Whitehead v. Secretary of Health and Human Services

In the United States Court of Federal Claims

OFFICE OF SPECIAL MASTERS

No. 18-1538V

(to be published)

*************************

DURENDA WHITEHEAD *

and *

KEYNARD SHAWTELL JOHNSON, SR., * Filed: September 29, 2021

on behalf of KSJ, JR., *

*

Petitioners, * Chief Special Master Corcoran

*

v. *

*

SECRETARY OF HEALTH AND *

HUM. SERVICES, *

*

Respondent. *

*

*************************

R. Christopher Irwin, III, Cook & Tolley LLP, Athens, GA, for Petitioners.

Dhairya Divyakant Jani, U.S. Dep’t of Justice, Washington, DC, for Respondent.

ENTITLEMENT RULING 1

On October 4, 2018, Durenda Whitehead and Keynard Shawtell Johnson, Sr., filed a

petition seeking compensation under the National Vaccine Injury Compensation Program

(“Vaccine Program”) on behalf of their minor son, K.S.J., Jr. (hereinafter referred to as “K.J.”). 2

Petitioners alleged that the MMR (measles, mumps, rubella) vaccine K.J. received on January 17,

2017, caused him to suffer from encephalitis and encephalopathy under the Vaccine Table. Petition

at 1 (ECF No. 1). In the alternative, Petitioners alleged that K.J.’s receipt of several vaccines on

1

This Decision will be posted on the Court of Federal Claims’ website in accordance with the E-Government Act of

2002, 44 U.S.C. § 3501 (2012). This means that the Decision will be available to anyone with access to the

internet. As provided by 42 U.S.C. § 300aa-12(d)(4)(B), however, the parties may object to the Decision’s inclusion

of certain kinds of confidential information. Specifically, under Vaccine Rule 18(b), each party has fourteen days

within which to request redaction “of any information furnished by that party: (1) that is a trade secret or commercial

or financial in substance and is privileged or confidential; or (2) that includes medical files or similar files, the

disclosure of which would constitute a clearly unwarranted invasion of privacy.” Vaccine Rule 18(b). Otherwise, the

whole Decision will be available to the public in its current form. Id.

2

The Vaccine Program comprises Part 2 of the National Childhood Vaccine Injury Act of 1986, Pub. L. No. 99-660,

100 Stat. 3758, codified as amended at 42 U.S.C. §§ 300aa-10 through 34 (2012) [hereinafter “Vaccine Act” or “the

Act”]. Individual section references hereafter will be to § 300aa of the Act (but will omit that statutory prefix).

January 17, 2017 (including the MMR, influenza (“flu”), hepatitis A, diphtheria, tetanus, acellular

pertussis (“DTaP”), hepatitis B, inactivated polio vaccine (“IPV”), haemophilus influenza type B

(“HiB”), pneumococcal conjugate vaccine (“PCV12”), and varicella vaccines), caused him to

suffer “the activation of his SLC19A3 gene variant,” leading him to experience an “SLC19A3-

related encephalopathy.” Petitioners’ Prehearing Brief, filed Nov. 19, 2020 (ECF No. 32)

(“Prehearing Brief”).

An entitlement hearing was held in this matter on March 4, 2021. Having reviewed the

materials filed in this case and considered the parties’ arguments, I hereby find that Petitioners

have met their burden of proof, and are therefore entitled to damages. Although Petitioners have

not met the evidentiary requirements for a Table encephalopathy injury, they have established

preponderantly that the multiple vaccines K.J. received in January 2017 likely triggered his

preexisting genetic mutation, manifesting as a specific disorder: biotin-thiamine-responsive basal

ganglia disease (“BTRBGD”).

I. Medical History

Pre-Vaccination History

K.J. was born on November 30, 2015. Ex. 3 at 13. At his birth, K.J. weighed 6 pounds, 1.3

ounces, and his Apgar score was 9 at one minute and 9 at five minutes, although he failed his

newborn hearing screening. Id. at 12; Ex. 5 at 33. During his first two months of life, K.J. had

regular well-child checks with his pediatrician at four days, two weeks, one month, and two months

of age, respectively. See Ex. 2 at 15–22. During that time, he was found to be healthy, and noted

to be growing and developing normally. Id. On February 5, 2016, at his two-month-old well-child

check, K.J. was administered certain routine childhood vaccines without incident. Id. at 16.

Prior to the receipt of the vaccinations at issue in this case, K.J. was hospitalized three

times for respiratory-related conditions. See Ex. 7 at 167; Ex. 5 at 83–87; Ex. 6 at 10–13. On April

19, 2016, K.J. was hospitalized overnight for bronchiolitis, but discharged the next day. Ex. 7 at

167. A few months later, on June 9, 2016, K.J. presented to the Coliseum Medical Center

Emergency Department in Macon, Georgia with another case of bronchiolitis. See Ex. 5 at 83–87.

He was treated with bronchodilators and transferred to Scottish Rite Hospital in Atlanta, Georgia,

where he remained until June 14, 2016. Id. at 87–88; Ex. 7 at 93. As part of his evaluation during

this hospitalization, K.J. had an abnormal swallow study. Ex. 7 at 467. His diagnoses were

bronchiolitis, respiratory failure, and laryngomalacia. Id. at 93. Finally, on November 18, 2016,

K.J. was again hospitalized overnight for respiratory distress and a history of laryngomalacia. Ex.

6 at 10–13. He responded well to steroids and bronchodilators, and was discharged the following

day. Id.

2

Vaccinations and Onset of Alleged Injury

On January 17, 2017, K.J. saw his pediatrician for a one-year-old well-child check. Ex. 2

at 12. No abnormal findings were noted on physical examination, and he was administered several

routine childhood vaccinations, including the MMR, flu, Hepatitis A, DTaP/HepB/IPV, Hib,

PCV13, and varicella vaccines. Id. at 13.

Five days later, on January 23, 2017, K.J. was taken to the Athens Regional Medical Center

Emergency Department for concerns of generalized weakness, fussiness, poor oral intake, and wet

diapers. Ex. 8 at 13. At that time, Ms. Whitehead provided the following history:

[He] was behind on his vaccine/immunizations and one week ago [he] had multiple

vaccines to help catch him up on his immunization. Mom reports the child did well

throughout the week but over the weekend mom noted that the child has had difficulty with

crawling and ambulating. He just started cruising/walking over the last few months and he

has been meeting his milestones. Mom reports he appears uncomfortable and seems to have

pain with attempting to crawl and ambulate.

Mom has also noted that he seems to be weak in the arms. She reports that when he reaches

out for things he will drop his arm. [S]he states she [ha]s also noted that [at] times he has

a fine tremor in his arms when he is trying to reach out for objects. No fever. No seizure

activity. No nausea or vomiting.

Id. Despite such concerns, K.J. was awake and alert with good eye contact, and had no fever, rash,

or respiratory symptoms. Id. at 13–14. In addition, his vitals were stable, and he did not appear to

have any acute infectious process. Id. at 14.

As part of his initial evaluation, K.J. underwent a brain computed tomography (“CT”) scan,

which demonstrated “[m]oderate low-attenuation in the basal ganglia bilaterally, having a

symmetrical appearance, plus areas of low-attenuation in the cerebral white matter, having a

parasagittal distribution on the right.” Ex. 8 at 15. The scan also revealed several lesions. Id. at 14

It was noted that if these findings were “of acute onset,” the differential diagnosis would properly

include “hypoxia, encephalitis, and carbon dioxide exposure,” whereas if the findings were “more

chronic,” the differential diagnosis should include “demyelinating disease and a number of

congenital disease processes.” Id. at 15–16.

K.J. was subsequently transferred to the Scottish Rite Hospital that same day in January

2017 for a higher level of care and further work-up and treatment. Ex. 8 at 14. There, Ms.

Whitehead again provided a medical history overview. In it, she recounted that K.J. had “woke up

and seemed normal” two days before (which would have been January 21, 2017), but then would

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not rise when called upon, and had trouble reaching toys placed in front of him. Ex. 7 at 3107. He

also proved unable to hold his bottle and seemed weak and lethargic. Id. By the next day (January

22, 2017), he seemed especially “spaced out” and sleepy, and so Ms. Whitehead allowed him to

sleep through the night before taking K.J. to the Emergency Department the next day. She added

that K.J. had not experienced any recent fever or upper respiratory infections. Id.

Upon examination, K.J. was active and alert, and displayed normal reflexes or cranial nerve

deficits, although he was unable to sit or stand without assistance and was mostly limp. Ex. 7 at

3107. The examining physician commented that there were no obvious differences between his

right and left side, and it was unclear whether K.J.’s condition represented ataxia or weakness. Id.

On January 24, 2017, K.J. underwent brain and spine magnetic resonance imaging (“MRI”), and

the brain MRI revealed “symmetric areas of abnormal signal, diffusion restriction, and abnormal

enhancement” that involved “the basal ganglia, thalami, and cerebral cortex.” Id. K.J.’s treating

physicians noted that these findings were “concerning for metabolic vs. postvaccine encephalitis

vs. ADEM [acute disseminated encephalomyelitis].” Id. Based on this initial exam and testing,

treating physicians recommended that K.J. be transferred to the pediatric intensive care unit

(“PICU”), which Petitioners initially refused but later accepted, and K.J. remained in the PICU

until February 6, 2017, when he was transferred to inpatient rehabilitation. Id. at 3108, 3110.

Specialist Evaluations in 2017

During his PICU admission, K.J. underwent several tests and medical evaluations.

Electroencephalogram (“EEG”) testing reflected normal results in the awake, drowsy, and sleep

stages, with no epileptiform abnormalities or electrographic seizures. Ex. 7 at 3932. On January

25, 2017, K.J. underwent an infectious disease consult with Lisa Cranmer, M.D., who noted that

it was unlikely that K.J. suffered from viral or bacterial encephalitis given the absence of fever,

pleocytosis (increased white blood cell count), and other viral symptoms. Id. at 3197. Dr. Cranmer

also listed possible non-infectious differential diagnoses, to include metabolic complications. Id.

That same day K.J. had a neurology consult with Rebecca Luke, M.D., who discussed the

possibility that K.J. was suffering from ADEM, but discounted its likelihood, since his brain MRI

did not reveal the presence of white matter involvement typical of ADEM. Ex. 7 at 3276.

