K.S.J., Jr. v. HHS - MMR, biotin-thiamine-responsive basal ganglia disease (BTRBGD) triggered by SLC19A3 gene variant activation (2024)

On October 4, 2018, Durenda Whitehead and Keynard Shawtell Johnson, Sr., filed a petition on behalf of their minor son, K.S.J., Jr. (K.J.), seeking compensation under the National Vaccine Injury Compensation Program. They alleged that the MMR vaccine K.J. received on January 17, 2017, caused him to suffer from encephalitis and encephalopathy.

In the alternative, they alleged that K.J.'s receipt of multiple vaccines on January 17, 2017, including the MMR, influenza, hepatitis A, DTaP, hepatitis B, IPV, PCV13, and varicella vaccines, caused the activation of his SLC19A3 gene variant, leading to SLC19A3-related encephalopathy. K.J. was born on November 30, 2015.

Prior to the vaccinations at issue, he had been hospitalized three times for respiratory-related conditions, including bronchiolitis and laryngomalacia. On January 17, 2017, K.J. received several routine childhood vaccinations.

Five days later, on January 23, 2017, he began exhibiting generalized weakness, fussiness, and difficulty with movement. Initial evaluations included a brain CT scan showing abnormalities in the basal ganglia and cerebral white matter.

K.J. was transferred to Scottish Rite Hospital, where further evaluations, including an MRI, revealed symmetric areas of abnormal signal in the basal ganglia, thalami, and cerebral cortex, concerning for metabolic or postvaccine encephalitis or ADEM. During his hospitalization, K.J. underwent EEG testing, which was normal.

An infectious disease consult deemed viral or bacterial encephalitis unlikely. A neurology consult considered ADEM but discounted its likelihood due to the MRI findings.

Laboratory testing revealed elevated serum lactate and pyruvate levels. K.J. was placed on thiamine and levocarnitine for a possible mitochondrial disorder.

He participated in inpatient rehabilitation and was discharged on February 21, 2017, with a predominant differential diagnosis of mitochondrial disease triggered by vaccination. In April 2017, K.J. was admitted for worsening ataxia and irritability, with a neurological exam showing reduced tone and head lag.

A repeat MRI showed results similar to the earlier one, and a neurologist suggested a possible metabolic/mitochondrial process, recommending genetic testing. K.J. was discharged with a diagnosis of possible metabolic/mitochondrial disease.

In January 2018, a brain MRI showed resolution of previously seen areas of acute injury. A neurological examination noted a mutation in the PHKA2 gene and impressions of spastic quadriplegic cerebral palsy and developmental regression after vaccinations and illness.

In October 2019, whole exome sequencing identified variants in the SLC19A3 gene. A genetic consultation in March 2020 assessed K.J. as most likely having biotin-thiamine-responsive basal ganglia disease (BTRBGD), consistent with his clinical picture and test findings.

At a hearing, K.J.'s mother testified about his normal development prior to the January 2017 vaccinations and his subsequent deterioration. K.J.'s father corroborated this account.

Petitioners' expert, Dr. Juanita Neira Fresneda, testified that K.J.'s SLC19A3 gene variants code for thiamine transporters crucial for mitochondrial energy production, and that a deficiency leads to BTRBGD.

She opined that BTRBGD can be triggered by stress, such as that caused by multiple vaccines, and that K.J.'s presentation was consistent with this. She noted that K.J. had experienced prior illnesses without similar neurological decline, suggesting the vaccines were the trigger.

Respondent's expert, Dr. Gerald Vincent Raymond, testified that K.J.'s condition was a progressive genetic neurodegenerative disorder (BTRBGD) that was not caused or exacerbated by the vaccinations, but rather was a condition he was born with.

He acknowledged that literature suggested environmental stressors could trigger acute episodes in BTRBGD patients but maintained that not enough was known to conclude vaccination could act as such an impetus. He also noted that K.J.'s condition appeared progressive, which he argued was inconsistent with an acute vaccine-induced injury.

Chief Special Master Brian H. Corcoran issued a ruling on entitlement on September 29, 2021.

He found that Petitioners had not established a Table encephalopathy claim, as K.J.'s symptoms manifested outside the required timeframe and lacked sufficient treating physician support for an acute encephalopathy diagnosis. However, he found that Petitioners had established causation in fact for a non-Table injury.

He determined that while the evidence was thin, it preponderantly established that the vaccines K.J. received likely triggered his preexisting SLC19A3 genetic mutation, manifesting as BTRBGD. He found that the medical literature and expert testimony supported a causal connection, a logical sequence of cause and effect, and a proximate temporal relationship between the vaccination and the injury.

On January 5, 2024, Respondent filed a proffer proposing an award of compensation. On March 25, 2024, Chief Special Master Corcoran issued a decision awarding damages based on this proffer.

The award included a lump sum payment of $1,616,572.94, comprising $250,000.00 for pain and suffering, $251,934.06 for first-year life care expenses, and $1,114,638.88 for future lost earnings. Additionally, an amount was awarded to purchase an annuity for ongoing life care expenses, with payments contingent on K.J. being alive.

The award was subject to Petitioners providing documentation of guardianship/conservatorship for K.J.'s estate. Petitioner counsel was Julius Vincent Cook, and Respondent counsel was Zoe Wade.

Special Master Brian H. Corcoran presided over the case.