had a family history of Duchenne muscular dystrophy. DMD is a genetic disorder, predominantly affecting males, entailing irreversible muscle degeneration. Maldonado underwent testing and was told she was not a carrier of DMD.

However, after her two children were born, Maldonado learned her son suffered from DMD and her daughter was a carrier of the gene — as was she.

Maldonado and Carcanaques sued the testing company GeneDx, Inc., as well as Children’s Hospital Colorado and the University of Colorado Hospital Authority under the 1989 medical negligence law. They alleged the faulty test outcome for Maldonado was apparently a product of mixed-up samples, a laboratory error or a mistake reading the results.

Whatever the cause, had the test been correct, “Ms. Maldonado would have made an informed decision not to have biologic children and her children would not suffer from a fatal disease. Alternatives to a natural pregnancy could have been addressed, or adoption,” wrote attorney James H. Chalat.

The defendants pointed out the law only allowed negligence claims when “the damage or injury could have been prevented or avoided by ordinary standard of care.” They argued that in the parents’ case, the development of DMD was not preventable and, therefore, they could not be held liable.

In an October 2023 order, Denver District Court Judge Martin F. Egelhoff agreed with the defendants.

“Moreover, the claimed damage or injury was not the birth of the child, but rather the birth of a child adversely affected by DMD,” he wrote. “The damage or injury is therefore the result of the genetic disease or disorder. Accordingly, absent evidence that DMD could have been prevented or avoided by ordinary standard of care, the plaintiffs’ claims are barred.”

The parents turned to the Court of Appeals, arguing Egelhoff and the defendants misunderstood the nature of the claim. Under the plaintiffs’ theory, the negligence of the defendants prevented them from making “informed family planning choices,” leading them to conceive children afflicted by DMD.

The Court of Appeals agreed with the parents, noting the “damage or injury” referenced in the law was broader than the actual genetic disorder.

“As the parents concede, a health care professional’s exercise of the ordinary standard of care could not have prevented or avoided the children’s inheritance of the DMD gene from Maldonado,” wrote Judge Sueanna P. Johnson in the Nov. 21 opinion.

But, as the Supreme Court’s decision involving inherited blindness showed, “parents may be compensated for the birth of a child born with an impairment,” she continued, “due to expenses resulting from the impairment because of a health care professional’s negligence.”

For the children born with DMD, the panel concluded the incorrect genetic advice affected the parents’ decision to get pregnant. Therefore, they had stated a claim against the allegedly negligent defendants for the costs associated with the illness.

Chalat, the attorney for the plaintiffs, said he had never litigated a case like this in his 47 years of practicing law, but he was grateful for the Court of Appeals’ decision.

“It was a huge disappointment to me that the trial judge had not applied the statute as was written,” he said.

Attorneys for the defendants did not respond to emails seeking comment.

The appellate panel otherwise rejected the claim brought on behalf of the two children for “loss of enjoyment of a natural life.” Johnson wrote that Supreme Court precedent barred such a claim.

The case is Maldonado et al. v. GeneDx, Inc. et al.