Laboratory testing performed at that time revealed an elevated serum lactate and pyruvate levels,

with normal ammonia levels. Id. at 24. K.J. had a follow-up visit with Dr. Luke on January 29,

2017, and she now observed that K.J. was tracking people in the room and seemed less irritable.

Ex. 7 at 3446. K.J. was placed on a regimen of thiamine and levocarnitine for treatment of a

possible mitochondrial disorder. Id.

By the morning of February 6, 2017, K.J. “was showing some mild improvement—he was

reaching for toys, and seemed more alert although he remained intermittently irritable.” Ex. 7 at

4

3446. He participated in inpatient rehabilitation, including physical therapy, occupational therapy,

and speech language pathology until his discharge on February 21, 2017. Id. at 3116–17. At

discharge, the “predominant differential [diagnosis] was mitochondrial disease triggered by

administration of vaccines.” Ex. 11 at 34. Laboratory specimens were sent to Baylor for

mitochondrial genome sequencing. Id.

The following month, K.J. was seen by a speech language pathologist, Jennifer Ponder, on

March 6, 2017. Ex. 7 at 56. Ms. Ponder recorded that the family had no concerns about K.J.’s

eating at that time, although they were still taking some precautions in feeding. Id. Ms. Ponder did

not observe any overt signs or symptoms of laryngeal penetration or aspiration. Id. By March 17,

2017, K.J. had started walking with the assistance of a walker. Id. It is not evident from the records

at this time whether K.J. was still continuing to receive thiamine.

On April 18, 2017, K.J. was admitted to Navicent Health Medical Center for evaluation of

worsening ataxia and irritability. Ex. 11 at 33. In particular, the Petitioners had observed that a

week before, K.J. had “started becoming more clumsy (again…) and [was] falling a lot more. He

also started becoming remarkably hypotonic with interval inability to sit on his own or by himself.

He also started becoming more irritable” and “having low grade fevers.” Id. In addition, on the

previous night (April 17, 2017) K.J. had “an episode of disorganized perioral twitching that was

not associated with impairment of level of consciousness.” Id. An EEG revealed “diffuse delta

activity without subclinical seizures.” Ex. 11 at 33.

A neurological exam by Joseph Trasmonte, M.D., showed that K.J. was “[v]ery irritable.

Noninteractive. [Exhibiting a] [h]ead lag. Unable to sit on his own…Tone is reduced diffusely.”

Ex. 11 at 35. Dr. Trasmonte expressed concern with “interval worsening of prior abnormalities

intracranially,” adding that “[b]ecause of the exquisite symmetry of the lesions a mitochondrial

process is first in the DDX [differential diagnosis] but I am keeping [the] possibility of ADEM in

the list just because of the interval worsening of symptoms.” Id. A repeat MRI produced results

Dr. Trasmonte deemed “strikingly similar” to the first one performed earlier that year, and the

“pattern of abnormalities” suggested to him that “an underlying metabolic/mitochondrial process”

might explain K.J.’s condition, although a specific etiology remained elusive. Id. at 37–38. Dr.

Trasmonte proposed conducting whole exome genetic testing in the search for a cause. Id. He also

took note of concerns expressed by Ms. Whitehead that vaccination might be the reason for K.J.’s

illness, although he observed that “the classic manifestation of vaccine related brain injury is

ADEM,” but the MRI findings were not consistent with it. Id. At most, K.J. had “an underlying

subclinical metab[olic]/mit[oc]hondrial process and vaccination was a factor in its becoming

symptomatic.” Id.

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K.J. was discharged on April 22, 2017, with a diagnosis of possible

metabolic/mitochondrial disease. Ex. 11 at 38. No other records relevant to his injury reflecting

treatment in 2017 have been filed in this matter.

2018 and Identification of Genetic Mutation

On January 31, 2018, K.J. underwent another brain MRI, the results of which showed

“resolution of previously seen areas of acute injury to the brain,” and no findings suggestive of

progressive demyelination. Ex. 13 at 49. That same month, he underwent a neurological

examination that was performed by Stephanie Keller, M.D. Ex. 13 at 63. Dr. Keller’s exam records

memorialized K.J.’s history over the prior year, and in particular his motor and feeding issues. Id.

In reviewing K.J.’s laboratory and radiologic studies, Dr. Keller noted a “[m]utation in PHKA2

gene which is x-linked,” leading her to recommend that Ms. Whitehead also be tested. Id. at 66.

Dr. Keller’s impressions following exam were (1) “spastic quadriplegic cerebral palsy” and (2)

“developmental regression after [] vaccinations and illness.” Id. at 67. K.J. was referred for a

genetics consultation. Id.

A year later, on October 31, 2019 (and thus while this case was pending), K.J. underwent

whole exome sequencing with mitochondrial DNA analysis. See generally Ex. 22. K.J. was

identified as harboring two variants of unknown significance on the SLC19A3 gene—one

inherited from each parent, and a de novo variant in the TRRAP gene. Id. K.J. thereafter had a

genetic consultation with Dr. Juanita Neira Fresneda (“Dr. Neira”), Petitioners’ testifying expert,

on March 20, 2020, to review his recent genetic testing. Ex. 25-B at 1–4. Among other things, Dr.

Neira assessed K.J. with most likely having “BTRBGD,” which she characterized as being “a

variable phenotype but consistent with developmental regression following vaccines or illness,

encephalopathy, spasticity and abnormal brain MRI with hyperintensities in the caudate, putamen,

thalamus and diffuse corticosubcortical areas.” Id. at 3. Dr. Neira considered a possible BTRBGD

diagnosis as being consistent with K.J.’s complete clinical picture, plus his relevant MRI and

laboratory study findings. Id.

II. Testimony at Hearing and Expert Opinions

A. Ms. Durenda Whitehead

Ms. Whitehead, K.J.’s mother, was the first witness to testify at the hearing. See generally

Tr. 7–21. She began by giving a general overview of the first thirteen months of K.J.’s life. Id. at

7. As she recalled, K.J. was doing very well during this time period, and that he was consistently

meeting age-appropriate developmental milestones. Id. K.J. even began “cruising” and pulling

himself up onto his feet, sometimes taking up to five steps on his own. Id. at 8. K.J. was also

beginning to become verbal, saying a handful of words. Id. at 8–9. However, and while generally

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a healthy baby, K.J. did have some breathing issues, such as asthma, and got sick periodically. Id.

at 10.

Ms. Whitehead next described a well child check she had taken K.J. to on January 17, 2017

at Primary Pediatrics. Tr. at 10. At this visit, K.J. received his one-year immunizations, as well as

some other immunizations he had not received earlier. Id. A few days later, Ms. Whitehead noticed

K.J. was less active and appeared weaker. Id. at 11. She also noticed that he was whinier than usual

and had not moved much at all that day. Id. at 11–12.

By Monday, January 23, 2017, K.J. would not come to Ms. Whitehead when she called out

for him, and she noticed his legs trembling as he tried to stand up. Tr. at 12. After this trembling

incident, Ms. Whitehead decided to take K.J. to the hospital. Id. K.J. was later transferred to Athens

Regional hospital, where he was admitted. Id. He demonstrated difficulty in speaking, crawling,

and eventually in the ability to hold his own head up. Id. at 13. At one point, K.J. was even unable

to suck on anything and would gag when attempting to drink. Id.

Ms. Whitehead also recalled the few weeks before hospitalization, testifying that K.J. had

not been sick or taken any hard falls that she felt could explain his sudden deterioration. Tr. at 14.

The only thing that had been out of the ordinary had been the vaccinations he had received at his

well child check on January 17, 2017. Id.

Ms. Whitehead also testified about K.J.’s progress over the past four years of his life. Tr.

at 15. At five years old, K.J.’s function is significantly lower than his peers. Id. For example, K.J.

is required to use a wheelchair for transportation, he has no speech abilities, and although he has

redeveloped the ability to swallow on his own, he communicates using an eye gaze device because

he is unable to grasp anything with his hands. Id. at 15–17. Ms. Whitehead expressed hope that

K.J. will continue to progress, and that he eventually will be able to gain more independence. Id.

at 17.

B. Mr. Keynard Johnson, Sr.

Mr. Johnson, K.J.’s father, was the second witness to testify at the hearing, and his

testimony largely echoed Ms. Whitehead’s testimony. See generally Tr. at 21–27. He recalled that

K.J.’s first year of life was characterized by “walking, talking, eating, holding his own cup.” Id. at

22. K.J. was also beginning to say words such as “mama” and “dada.” Id.

But Mr. Johnson observed significant changes after K.J.’s vaccinations in January 2017.

Tr. at 23. K.J. went from a cheerful, happy baby to slowed-down and sad looking. Id. At the

hospital in particular, K.J. went from “a normal one-year-old to a new-born baby, really less than

7

a new-born baby.” Id. at 24. K.J. was now not able to do anything, and Mr. Johnson described him

as lying there “like he was almost dead.” Id.

Over the next four years, K.J. has made progress with the help of therapy. Tr. at 24. While

he still is unable to hold anything in his hands, he can now open and close them. Id. K.J. can also

bear a little bit of his weight with the use of a walker, although he cannot stand on his own. Id. Mr.

Johnson also testified that other than the vaccines K.J. received when he was thirteen months old,

there was nothing unusual that had happened to him that might explain his sudden decline. Id.

C. Petitioners’ Expert—Juanita Neira Fresneda, M.D.

Besides having treated K.J. and prepared a clinical note which was filed in this case, Dr.

Neira prepared one expert report and testified at the hearing. Report, dated July 30, 2020, filed as

Ex. 25 (ECF No. 28) (“Neira Rep.”); Tr. 27–66; Clinical Note, filed July 30, 2020 as Ex. B (ECF

No. 28).

Dr. Neira obtained a Doctor of Medicine with honors in 2008 from Fundación Universitaria

de Ciencias de la Salud, Bogotá, Colombia (University of Health Sciences) Hospital San José.

Curriculum Vitae, filed as Ex. A (ECF No. 28) (“Neira CV”) at 1. She then completed a pediatrics

residency at Woodhull Medical and Mental Health Center, Brooklyn, New York as well as a

residency in Medical Genetics at Baylor College of Medicine in Houston, Texas. Neira CV at 1.

