Santini v. HHS, Case No. 06-725V (Fed. Cl. Jun. 30, 2015) (Braden, J)

This case was tried jointly with Barclay v. HHS, also in this summary.  Both cases involved an allegation that the DTaP vaccine triggered or worsened Dravet’s syndrome/SMEI in a child with an SCN1A mutation.  In the instant case, the Special Master held that Petitioner’s expert was not persuasive in his opinion that vaccinations affected the child’s outcome. Conversely, Respondent’s experts were persuasive in opining that the SCN1A mutation was the sole cause of Dravet’s. Thus, Petitioners failed to establish the first prong of Althen and HHS established a factor unrelated.

The Special Master also held:

[T]he evidence overwhelmingly demonstrated that [the child] would be the same even if he did not receive the vaccine. The vaccination did not affect or contribute to his developmental delay. [Petitioners] have failed to meet their burden of establishing, by preponderant evidence, that he suffered an injury for more than six months.

On appeal, Petitioner argued five bases for relief:

  • The Vaccine Act requires only an inquiry into what caused the actual, acute change which occurred after vaccination, rather than what caused a hypothetical difference in his ultimate outcome;
  • The Special Master failed to apply the six-step causation analysis applicable in a “significant aggravation” case, instead, basing the decision on whether the vaccine affected the child’s outcome;
  • The Special Master failed to determine whether the HHS had satisfied the Althen standard in proving a factor unrelated, again substituting an analysis of whether the vaccination had affected his ultimate outcome;
  • The Special Master failed to consider two articles suggesting that the child’s specific mutation might have resulted in a milder phenotype;
  • The Special Master’s interpretation of “severity,” was not in accordance with law, because where there is a significant aggravation of a pre-existing condition, the law requires only that “‘the change for the worse’ in the petitioner’s preexisting condition persists for more than six months. Here, “[t]he vaccine-related change for the worse in the child’s condition was the change from a child who did not have seizures to a child who had frequent seizures . . . [that have] persisted for more than eleven years.” In addition, Petitioners faulted the Special Master for applying a “novel and unique” requirement that Petitioners must “demonstrate that the child’s ‘current outcome is worse than what would normally occur’ in the ‘natural or expected course’ of his preexisting condition.”

In beginning its analysis, the Court noted that ‘[t]he Government would have the court determine that the expert opinions of Drs. Wiznitzer and Raymond are dispositive in all cases where a child has a mutation of the SCN1A gene, without regard for factual differences in other cases or future scientific evidence.”  The Court declined this invitation “to ignore the impact of ever-changing technological advances and medical breakthroughs that might discredit the plausibility of a formerly accepted theory.”  The Court also pointed out that Dr. Wiznitzer, who the government had presented in all of its SCN1A cases had no special expertise in genetics at all much less the SCN1A gene, although the Court acknowledged that Dr. Raymond was a qualified geneticist.

Turning to the facts of the case, the Court observed that all experts agree that there is a causal relationship between the vaccinations and the initial seizure. More specifically, the DTaP vaccine prompted a fever, and fever in children with an SCN1A mutation can prompt a seizure. The [Government’s] experts conceded this point without dispute. Therefore, the Special Master considered the determinative issue to be whether [the child’s] [DTaP] vaccination caused SMEI or Dravet Syndrome.

The reviewing court held that the Special Master had fairly characterized the evidence presented by Petitioner’s expert:

To explain how a vaccine could change the effect of an SCN1A mutation Dr. Corbier presented three overlapping theories in his testimony. A first idea is that people with an SCN1A mutation are vulnerable or susceptible to developing an adverse reaction to the DTaP vaccine.  A second theory is that vaccines cause Dravet syndrome to manifest earlier by bringing about the seizures before they would have occurred otherwise. . . . A third concept from Dr. Corbier is that the vaccines cause a more prolonged seizure and the prolonged seizure inflicts additional damage. (internal citations omitted) (emphasis in original).

The Special Master concluded that “Dr. Corbier was not persuasive in his opinion that vaccinations affected [the child’s] outcome. . . . Consequently, Petitioners have failed to establish the first prong of Althen[.]”

The reviewing court disagreed with the Special Master that the problem with Petitioner’s case was the persuasiveness of Dr. Corbier – the Court noted that, like Dr. Wiznitzer, Dr. Corbier lacked the requisite expertise to testify as an expert in genetics or as to the cause of gene mutation (emphasis supplied).  More importantly to the reviewing court was the fact that Dr. Corbier presented no theory “linking” the vaccination to Dravet’s syndrome.  “Therefore, since Petitioners failed to meet their burden of proof, Dr. Raymond’s opinion that ‘[the child’s] mutation is the primary and . . . sole cause of his developing Dravet’s Syndrome’ was extraneous.”

The Court further held that Dr. Raymond’s testimony was “beside the point, as the relevant inquiry was overlooked by all of the experts, lawyers, and Special Master in this case.” (emphasis supplied).

The Court noted that the child’s mutation was de novo, and de novo mutations may occur during embryonic development or after birth, according to the NIH (emphasis supplied). The Special Master had found that the child was born with the SCN1A mutation, and Dr. Corbier had testified that this was the case, but Dr. Corbier did not have the expert credentials to proffer an expert medical opinion on this issue, thus the Special Master’s finding in this regard was arbitrary and capricious.

The Court elaborated that when a de novo mutation occurs is significant, because a mutation that takes place after birth can be caused by environmental factors, according to the NIH.  “Therefore, the relevant inquiry, in this case, was whether [the child’s DTaP] vaccine caused the de novo mutation of his SCNIA gene, not whether the vaccine caused the symptoms of Dravet’s Syndrome.”

Dr. Raymond testified that for those children whose SCN1A mutations occur before birth, childhood vaccinations will have no effect on whether or the degree to which they experience developmental delays. But, for those children who develop de novo mutations after birth, the role, if any, of childhood vaccines in causing the mutation, is important to explore in future cases, particularly in light of the exponential growth of knowledge about human genetics.

Thus, because Petitioner failed to demonstrate that the vaccine caused the SCN1A mutation postnatally, the Special Master’s denial of entitlement had been correct, albeit for the wrong reasons.

Vaccine Case Reviews DTaP – SCN1A – Dravet’s syndrome/SMEI: “Relevant inquiry was overlooked by all of the experts, lawyers, and Special Master”