Dr. Neira also completed a Medical Biochemical Genetics fellowship at Baylor College. Tr. at 28.

She is licensed to practice medicine in the state of Georgia. Neira CV at 1. Currently, she is an

Assistant Professor at the Department of Human Genetics at Emory University. Dr. Neira regularly

sees patients in the general genetics’ clinic at Emory Healthcare, focusing on treatment of pediatric

patients with genetic and metabolic disorders, and also manages in-patients with genetic and

inborn errors of metabolism at Children’s Healthcare of Atlanta (Egleston and Scottish Rite

campuses). Tr. at 28. Her publications in recent years have focused on some specific genetic

syndromes impacting child development. Neira Rep. at 2.

Dr. Neira’s first encounter with K.J. was as a patient in 2019, before she possessed any

knowledge of this vaccine injury claim, but well after the claim had been initiated. Tr. at 29, 35.

Because he was a new patient, Dr. Neira looked over K.J.’s entire medical history in order gain a

better understanding of the big picture and to focus her genetic inquiries. Id. at 29–31. She

identified no neurodevelopmental red flags or warnings within that pre-vaccination record. Id. at

34. Before this time, K.J. had already had extensive genetic work-ups, including a normal

chromosome microarray and mitochondrial genome sequencing which only revealed a variant of

uncertain significance deemed inconsistent with the patient’s presentation. Id. at 36.

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At her first visit with K.J., it was evident to Dr. Neira that he was still severely delayed for

his age and exhibiting an abnormal neurologic exam. Tr. at 35. In January 2020, she ran additional

genetic studies on K.J. (including whole genome sequencing and a search for metabolic

derangements), which would cover every known genetic disorder in the human body. Id. at 36.

The results showed that he possessed two variants in a gene called SLC19A3—one coming from

Ms. Whitehead and one from Mr. Johnson. Id. at 37.

The SLC19A3 gene, she explained, codes the proteins that constitute a thiamine

transporter, which is important for the mitochondria in cells responsible for energy production. Id.

at 45. If an individual is deficient in thiamine, mitochondrial enzymes are affected because

thiamine acts as a precursor for a substance called Acetyl-CoA which will start process of cellular

energy production. Id. If this cycle is not working, the body is going to be energy depleted, causing

patients to present with basal ganglia injury along with symptoms like weakness, ataxia, dysarthria,

etc. Id. Misfunction of this thiamine transporter is thus associated with BTRBGD, or thiamine-

responsive encephalopathy type-2. Neira Rep. at 2.

Dr. Neira provided some details about the nature of BTRBGD—and why it logically could

be vaccine-triggered. Because BTRBGD is reasonably understood to be comparable to be an

energy metabolism disorder, its phenotype or clinical presentation can be triggered by a stress or

catabolic conditions in a patient, resulting in acute clinical symptoms. Tr. at 38, 43; see M.

Alfadhel & B. Tabarki, SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review, 49

Neuropediatrics 83–92 (2018), filed as Ex. D, Tab 6 on Mar. 30, 2021 (ECF No. 39) (“Alfadhel &

Tabarki”). She further opined that it is well known that vaccines are stressors on the body and

provoke just that kind of response. Tr. at 40; Neira Rep. at 5; Alfadhel & Tabarki at 91. She stated

that since K.J. received so many vaccines at one time, and that some of the vaccines contained a

live virus, it could place severe stress in his body. 3 Tr. at 40–41; Neira Rep. at 5.

K.J.’s clinical presentation and MRIs, Dr. Neira maintained, were consistent with

BTRBGD. Neira Rep. at 2. His MRI findings echoed what other patients with an “SLC19A3-

driven encephalopathy” have experienced (in particular the symmetric areas of abnormal signal

and evidence of abnormal enhancement of the basal ganglia). Id. at 6. He also displayed

unexplained elevated blood lactate levels at the time of his January 2017 hospitalization. Id.

The medical history in this case, taking into account pre- and post-vaccination events, was

in Dr. Neira’s view supportive of the conclusion that the vaccines K.J. received in January 2017

were responsible for the sudden manifestation of his BTRBGD. K.J. remained neurologically

intact all the way until the vaccinations in January of 2017 despite several significant illnesses—

plus the fact that he already possessed the genetic mutations required for BTRBGD. Tr. at 63–64.

3

At least one of K.J.’s vaccines distributed on January 17, 2017—the MMR—is known to contain a live attenuated

virus. See MMR Package Insert, available at https://www.fda.gov/media/75191/download.

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By contrast, he had previously experienced other environmental triggers that could have provoked

manifestation of his underlying genetic problem—and the fact that they did not bring on the disease

in the same way that vaccination did was telling.

For example, nine months before January 2017, K.J. was seen at Children’s Hospital of

Atlanta in April 2016, where his presentation included a 105-degree temperature. Tr. at 63; Ex. 7

at 167–68. A few months after that, on June 9, 2016, K.J. similarly presented for treatment

primarily for a breathing issue but with a report of a 101-degree fever. Id. at 64. Neither of these

stressful events triggered sudden neurologic decline, however. Id. In fact, K.J. appeared to develop

normally all the way until the vaccinations in January of 2017. Id. And immediately prior to receipt

of the vaccines, he had experienced no fever or symptoms of any upper respiratory infection. Id.

at 63–64.

Then, the week prior to presentation in the hospital, K.J. received his four-month and six-

month catch-up immunizations—meaning he received seven vaccinations at one time. Tr. at 43;

Neira Rep. at 3, 6. The fact that K.J. received so many at once likely caused energy depletion,

which could result in the brain injuries and insults seen in K.J.’s initial MRI. Tr. at 41. Dr. Neira

could not identify one particular vaccine as causal—admitting that it was out of her immediate

area of expertise— but reiterated her view that the receipt of so many vaccinations in one day

inevitably caused much more stress on the body than the receipt of only one. Id. at 39, 44; Neira

Rep. at 7.

K.J.’s subsequent history showed obvious clinical deterioration. Tr. at 34; 57. In this period

of time, he had an extensive workup at the hospital, with several medical teams involved, finding

no additional explanation for his symptoms. Tr. at 40. Dr. Neira highlighted the fact that K.J.’s

clinical symptoms came on in an acute rather than progressive manner. Id. at 51. Thus, he suddenly

developed ataxia, and then his neurologic exam changed from baseline to having decreased muscle

tone and different reflexes. Id. The unexpected and severe way K.J.’s symptoms presentation

manifested were consistent with an immediately-prior environmental trigger—here, the vaccines.

Dr. Neira admitted that K.J.’s course was consistent with his genetic disease, regardless of

the alleged vaccine trigger. Tr. at 56. Indeed, K.J.’s underlying genetic mutation was what

ultimately created his symptoms – but, Dr. Neira stressed, the vaccines were responsible for setting

their deleterious effects into motion. Id. at 57. She also explained that the “relapse” K.J. seemed

to have experienced in April 2017 was not unusual, given that patients can have additional

encephalopathic episodes every time there is an additional stressor. Id. at 59. And, in fact, K.J.’s

MRI had already shown signs of necrosis, which means dead tissue of his brain. Id. Therefore, a

subsequent more severe or more acute presentation was unsurprising, even if it was not itself also

triggered by vaccination in the same way as K.J.’s initial presentation. Id. But once the vaccines

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had first “unmasked” K.J.’s underlying BTRBGD, further deterioration was to be reasonably

expected. Id.

D. Petitioners’ Expert—James E. Carroll, M.D.

Dr. Carroll provided two expert reports in this matter but did not testify. See Report, filed

Sept. 25, 2019 as Ex. 20 (ECF No. 20-3) (“First Carroll Rep.”); Report, filed April 3, 2020 as Ex.

21 (ECF No. 22) (“Second Carroll Rep.”).

Dr. Carroll obtained his bachelor’s degree and his medical degree from the University of

Louisville. First Carroll Rep. at 1. He completed a pediatrics internship and residency at Louisville

Children’s Hospital. Id. Dr. Carroll served as a Lt. Commander in the U.S. Navy at Bethesda Naval

Hospital after which he completed a pediatric neurology fellowship at the University of Colorado

Medical Center. Id. He also completed a neuromuscular diseases fellowship at Washington

University, St. Louis, Missouri. Id. Dr. Carroll is board certified in neurology with special

competence in child neurology and was an associate professor of Pediatrics and Neurology at

Washington University and at the Medical College of Georgia. Id. at 2. Since 1999, Dr. Carroll

has been a research biologist at the Veterans Administration Hospital in Augusta, Georgia. Id. He

has authored and co-authored approximately one hundred peer-reviewed medical journal articles

and several book chapters and monographs. Id. He has maintained an active pediatric neurology

clinic, seeing patients both in office and inpatient. Id.

Dr. Carroll’s first report was prepared and filed before the discovery of K.J.’s genetic

mutation. Based on a review of the relevant medical records, Dr. Carroll opined that the MMR

vaccine caused KJ to experience an encephalitis, manifesting in the neurologic symptoms

documented in the record. First Carroll Rep. at 10–12. He expressly disclaimed that any genetic

defect could explain this proposed encephalitis. Id. at 12. Although Petitioners have not formally

abandoned the opinion expressed therein, I find that the discovery of the mutation, coupled with

both testifying expert’s embrace of the BTRBGD diagnosis, greatly reduces the evidentiary value

of this report, and thus do not give it further discussion or attention.

In his second, shorter report, Dr. Carroll opined that it was unlikely that K.J. suffered from

a progressive genetic syndrome, such as Leigh syndrome, 4 but that whatever he had experienced

was likely triggered by the January 2017 vaccines. Second Carroll Rep. at 1. He also took aim at

4

Leigh syndrome is a subacute necrotizing encephalomyelopathy. Dorland's Illustrated Medical Dictionary (33d ed.

2020) at 531 [hereinafter Dorland's]. Respondent’s Expert, Dr. Raymond, explained Leigh syndrome’s clinical

features, which include “ataxia, hypotonia, spasticity, optic atrophy, nystagmus, ophthalmoplegia (eye movement

abnormalities), abnormal respiration patterns, and the loss of previously-acquired skills. There is often lactic acidosis

of the blood, cerebrospinal fluid, and urine, although this is not always present. The classic form of Leigh has onset

in infancy and is rapidly progressive to death in 5 years after onset.” See Report, filed Jan. 1, 2020 as Ex. A (ECF No.

21-1) (“First Raymond Rep.”) at 8–9.

11

contentions in the reports of Respondent’s expert about K.J.’s course. Id. at 2. And he briefly

referenced the genetic testing results, accepting that they corroborated the conclusion that K.J.’s

symptoms were attributable to a “thiamine deficiency” associated with the SLC19A3 genetic

variant, but maintained nevertheless that vaccination could trigger it, referencing treater evidence

in support. Id. at 4–5.

E. Respondent’s Expert—Gerald Vincent Raymond, M.D.

Dr. Raymond provided two expert reports in this matter and testified at the hearing. See

Report, filed Jan. 1, 2020 as Ex. A (ECF No. 21-1) (“First Raymond Rep.”); Report, filed Sept.

14, 2020 as Ex. C (ECF No. 30-1) (“Second Raymond Rep.”); Tr. 66–167. Dr. Raymond opined

that K.J.’s progressive genetic neuro-degenerative disorder (reasonably diagnosed as BTRBGD)

was not caused or exacerbated by his January 17, 2017 vaccinations, but rather constituted a

condition he was born with. Tr. at 126.

Dr. Raymond obtained his medical degree from the University of Connecticut. Curriculum

Vitae, filed as Ex. B (ECF No.21-6) (“Raymond CV”); Tr. at 66. He then did a residency in

pediatrics at Johns Hopkins followed by a three-year residency in neurology with special

qualifications in child neurology at Massachusetts General Hospital. Id. at 66–67. Dr. Raymond

also completed a fellowship at the Université Catholique do Louvain in Brussels specializing in

developmental neuropathology. Id. at 67. Following his fellowship, he returned to Massachusetts

General and Harvard where he completed a three-year fellowship in genetics and teratology. Id.

Dr. Raymond is board certified in neurology with special qualifications in child neurology as well

as clinical genetics. Raymond CV at 1. Currently, Dr. Raymond is employed at Johns Hopkins

University Hospital where he is a professor of genetic medicine and neurology. Tr. at 67.

Approximately 75 to 80 percent of his work is clinical, attending to inpatient service and working

in the Kennedy Krieger neurogenetics clinic. Id. at 67–68. Dr. Raymond has also published

numerous peer-reviewed articles in pediatric neurology and clinical genetics. Id. at 68.

Dr. Raymond began his testimony by giving some basic background on the relationship

between the SLC19A3 gene and thiamine uptake in the body (and the brain in particular). Tr. at

66. As a general matter, a gene is an inherited unit composed of DNA, with a sequence of

nucleotides that encodes a protein or, in some cases, nonprotein RNA. Id. Thiamine, a cofactor

sometimes referred to as a vitamin, is needed for the enzymatic action of a variety of biochemical

occurrences in the body (and thus its absence in the body has biochemical significance). Id. at 73.

Thiamine is particularly important in glucose metabolism, mitochondrial energy production (via

the Krebs cycle), and several other key energy-releasing processes. Id. Thus, without thiamine the

body will have a defect in the alpha-oxidation of certain forms of lipids interfering with the body’s

ability to utilize energy from lipid stores. Id.

12

The SLC19A3 gene, Dr. Raymond explained, is essential for assisting the transport of

thiamine across cell membranes and into the brain. Tr at 72–73. As a result, a defect or mutation

in that gene impairs thiamine transport, and in so doing results in harm. Such a thiamine-related

genetic disorder can have a variety of presentations. Id. at 77. It can, for example, have an infantile

presentation, which will appear like Leigh syndrome, or it can have an adult form which can look

a little bit like Wernicke’s encephalopathy. 5 Id. The classic presentation, however, is referred to

as BTRBGD, and is generally deemed a progressive neurological disease responsive to biotin

(vitamin B7) and thiamine. Id. at 78. 6 Its presumed pathogenesis is attributable to a defective

thiamine transporter, likely the result of a genetic mutation. Tr. at 86. Since such transporters have

particular significance to ensuring energy production in the brain, BTRBGD will typically

manifest with symmetric basal ganglia disease, while also involving other areas of the brain. Id. at

86–87; Second Raymond Rep. at 7.

Dr. Raymond offered and discussed two items of literature that shed light on BTRBGD’s

presentation or possible causes. See, e.g., P. Ozand et al., Biotin-Responsive Basal Ganglia

Disease: A Novel Entity, 121 Brain 1267–79 (1998), filed as Ex. C, Tab 6 on Sept. 14, 2020 (ECF

No. 30-7) (“Ozand”). Ozand considered ten individuals, ranging from ages two through seven

years old, and their disease course, and concluded that BTRBGD commonly appears as a subacute

encephalopathy but progresses into dystonia and quadriparesis. 7 Ozand at 1267. These symptoms

were found to disappear within a few days, however, if biotin was administered, with neurological

sequelae reappearing within one month if biotin was discontinued. Id. Ozand’s authors could not

identify the disease’s etiology but stressed the importance of biotin therapy in reversing and

preventing symptom progression. Id. Dr. Raymond made a point of highlighting one asymptomatic

patient in the study who was identified because of a symptomatic sibling. Tr. at 78. An MRI for

this patient revealed evidence of basal ganglia disease despite the lack of symptoms – and Dr.

Raymond deemed this significant because it suggested to him that BTRBGD would likely progress

subacutely, and prior to a presumed trigger. Id.

5

Wernicke encephalopathy may often intertwine with Wernicke-Korsakoff syndrome, a “behavioral disorder caused

by thiamine deficiency, most commonly due to chronic alcohol abuse and associated with other nutritional

polyneuropathies. Wernicke encephalopathy (confusion, ataxia of gait, nystagmus, and ophthalmoplegia) occurs as an

acute attack and is reversible, except for some residual ataxia or nystagmus, by administration of thiamine; Korsakoff’s

syndrome (severe anterograde and retrograde amnesia) may occur in conjunction with Wernicke encephalopathy or

may become apparent later; only about 20 per cent of patients recover completely from the amnesia.” Dorland's at

1824.

6

Dr. Raymond also discussed how treatment of the disorder has evolved over time. Tr. at 81. While initially

researchers believed that biotin was the only, or at least preferred, treatment, more recent research had established that

thiamin alone is sufficient. Id. at 81–82.

7

Dystonia is “dyskinetic movements due to disordered tonicity of muscle.” Dorland's at 576. Quadriparesis, also

called tetraparesis, is “muscular weakness affecting all four limbs” Id. at 1877.

13

By contrast, another study cited by Dr. Raymond observed a preceding, potentially-

triggering event, including viral infection or vaccination, in six patients shortly before onset of

early-infantile encephalopathies due to SLC19A3 gene mutation. Tr. at 78; S. Kevelam et al.,

Exome Sequencing Reveals Mutated SLC19A3 in Patients with an Early Infantile, Lethal

Encephalopathy, 136 Brain 1534–1543 (2013), filed as Ex. C, Tab 3 on Sept. 14, 2020 (ECF No.

30-4) (“Kevelam”). But despite the suggestion in Kevelam that many of these encephalopathies

were triggered by vaccinations, Dr. Raymond proposed that its authors may more likely have relied

on a temporal association rather than proof of a causal relationship. Tr. at 91; 8 Kevelam at 1542.

To support his contention that triggers were not critical in the development of SLC19A3-

related disorders like BTRBGD, Dr. Raymond referenced some animal studies. Tr. at 87–89; K.

Suzuki et al., High-Dose Thiamine Prevents Brain Lesions and Prolongs Survival of SLc19a3-

Deficient Mice, PLoS ONE 12 (6): e0180279, http://doi.org/10.1371/journal.pone.0180279 1-17

(June 30, 2017), filed as Ex. C, Tab 19 on Sept. 14, 2020 (ECF No. 31-9) (“Suzuki”); K. Vernau,

et al., Genome-Wide Association Analysis Identifies a Mutation in the Thiamine Transporter 2

(SLC19A3) Gene Associated with Alaskan Husky Encephalopathy, PLOS ONE 8(3): e57195.

Doic.10.1371/journal.pone.0057195 (March 4, 2013), filed as Ex. C, Tab 18 on Sept. 14, 2020

(ECF No. 31-8) (“Vernau”). Vernau demonstrated that a certain form of encephalopathy was

common to Alaskan huskies, who experienced deficiencies in energy production due to thiamine

transporter genetic deficiencies comparable to what humans also experienced. Second Raymond

Rep. at 7; Vernau at 5. Dr. Raymond opined, however, that Vernau and Suzuki established not

only that thiamine was effective in treating the condition, but also that the BTRBGD-like

conditions came about regardless of trigger (including vaccination). Tr. at 88, 89.

Overall, Dr. Raymond did not deny that literature referenced by Petitioners suggested that

a variety of environmental stressors—including vaccines—could trigger “acute episodes” for

children with BTRBGD. Second Raymond Rep. at 7–8; Kevelam at 1538; J.D. Ortigoza-Escobar

et al., Thiamine Deficiency in Childhood with Attention to Genetic Causes: Survival and Outcome

Predictors, 82 Annals Neurology317, 320 (Sept. 10, 2017), filed as Ex. 25, Tab E on July 30, 2020

(ECF No. 28) (“Ortigoza-Escobar”). Indeed, he acknowledged that his own literature emphasized

that “under physiologic stresses” thiamine transport deficiencies attributable to underlying

SLC19A3 genetic mutations could manifest. Second Raymond Rep. at 7 (“decline and clinical

manifestations may occur when the energy required exceeds the background levels and there is an

inability of the altered forms of the transporter to undergo the normal stress-induced expression

and functional compensation”); A. Schanzer et al., Stress-Induced Upregulation of SLC19A3 is

Impaired in Biotin-Thiamine-Responsive Basal Ganglia Disease, 24 Brain Pathol. 270–79 (2014),

filed as Ex. C, Tab 20 (ECF No. 31-10) (“Schanzer”). Schanzer does not discuss vaccination in

8

Dr. Raymond also discounted the apparent conclusions of Kevelam’s authors because of the retrospective aspect of

the study, plus the fact that no data was provided that would shed light on either (a) the specific vaccines at issue, or

(b) the timeframe from vaccination to onset. Tr. at 91.

14

particular, but does opine that a febrile illness or infection could constitute sufficient stress to lead

to acute manifestations. Schanzer at 270. Dr. Raymond nevertheless maintained that not enough

was known to conclude that vaccination could in fact act as such an environmental impetus. Second

Raymond Rep. at 8, 10.

Dr. Raymond went on to consider K.J.’s medical history and the diagnoses contained

therein. In the course of the litigation, his opinion changed a bit as to the proper diagnosis, after

the results of K.J.’s genetic testing were obtained in the fall of 2019. His first report was prepared

in response only to Dr. Carroll’s initial report, and it largely proposed that K.J. suffered from an

unidentified “progressive genetic neurodegenerative disorder” that Dr. Raymond felt was

comparable to Leigh syndrome. First Raymond Rep. at 13. By the time of his second report,

however, Dr. Raymond had the benefit of Dr. Neira’s report plus the genetic testing results. Now,

he deemed K.J.’s course and presentation “consistent with” the disorder associated with the

SLC19A3 variant (in effect, BTRBGD). Second Raymond Rep. at 6, 8.

Dr. Raymond next considered the pre-vaccine evidence of K.J.’s neurologic dysfunction.

For example, K.J. failed his newborn hearing screening. Tr. at 142–43; Ex. 5 at 33. Additionally,

K.J. had been hospitalized in June 2016 for treatment of acute bronchiolitis and laryngomalacia.

Tr. at 96. K.J. also had an abnormal swallow study at the time, and Dr. Raymond deemed it

significant because it could indicate preexisting neurologic dysfunction—possibly associated with

low muscle tone and hypotonia. Id. at 96–97. He admitted on cross-examination, however, that

there was no pre-vaccination evidence of clear BTRBGD onset, despite the demonstration of

potential environmental triggers, like fever or other illnesses, having occurred. Id. at 159–61.

Dr. Raymond disagreed with certain post-vaccination evidence that seemed to suggest

treater support for Petitioners’ claim. He specifically took issue with a radiologist’s impression of

a brain and complete spine MRI performed on January 24, 2017. Tr. at 103. While he agreed with

the description of what the imaging literally depicted, he disputed the technician’s impression that

K.J. possibly suffered from “postvaccination autoimmune encephalitis[.]” Id. at 104; Ex. 7 at

3139–3140. Dr. Raymond ultimately proposed that the progressive nature of K.J.’s condition

precluded the conclusion that it could be brought on acutely. Second Raymond Rep. at 8–9.

In addition, although Dr. Raymond accepted the existence of case reports identifying

instances of post-vaccination ADEM as a comparable injury, he denied that “postvaccination

autoimmune encephalitis” was a legitimate pathologic entity. Tr. at 105. Dr. Raymond also

stressed that there was no evidence in the medical records that showed K.J. was at this time

suffering any signs of encephalopathy—either acute or subacute. Id. at 105–107; 116. And while

there are various notes by K.J.’s treaters from early in his treatment including in their differentials

a possible link to vaccination (i.e. “metabolic process like a mitochondrial disease possibly

activated by vaccines” (Ex. 7 at 3276; Tr. at 111), treaters were generally moving away from the

15

consideration—which is evidenced by the pursuit of a variety of other possible etiologies. Tr. at

112.

Finally, Dr. Raymond highlighted K.J.’s period of improvement once he was discharged

from the hospital in February 2017 (after responding well to thiamine treatment), contrasting it to

his subsequent April 2017 regression, featuring significant loss of abilities plus significantly

worsened presentation on MRI. Tr. at 122. Dr. Raymond specifically proposed that this occurrence

was the product of a cessation of the thiamine treatments that had initially been so beneficial for

K.J. Second Raymond Rep. at 8–9. This assertion was not, however, supported by any record cite

establishing thiamine cessation to have in fact occurred, and it appears rather than Dr. Raymond

assumed this to be the case based on statements made by Petitioners to a speech language

pathologist in March 2017 about their feeding practices for K.J. at that time.

By this point, Dr. Raymond opined, K.J. was “manifesting some degree of

encephalopathy,” since he was less responsive, and his decline was confirmed by an abnormal

EEG result. Id. at 122. K.J. had now experienced sever developmental loss and was described on

exam as having spastic quadriplegia. Id. at 124. This relapse was significant to Dr. Raymond,

because he felt it demonstrated that K.J.’s decline was overall progressive rather than acute (as

might be expected if the vaccines has truly triggered the BTRBGD). Id. at 125; First Raymond

Rep. at 8.

III. Procedural History

After the case’s initiation in October 2018, Petitioners filed medical records supporting the

claim along with the Statement of Completion. ECF No. 8. Respondent’s Rule 4(c) Report was

filed in April 2019, and then shortly thereafter the case was reassigned to me. ECF No. 12. In

January 2020, Respondent filed Dr. Raymond’s expert report. ECF No. 21. Later that year, in

April, Petitioners filed Dr. Carroll’s expert report. ECF No. 22. I set the matter for a hearing, to be

held March 4–5, 2021. ECF No. 26. Prior to the hearing, Petitioners filed Dr. Neira’s expert report

in July 2020, and Respondent filed Dr. Raymond supplemental expert report in September 2020.

ECF Nos. 28, 30. The trial occurred as scheduled, and both parties filed post hearing briefs in July

2021. ECF Nos. 40–41. The matter is now ripe for resolution.

IV. Applicable Law

A. Standards for Vaccine Claims

To receive compensation in the Vaccine Program, a petitioner must prove that: (1) they

suffered an injury falling within the Vaccine Injury Table (i.e., a “Table Injury”); or (2) they

suffered an injury actually caused by a vaccine (i.e., a “Non-Table Injury). See Sections

13(a)(1)(A), 11(c)(1), and 14(a), as amended by 42 C.F.R. § 100.3; § 11(c)(1)(C)(ii)(I); see also

16

Moberly v. Sec'y of Health & Hum. Servs., 592 F.3d 1315, 1321 (Fed. Cir. 2010); Capizzano, 440

F.3d at 1320. To bring a successful Table claim, the petitioner must make a precise factual showing

sufficient to meet the Table's relevant definitions, as set forth in the Table's “Qualifications and

aids to interpretation” (“QAIs”). Section 14(b). If successful, the petitioner need not establish

vaccine causation, as it is presumed if the Table requirements for a particular claim are met. Section

14(a). In this case, the Petitioners assert both a Table and non-Table claim.

For both Table and Non–Table claims, Vaccine Program petitioners bear a “preponderance

of the evidence” burden of proof. Section 13(1)(a). That is, a petitioner must offer evidence that

leads the “trier of fact to believe that the existence of a fact is more probable than its nonexistence

before [he] may find in favor of the party who has the burden to persuade the judge of the fact's

existence.” Moberly, 592 F.3d at 1322 n.2; see also Snowbank Enter. v. United States, 6 Cl. Ct.

476, 486 (1984) (explaining that mere conjecture or speculation is insufficient under a

preponderance standard). On one hand, proof of medical certainty is not required. Bunting v. Sec'y

of Health & Hum. Servs., 931 F.2d 867, 873 (Fed. Cir. 1991). But on the other hand, a petitioner

must demonstrate that the vaccine was “not only [the] but-for cause of the injury but also a

substantial factor in bringing about the injury.” Moberly, 592 F.3d at 1321 (quoting Shyface v.

Sec'y of Health & Hum. Servs., 165 F.3d 1344, 1352–53 (Fed. Cir. 1999)); Pafford v. Sec'y of

Health & Hum. Servs., 451 F.3d 1352, 1355 (Fed. Cir. 2006). A petitioner may not receive a

Vaccine Program award based solely on his assertions; rather, the petition must be supported by

either medical records or by the opinion of a competent physician. Section 13(a)(1).

In attempting to establish entitlement to a Vaccine Program award of compensation for a

Non–Table claim, a petitioner must satisfy all three of the elements established by the Federal

Circuit in Althen v. Sec’y of Health and Hum. Servs., 418 F.3d 1274, 1278 (Fed. Cir. 2005): “(1) a

medical theory causally connecting the vaccination and the injury; (2) a logical sequence of cause

and effect showing that the vaccination was the reason for the injury; and (3) a showing of

proximate temporal relationship between vaccination and injury.” Each Althen prong requires a

different showing and is discussed in turn along with the parties’ arguments and my findings.

Under Althen prong one, petitioners must provide a “reputable medical theory,”

demonstrating that the vaccine received can cause the type of injury alleged. Pafford, 451 F.3d at

1355–56 (citations omitted). To satisfy this prong, a petitioner's theory must be based on a “sound

and reliable medical or scientific explanation.” Knudsen v. Sec'y of Health & Hum. Servs., 35 F.3d

543, 548 (Fed. Cir. 1994). Such a theory must only be “legally probable, not medically or

scientifically certain.” Id. at 549.

However, the Federal Circuit has repeatedly stated that the first prong requires a

preponderant evidentiary showing. See Boatmon v. Sec'y of Health & Hum. Servs., 941 F.3d 1351,

1360 (Fed. Cir. 2019) (“[w]e have consistently rejected theories that the vaccine only “likely

caused” the injury and reiterated that a “plausible” or “possible” causal theory does not satisfy the

standard”); see also Moberly v. Sec'y of Health & Hum. Servs., 592 F.3d 1315, 1321 (Fed. Cir.

17

2010); Broekelschen v. Sec'y of Health & Hum. Servs., 618 F.3d 1339, 1350 (Fed. Cir. 2010). This

is consistent with the petitioner’s ultimate burden to establish his overall entitlement to damages

by preponderant evidence. W.C. v. Sec'y of Health & Hum. Servs., 704 F.3d 1352, 1356 (Fed. Cir.

2013) (citations omitted). If a claimant must overall meet the preponderance standard, it is logical

that they be required also to meet each individual prong with the same degree of evidentiary

showing (even if the type of evidence offered for each is different).

Petitioners may offer a variety of individual items of evidence in support of the first Althen

prong, and are not obligated to resort to medical literature, epidemiological studies, demonstration

of a specific mechanism, or a generally accepted medical theory. Andreu v. Sec'y of Health & Hum.

Servs., 569 F.3d 1367, 1378–79 (Fed. Cir. 2009) (citing Capizzano, 440 F.3d at 1325–26). No one

“type” of evidence is required. Special masters, despite their expertise, are not empowered by

statute to conclusively resolve what are essentially thorny scientific and medical questions, and

thus scientific evidence offered to establish Althen prong one is viewed “not through the lens of

the laboratorian, but instead from the vantage point of the Vaccine Act's preponderant evidence

standard.” Andreu, 569 F.3d at 1380. But even though “scientific certainty” is not required to

prevail, the individual items of proof offered for the “can cause” prong must each reflect or arise

from “reputable” or “sound and reliable” medical science. Boatmon, 941 F.3d at 1359–60.

The second Althen prong requires proof of a logical sequence of cause and effect, usually

supported by facts derived from a petitioner’s medical records. Althen, 418 F.3d at 1278; Andreu,

569 F.3d at 1375–77; Capizzano, 440 F.3d at 1326; Grant v. Sec'y of Health & Hum. Servs., 956

F.2d 1144, 1148 (Fed. Cir. 1992). In establishing that a vaccine “did cause” injury, the opinions

and views of the injured party's treating physicians are entitled to some weight. Andreu, 569 F.3d

at 1367; Capizzano, 440 F.3d at 1326 (“medical records and medical opinion testimony are favored

in vaccine cases, as treating physicians are likely to be in the best position to determine whether a

‘logical sequence of cause and effect show[s] that the vaccination was the reason for the injury’”)

(quoting Althen, 418 F.3d at 1280). Medical records are generally viewed as particularly

trustworthy evidence, since they are created contemporaneously with the treatment of the patient.

Cucuras v. Sec'y of Health & Hum. Servs., 993 F.2d 1525, 1528 (Fed. Cir. 1993).

However, medical records and/or statements of a treating physician's views do not per se

bind the special master to adopt the conclusions of such an individual, even if they must be

considered and carefully evaluated. Section 13(b)(1) (providing that “[a]ny such diagnosis,

conclusion, judgment, test result, report, or summary shall not be binding on the special master or

court”); Snyder v. Sec'y of Health & Hum. Servs., 88 Fed. Cl. 706, 746 n.67 (2009) (“there is

nothing . . . that mandates that the testimony of a treating physician is sacrosanct—that it must be

accepted in its entirety and cannot be rebutted”). As with expert testimony offered to establish a

theory of causation, the opinions or diagnoses of treating physicians are only as trustworthy as the

reasonableness of their suppositions or bases. The views of treating physicians should also be

weighed against other, contrary evidence also present in the record—including conflicting

opinions among such individuals. Hibbard v. Sec'y of Health & Hum. Servs., 100 Fed. Cl. 742,

18

749 (2011) (not arbitrary or capricious for special master to weigh competing treating physicians'

conclusions against each other), aff'd, 698 F.3d 1355 (Fed. Cir. 2012); Veryzer v. Sec'y of Health

& Hum. Servs., No. 06–522V, 2011 WL 1935813, at *17 (Fed. Cl. Spec. Mstr. Apr. 29, 2011),

mot. for review den'd, 100 Fed. Cl. 344, 356–57 (2011), aff'd without opinion, 475 F. App’x. 765

(Fed. Cir. 2012).

The third Althen prong requires establishing a “proximate temporal relationship” between

the vaccination and the injury alleged. Althen, 418 F.3d at 1281. That term has been equated to the

phrase “medically-acceptable temporal relationship.” Id. A petitioner must offer “preponderant

proof that the onset of symptoms occurred within a timeframe which, given the medical

understanding of the disorder's etiology, it is medically acceptable to infer causation.” de Bazan v.

Sec'y of Health & Hum. Servs., 539 F.3d 1347, 1352 (Fed. Cir. 2008). The explanation for what is

a medically acceptable timeframe must also coincide with the theory of how the relevant vaccine

can cause an injury (Althen prong one's requirement). Id. at 1352; Shapiro v. Sec'y of Health &

Hum. Servs., 101 Fed. Cl. 532, 542 (2011), recons. den'd after remand, 105 Fed. Cl. 353 (2012),

aff'd mem., 2013 WL 1896173 (Fed. Cir. 2013); Koehn v. Sec'y of Health & Hum. Servs., No. 11–

355V, 2013 WL 3214877 (Fed. Cl. Spec. Mstr. May 30, 2013), mot. for review den'd (Fed. Cl.

Dec. 3, 2013), aff'd, 773 F.3d 1239 (Fed. Cir. 2014).

B. Law Governing Analysis of Fact Evidence

The process for making determinations in Vaccine Program cases regarding factual issues

begins with consideration of the medical records. Section 11(c)(2). The special master is required

to consider “all [ ] relevant medical and scientific evidence contained in the record,” including

“any diagnosis, conclusion, medical judgment, or autopsy or coroner's report which is contained

in the record regarding the nature, causation, and aggravation of the petitioner's illness, disability,

injury, condition, or death,” as well as the “results of any diagnostic or evaluative test which are

contained in the record and the summaries and conclusions.” Section 13(b)(1)(A). The special

master is then required to weigh the evidence presented, including contemporaneous medical

records and testimony. See Burns v. Sec'y of Health & Hum. Servs., 3 F.3d 415, 417 (Fed. Cir.

1993) (determining that it is within the special master's discretion to determine whether to afford

greater weight to contemporaneous medical records than to other evidence, such as oral testimony

surrounding the events in question that was given at a later date, provided that such determination

is evidenced by a rational determination).

As noted by the Federal Circuit, “[m]edical records, in general, warrant consideration as

trustworthy evidence.” Cucuras, 993 F.2d at 1528; Doe/70 v. Sec'y of Health & Hum. Servs., 95

Fed. Cl. 598, 608 (2010) (“[g]iven the inconsistencies between petitioner's testimony and his

contemporaneous medical records, the special master's decision to rely on petitioner's medical

records was rational and consistent with applicable law”), aff'd, Rickett v. Sec'y of Health & Hum.

Servs., 468 F. App’x 952 (Fed. Cir. 2011) (non-precedential opinion). A series of linked

propositions explains why such records deserve some weight: (i) sick people visit medical

19

professionals; (ii) sick people attempt to honestly report their health problems to those

professionals; and (iii) medical professionals record what they are told or observe when examining

their patients in as accurate a manner as possible, so that they are aware of enough relevant facts

to make appropriate treatment decisions. Sanchez v. Sec'y of Health & Hum. Servs., No. 11–685V,

2013 WL 1880825, at *2 (Fed. Cl. Spec. Mstr. Apr. 10, 2013); Cucuras v. Sec'y of Health & Hum.

Servs., 26 Cl. Ct. 537, 543 (1992), aff'd, 993 F.2d at 1525 (Fed. Cir. 1993) (“[i]t strains reason to

conclude that petitioners would fail to accurately report the onset of their daughter's symptoms”).

Accordingly, if the medical records are clear, consistent, and complete, then they should

be afforded substantial weight. Lowrie v. Sec'y of Health & Hum. Servs., No. 03–1585V, 2005 WL

6117475, at *20 (Fed. Cl. Spec. Mstr. Dec. 12, 2005). Indeed, contemporaneous medical records

are often found to be deserving of greater evidentiary weight than oral testimony—especially

where such testimony conflicts with the record evidence. Cucuras, 993 F.2d at 1528; see also

Murphy v. Sec'y of Health & Hum. Servs., 23 Cl. Ct. 726, 733 (1991), aff'd per curiam, 968 F.2d

1226 (Fed. Cir. 1992), cert. den'd, Murphy v. Sullivan, 506 U.S. 974 (1992) (citing United States

v. United States Gypsum Co., 333 U.S. 364, 396 (1947) (“[i]t has generally been held that oral

testimony which is in conflict with contemporaneous documents is entitled to little evidentiary

weight.”)).

However, the Federal Circuit has also noted that there is no formal “presumption” that

records are accurate or superior on their face to other forms of evidence. Kirby v. Sec’y of Health

& Hum. Servs., 997 F.3d 1378, 1383 (Fed. Cir. 2021). There are certainly situations in which

compelling oral testimony may be more persuasive than written records, such as where records are

deemed to be incomplete or inaccurate. Campbell v. Sec'y of Health & Hum. Servs., 69 Fed. Cl.

775, 779 (2006) (“like any norm based upon common sense and experience, this rule should not

be treated as an absolute and must yield where the factual predicates for its application are weak

or lacking”); Lowrie, 2005 WL 6117475, at *19 (“[w]ritten records which are, themselves,

inconsistent, should be accorded less deference than those which are internally consistent”)

(quoting Murphy, 23 Cl. Ct. at 733)). Ultimately, a determination regarding a witness's credibility

is needed when determining the weight that such testimony should be afforded. Andreu, 569 F.3d

at 1379; Bradley v. Sec'y of Health & Hum. Servs., 991 F.2d 1570, 1575 (Fed. Cir. 1993).

When witness testimony is offered to overcome the presumption of accuracy afforded to

contemporaneous medical records, such testimony must be “consistent, clear, cogent, and

compelling.” Sanchez, 2013 WL 1880825, at *3 (citing Blutstein v. Sec'y of Health & Hum. Servs.,

No. 90–2808V, 1998 WL 408611, at *5 (Fed. Cl. Spec. Mstr. June 30, 1998)). In determining the

accuracy and completeness of medical records, the Court of Federal Claims has listed four possible

explanations for inconsistencies between contemporaneously created medical records and later

testimony: (1) a person's failure to recount to the medical professional everything that happened

during the relevant time period; (2) the medical professional's failure to document everything

reported to her or him; (3) a person's faulty recollection of the events when presenting testimony;

or (4) a person's purposeful recounting of symptoms that did not exist. La Londe v. Sec'y of Health

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& Hum. Servs., 110 Fed. Cl. 184, 203–04 (2013), aff'd, 746 F.3d 1334 (Fed. Cir. 2014). In making

a determination regarding whether to afford greater weight to contemporaneous medical records

or other evidence, such as testimony at hearing, there must be evidence that this decision was the

result of a rational determination. Burns, 3 F.3d at 417.

C. Analysis of Expert Testimony

Establishing a sound and reliable medical theory often requires a petitioner to present

expert testimony in support of his claim. Lampe v. Sec'y of Health & Hum. Servs., 219 F.3d 1357,

1361 (Fed. Cir. 2000). Vaccine Program expert testimony is usually evaluated according to the

factors for analyzing scientific reliability set forth in Daubert v. Merrell Dow Pharm., Inc., 509

U.S. 579, 594–96 (1993). See Cedillo v. Sec'y of Health & Hum. Servs., 617 F.3d 1328, 1339 (Fed.

Cir. 2010) (citing Terran v. Sec'y of Health & Hum. Servs., 195 F.3d 1302, 1316 (Fed. Cir. 1999).

Under Daubert, the factors for analyzing the reliability of testimony are:

(1) whether a theory or technique can be (and has been) tested; (2) whether the

theory or technique has been subjected to peer review and publication; (3) whether

there is a known or potential rate of error and whether there are standards for

controlling the error; and (4) whether the theory or technique enjoys general

acceptance within a relevant scientific community.

Terran, 195 F.3d at 1316 n.2 (citing Daubert, 509 U.S. at 592–95).

In the Vaccine Program the Daubert factors play a slightly different role than they do when

applied in other federal judicial settings, like the district courts. Typically, Daubert factors are

employed by judges (in the performance of their evidentiary gatekeeper roles) to exclude evidence

that is unreliable or could confuse a jury. By contrast, in Vaccine Program cases these factors are

used in the weighing of the reliability of scientific evidence proffered. Davis v. Sec'y of Health &

Hum. Servs., 94 Fed. Cl. 53, 66–67 (2010) (“uniquely in this Circuit, the Daubert factors have

been employed also as an acceptable evidentiary-gauging tool with respect to persuasiveness of

expert testimony already admitted”). The flexible use of the Daubert factors to evaluate the

persuasiveness and reliability of expert testimony has routinely been upheld. See, e.g., Snyder, 88

Fed. Cl. at 742–45. In this matter (as in numerous other Vaccine Program cases), Daubert has not

been employed at the threshold, to determine what evidence should be admitted, but instead to

determine whether expert testimony offered is reliable and/or persuasive.

Respondent frequently offers one or more experts in order to rebut a petitioner’s case.

Where both sides offer expert testimony, a special master's decision may be “based on the

credibility of the experts and the relative persuasiveness of their competing theories.”

Broekelschen v. Sec'y of Health & Hum. Servs., 618 F.3d 1339, 1347 (Fed. Cir. 2010) (citing

Lampe, 219 F.3d at 1362). However, nothing requires the acceptance of an expert's conclusion

“connected to existing data only by the ipse dixit of the expert,” especially if “there is simply too

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great an analytical gap between the data and the opinion proffered.” Snyder, 88 Fed. Cl. at 743

(quoting Gen. Elec. Co. v. Joiner, 522 U.S. 146 (1997)); see also Isaac v. Sec'y of Health & Hum.

Servs., No. 08–601V, 2012 WL 3609993, at *17 (Fed. Cl. Spec. Mstr. July 30, 2012), mot. for

review den'd, 108 Fed. Cl. 743 (2013), aff'd, 540 F. App’x. 999 (Fed. Cir. 2013) (citing Cedillo,

617 F.3d at 1339). Weighing the relative persuasiveness of competing expert testimony, based on

a particular expert's credibility, is part of the overall reliability analysis to which special masters

must subject expert testimony in Vaccine Program cases. Moberly, 592 F.3d at 1325–26

(“[a]ssessments as to the reliability of expert testimony often turn on credibility determinations”);

see also Porter v. Sec'y of Health & Hum. Servs., 663 F.3d 1242, 1250 (Fed. Cir. 2011) (“this court

has unambiguously explained that special masters are expected to consider the credibility of expert

witnesses in evaluating petitions for compensation under the Vaccine Act”).

D. Consideration of Medical Literature

Both parties filed medical and scientific literature in this case, but not all such items factor

into the outcome of this decision. While I have reviewed all the medical literature submitted in this

case, I discuss only those articles that are most relevant to my determination and/or are central to

petitioner’s case—just as I have not exhaustively discussed every individual medical record filed.

Moriarty v. Sec'y of Health & Hum. Servs., No. 2015–5072, 2016 WL 1358616, at *5 (Fed. Cir.

Apr. 6, 2016) (“[w]e generally presume that a special master considered the relevant record

evidence even though he does not explicitly reference such evidence in his decision”) (citation

omitted); see also Paterek v. Sec'y of Health & Hum. Servs., 527 F. App’x 875, 884 (Fed. Cir.

2013) (“[f]inding certain information not relevant does not lead to—and likely undermines—the

conclusion that it was not considered”).

ANALYSIS

Both testifying experts agreed that K.J. possesses a genetic variant that has played a role in

causing him to experience BTRBGD—a thiamine-transporting deficiency resulting in clear

neurologic deficits and other negative symptoms. They disagreed, however, whether vaccines can

cause BTRBGD to manifest, and also whether the facts of this case are sufficient to meet the

evidentiary requirements relevant to both Table and non-Table Program claims. Below, I address

the disputed issues of fact and law.

I. Petitioners Have Not Established a Table Encephalopathy

Previously in the course of litigation I informed Petitioners that I did not deem their Table

MMR vaccine-encephalopathy claim to be particularly strong. Petitioners, however, opted to

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persist in asserting it as a basis for liability. Now, having heard the evidence at trial, I find that my

preliminary views were correct, and the Table claim warrants dismissal.

According to the QAI applied to vaccine Table claims, a vaccinee is considered to have

suffered a Table encephalopathy if he or she manifests an injury encompassed in the definition of

an “acute” encephalopathy within the appropriate time period, and then a “chronic”

encephalopathy is present for more than six months after the immunization. 42 C.F.R. §

100.3(b)(2) (emphasis added). In accordance with the QAI, an acute encephalopathy without

seizure for infants under 18 months old (which would here include K.J.) must be sufficiently severe

to require hospitalization (regardless of whether the vaccinee is actually hospitalized), and it must

manifest within 5 to 15 days of vaccination. 42 C.F.R. §§ 100.3(a) and (b)(2)(i)(1). A chronic

encephalopathy exists if the change in mental state that began with the acute encephalopathy

persists for at least six months. 42 C.F.R. § 100.3(d)(1)(i). However, there is the express caveat

that

Individuals who return to their baseline neurologic state, as confirmed by clinical

findings, within less than 6 months from the first symptom or manifestation of onset or of

significant aggravation of an acute encephalopathy or encephalitis shall not be presumed

to have suffered residual neurologic damage from that event; any subsequent chronic

encephalopathy shall not be presumed to be a sequela of the acute encephalopathy or

encephalitis.

42 C.F.R. § 100.3(d)(1)(ii).

Petitioners cannot meet these strict requirements for their Table claim. First, and most

importantly, the record clearly establishes that K.J.’s post-vaccination symptoms manifested

outside the 5-15 day timeframe. The record establishes onset of K.J.’s weakness, lethargy, and

difficulty moving on January 21, 2017 – four days post-vaccination. Ex. 7 at 3107. This is too soon

to meet the Table requirement, even if by a single day. See generally Greene v. Sec'y of Health &

Hum. Servs., No. 11-631V, 2019 WL 4072110, at *18 (Fed. Cl. Spec. Mstr. Aug. 2, 2019) (noting

that a risk interval concept to expand the window of a Table Claim for a brachial neuritis injury

after receipt of a tetanus vaccine beyond the six-week timeframe by one day did not support a

medically acceptable onset timeframe), mot. for review den’d, 146 Fed. Cl. 655 (2020), aff'd, 841

F. App'x 195 (Fed. Cir. 2020).

Second, there is an absence of treater support for the conclusion that K.J.’s presentation in

January 2017 reflected the existence of an acute encephalopathy or encephalitis (either of which

are subject to the same Table requirements. 42 C.F.R. § 100.3(a)(II)(B)). While the possibility of

encephalitis was included in his initial differentials, treaters ultimately opined he more likely

suffered from some form of mitochondrial/energy production disorder – and in fact his BTRBGD

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is far more consistent with such a preliminary diagnosis than an acute encephalopathy. Ex. 7 at

3197. Finally, even if K.J.’s initial symptoms were found to be the product of an acute

encephalopathy, the record does not allow me to conclude his subsequent state resulted from an

ongoing chronic encephalopathy. Indeed, he came back to baseline in terms of symptoms not long

after his first manifestations of symptoms. Ex. 7 at 56. Rather, he had a neurologic disorder

attributable to an underlying genetic variant that caused concerning and damaging symptoms –

and that harm is not “encephalopathic,” as far as the Table goes, simply because it involves the

brain.

Accordingly, Petitioners’ Table claim is dismissed.

II. Petitioners Have Established Causation in Fact

Petitioners’ inability to meet the requirements of their Table claim leaves only a causation-

in-fact claim that the multiple vaccines K.J. received in January 2017 somehow precipitated the

manifestation of a neurologic disorder otherwise attributable to the SLC19A3 genetic variant.

Although Petitioners’ showing was far from robust, the evidence was sufficiently close for me to

find that the preponderant test for establishing entitlement was met overall.

A. Althen Prong One

The evidence offered for the contention that vaccines could trigger a child’s preexisting

SLC19A3 mutation by causing stress was quite thin – but just preponderant enough to meet

Petitioners’ burden. 9 Dr. Neira, a qualified geneticist as well as one of K.J.’s treaters, opined about

the causal role of the vaccines – and her opinion was backed up by several items of literature, as

well. Alfadhel & Tabarki at 83; Kevelam at 1542; Ortigoza-Escobar at 321; Schanzer at 270. In

effect, Petitioners seem to allege that the vaccines K.J. received would (likely via some innate

response, rather than a longer-term adaptive response, in which a vaccine’s specific antigens would

immunologically cause a cross-reaction) set the thiamine transport deficiency into motion.

Admittedly, this is not a case where the evidentiary support for the claimant’s causation

theory easily crosses the preponderance “line.” The statements from articles like Ortigoza-Escobar

or Kevelam associating vaccination to BTRBGD are facially conclusory, with little background

information provided to evaluate their basis or ascertain if the risk is higher or lower for different

vaccines. But at the same time, this is also not a case where Respondent can do more than declaim

9

In so concluding, I do not adopt Petitioners’ erroneous contention that mere plausibility is the standard to be applied

when evaluating success as to the first Althen prong. The Federal Circuit has consistently reiterated that the first prong

must meet the preponderant standard. Boatmon, 941 F.3d at 1360; McCollum v. Sec'y of Health & Hum. Servs., 760

F. App'x 1003, 1007 (Fed. Cir. 2019).

.

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that Petitioners have not themselves proven their case – and while such a defense can have

substance when the claimant over-relies on generalities, it does not invariably succeed.

More significantly, the limited scientific knowledge base pertaining to BTRBGD generally

is also harmful to Respondent’s defense. The experts herein agreed that BTRBGD has its origins

as a genetic mutation causing thiamine transport malfunction, and resulting in turn in energy

production deficits. But can it be concluded that when the relevant mutation exists, the result is

preordained – or can manifestation of the error caused by mutation be hastened, worsened, or

simply “unmasked” after an environmental stimulation, like a vaccine? In somewhat comparable

Program cases (such as seizure disorders, like Dravet syndrome, attributable to the SCN1A genetic

mutation), there exists direct, on-point literature suggesting that the anticipated disease course

otherwise attributable to the mutation/variant is not impacted by vaccination—even if vaccination

can temporarily produce a symptoms “flare.” See, e.g., Oliver v. Sec'y of Health & Hum. Servs.,

No. 10-394V, 2017 WL 747846 (Fed. Cl. Spec. Mstr. Feb. 1, 2017), mot. for review den’d, 133

Fed. Cl. 341 (2017), aff'd, 900 F.3d 1357 (Fed. Cir. 2018). Indeed, the special master in Oliver

found that the causal link between the relevant genetic mutation and the seizure disorder was

directly supported by literature that discounted the importance of an intervening environmental

factor like vaccination. Oliver, 2017 WL 747846, at *15. Such rebutting evidence was thus strong

enough to overcome the claimant’s position that a vaccine played some role in sparking symptoms

unquestionably linked to the mutation. See Deribeaux ex rel. Deribeaux v. Sec'y of Health & Hum.

Servs., No. 05-306V, 2011 WL 6935504, at *32 (Fed. Cl. Spec. Mstr. Dec. 9, 2011), review denied,

decision aff'd, 105 Fed. Cl. 583 (2012), aff'd, 717 F.3d 1363 (Fed. Cir. 2013).

Here, no such rebuttal evidence has been offered (and may well not even yet exist for the

SLC19A3 mutation) other than Dr. Raymond’s testimony. And his opinion seemed to over-rely

on his determination that there was an absence of scientific certainty favoring vaccine causation –

an evidentiary standard inapplicable to Program claims, even if a medical professional or scientist

would remain personally unconvinced (and reasonably so) by a special master’s entitlement

decision favoring a particular theory. Indeed, Dr. Raymond freely acknowledged that a variety of

environmental stressors were understood by medical science to be capable of taxing an affected

individual’s thiamine transport system sufficiently to cause manifestation of BTRBGD, and cited

reliable literature for this point. See Schanzer at 278–79. And he noted in his second report that

vaccination had been implicated in triggering clinical manifestations of BTRBGD. Second

Raymond Rep. at 7. He thus could not credibly deny that the causation theory offered in this case

exceeded mere plausibility.

Time and again, special masters are reminded that close calls are to be decided in a

petitioner’s favor. Roberts. v. Sec'y of Health & Hum. Servs., No. 09-427V, 2013 WL 5314698, at

*10 (Fed. Cl. Spec. Mstr. Aug. 29, 2013). That is the case not only when both sides offer numerous

items of persuasive and compelling evidence, but also where the evidence is quite limited (often

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because the disease process at issue is novel and/or under-studied). Andreu, 569 F.3d at 1378–79.

Although future cases may present updated evidence on the topic that weighs in favor of a different

outcome, the evidence presented in this case is sufficient to find that the “can cause” prong has

been met.

B. Althen Prong Two

I also find just enough support to establish a logical sequence of cause and effect from

vaccine to injury. Both the record itself and Dr. Neira’s testimony bulwark this conclusion. The

Program recognizes that treating physicians are in a good position to opine that a vaccination was

the reason for the injury. Capizzano, 440 F.3d at 1326. Dr. Neira provided treatment to K.J.,

demonstrated awareness of his clinical progression in her report, and engaged in an inquiring effort

to identify the cause and nature of K.J.’s symptoms by running whole genome sequencing tests to

cover every known genetic disorder in the human body. Thus, Dr. Neira’s view that the stress

induced by the vaccines caused a manifestation of BTRBGD is entitled to additional weight in

favor of Petitioners’ claim. Moreover, Dr. Trasmonte also allowed for this possibility as well (so

Dr. Neira was not the sole treater to propose an association between vaccine and injury). Ex. 11 at

37–38.

Respondent did attempt to bulwark his position that the genetic mutation best explained

K.J.’s BTRBGD by highlighting the fact that he experienced a relapse of sorts in April 2017. Ex.

11 at 33. Dr. Raymond speculates that this occurred because K.J. was no longer receiving thiamine,

as he did earlier that year, and this shows the kind of actual environmental impacts that would

trigger clinical manifestations. But this argument has two deficiencies.

First, the experts agreed that a thiamine transport deficiency (attributable to the genetic

mutation directly) precipitates symptoms. But this does not mean that other environmental factors

could not first stress the system sufficiently to cause the condition’s general unmasking (by

instigating the transport issue), and thus initiating the overall problem. 10 Indeed, as Petitioners

noted, K.J. experienced other potential stressors prior to vaccination, but those environmental

impacts did not similarly cause the same clinical symptoms. Ex. 7 at 167; Neira Rep. at 6; Second

Raymond Rep. at 10. And as noted above, Dr. Raymond himself offered literature that suggested

(albeit in a somewhat conclusory fashion) vaccines could have this impact on someone with

BTRBGD.

Second, Dr. Raymond’s contention regarding the cause of the relapse is not fully

corroborated by the record. Although there is evidence that certain feeding-related matters, like a

10

However, to the extent incomplete or inadequate treatment might best explain some of K.J.’s post-vaccination

symptoms flares or relapses, such matters do bear on recoverable damages, and I will take such issues into account in

the damages phase of the case.

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feeding tube, had been suspended by Petitioners prior to this relapse, the record does not allow me

to conclude that thiamine-specific treatments had been suspended – or if so when. His speculation

on this point was certainly reasonable (as was his suspicion that K.J.’s pre-vaccination health

issues could be harbingers of his later BTRBGD) – but it was not substantiated by record evidence,

and thus is not enough to go on for purposes of deciding this case.

C. Althen Prong Three

Neither side has presented a particularly powerful case regarding the “medical

acceptability” of the timeframe between K.J.’s vaccinations and onset of his BTRBGD initial

symptoms. Petitioners’ experts seemed to emphasize the close temporal relationship between

K.J.’s vaccines and the onset of his symptoms (First Carroll Rep. at 11; Neira Rep. at 2–3)—

something understood in the Program to be an insufficient basis for finding the third Althen prong

satisfied. de Bazan, 539 F.3d at 1352. But in attacking this aspect of Petitioners’ showing, Dr.

Raymond predominantly relied on record evidence of K.J.’s intervening improvements that

occurred during March and April of 2017. First Raymond Rep. at 12–13. This contention largely

ignores the primary question posed by this part of the entitlement test: whether the relationship

between initial symptoms and vaccination was acceptable in light of the alleged causation theory.

de Bazan, 539 F.3d at 1352.

A careful evaluation of Petitioners’ expert opinions, however, allows me to conclude that

this prong (like the two before it) was met, if barely. Dr. Neira was both a qualified geneticist and

treater, and I give weight to her opinion (based on both the genetic testing and K.J.’s overall

medical history) that K.J.’s BTRBGD was likely sparked in the four days after vaccination. Neira

Rep, at 6; see also Prehearing Brief at 8–9. Her opinion gained additional heft from the medical

literature offered in this case. Alfadhel & Tabarki at 91; Kevelam at 1539; Ortigoza-Escobar at

320. Although such literature does not contain a specific temporal prediction of expected onset of

BTRBGD after an environmental stressor, it is consistent with the conclusion that onset could

reasonably occur within days. Kevelam at 1541–42 (indicating that when there is a cerebral MRI

abnormality, such as in BTRBGD cases, it indicates rapid onset) (emphasis added). And the theory

offered in this case is consistent with other vaccine cases in which the stress impact of a large

number of vaccines administered at once, or a particularly potent vaccine, might (via the body’s

innate immune reaction) cause a reaction within days. See, e.g., Halverson v. Sec'y of Health &

Hum. Servs., No. 15-227V, 2020 WL 992588, at *27 (Fed. Cl. Spec. Mstr. Feb. 4, 2020) (finding

that there was a temporal relationship between receipt of the fluzone vaccine and the developing

injury that caused petitioner’s death four days after vaccination); see also Gerhardt v. Sec'y of

Health & Hum. Servs., No. 9-180V, 2014 WL 4712690, at *12 (Fed. Cl. Spec. Mstr. Aug. 29,

2014) (petitioner established a proximate temporal relationship between receiving five vaccines

and the onset of his neurologic symptoms three days later).

27

Respondent in reaction did not rebut this conclusion. Thus, I find the third Althen prong

was met.

CONCLUSION

As I have noted in other cases, Vaccine Program claimants can prevail despite the fact that

considerable uncertainty remains that they are in fact correct. “More likely than not” is an inexact

measurement of causation, to say the least.

Because of the rarity of the underlying genetic condition and lack of substantial research

into its pathophysiology, there remains much to learn about BTRBGD. It is conceivable that a

stronger showing by Respondent, relying on more up-to-date research into how this disease

progresses and what causes it to manifest in the first place, could cast doubt on my conclusion

herein – and result in an entirely different outcome in future cases. However, I find sufficient

preponderant evidence was offered in this case to support Petitioners’ contention that the receipt

of several vaccines at one time could trigger SLC19A3 variants, and did so here. Thus, I must

conclude on the basis of Petitioners’ showing that they have met their evidentiary burden, even if

that showing was not overwhelming.

In order to guide the parties through the damages phase of the action, a separate damages

order will issue.

IT IS SO ORDERED.

/s/ Brian H. Corcoran

Brian H. Corcoran

Chief Special Master

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