# In the United States Court of Federal Claims

OFFICE OF SPECIAL MASTERS

Case No. 10

- 615V

Filed: March 7 , 2014

* * * * * * * * * * * * * * * * PUBLISHED

MELISSA DAVIS & CECIL DAVIS, SR., *

As the Parents and Natural Guardians of * Special Master Dorsey

C

. D

. J

. , an Infant, *

* Entitlement; Decision without Petitioners, * a hearing ; Ruling on the record;

* Pediarix; Prevnar; PedvaxHIB;

v. * RotaTeq; E ncephalopathy ; Seizures;

* Congenital disorder of glycosylation;

SECRETARY OF HEALTH * Mutation of PIGT gene

. AND HUMAN SERVICES, *

* Respondent. *

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

Mark Theodore Sadaka , Englewood, NJ, for petitioner s ; Justine Elizabeth Daigneault , U.S. Department of Justice, Washington, DC, for respondent.

DECISION ON ENTITLEMENT 1

I. Introduction

On September 14, 2010 , Melissa Davis and Cecil Davis, Sr. (“petitio ners”), as the parents

and na tural guardians of C

. D

. J

. , an infant, filed a petition for compensation under the National Vaccine Injury Compensation Program (“the Program” 2 ) , alle ging that numerous vaccinations, including Pediarix

, 3 Prevnar

, 4 PedvaxHIB

, 5 an d RotaTeq 6 that C.D.J. received on September 26,

1 This Decision was originally f iled on February 19, 2014. On M a rch 5, 2014 , petitioners requested a redaction. The motion was granted in an Order filed on Mar ch 7, 2014. In the reissued version, the minor child’s birth date is redacted and this footnote is changed to reflect the redaction. The remainder of the Decision is unchanged.

2 The Program comprises Part 2 of the National Childhood Vaccine Injury Ac t of 1986, 42 U.S.C. §§ 300aa

- 10 et seq . (hereinafter “Vaccine Act” or “the Act”). Hereafter, individual section references will be to 42 U.S.C. § 300aa of the Act.

3 Pediarix consists of diphtheria

- tetanus

- acellular

- petussis (“DTaP”), hepatitis B, and i nactivated polio virus (“IPV”) vaccines. See Centers for Disease Control & Prevention, Pediarix Vaccine: Questions and Answers

, http://www.cdc.gov/vaccines/vpd

- vac/combo

- vaccines/pediarix/faqs

hcp

- pediarix.htm

.

12007, caused him to suffer from epileptic seizures and hypotonia

. 7 Petition at 1. The medical records and other information in the record, however, do not support a finding that p etitioners are entitled to compensation under the Program.

Under the Program, petitioners may not receive compensation based solely upon their claims. In order to receive compensation, the petition must be supported by either medical

records or by the opin ion of a qualified phy sician proving a causal relationship. See § 300aa

13(a)(1). Here, the medical records do not support petitioners’ claims, so a medical opinion is required. Id. Petitioners have offered the opinion of Dr. Garrett C. Burris, a pediatric neurologist. See Petitioners’ Exhibit (“Pet’rs’ Ex.”) 13 at 1. But, as described in detail below, Dr. Burris’ opinion fails to provide support for the elements necessary to prove causation. Additionally, petitioners have failed to provide any expert report or opinion ad dressing the fact

that C.D.J. has been diagnosed with an inherited genetic disorder, which is a “congenital disorder of glycosylation 8 with two mutations in the PIGT gene.” Pet’rs’ Ex. 45 at 1. 9 For these reasons, and the reasons discussed below, petitio ners have failed to demonstrate that they are entitled to compensation.

II. Procedural History

4 Prevnar 13 is a pneumococcal conjugate va ccine, also known as PCV 13. See Centers for

Disease Control & Prevention, Pneumococcal Vaccination

, http://www.cdc.gov/VACCINES/vpd

- vac/pneumo/default.htm

.

5 Pedvax HIB is a Haemophilus inflenzae type b vaccine which prevents meningitis (an infection

of the covering of the brain and spinal cord), pneumonia (lung infection), epiglottitis (a severe throat infection), and other serious infections caused by a type of bacteria called Haemophilus influenza type b. See Centers for Disease Control & Prevention, Hib Vaccination

, http://www.cdc.gov/Vaccines/vpd

- vac/hib/default.htm

.

6 RotaTeq is a vaccine used to prevent severe rotavirus disease in infants and children. See

Centers for Disease Control & Prevention, Statement Regarding Rotarix and RotaTeq Rotavirus Vaccines and Intussusception

, http://www.cdc.gov/vaccines/vpd

- vac/rotavirus/intussusception

studies

- acip.htm

.

7 Hypotonia is “a condition of diminished tone of the skeletal muscles, so that they have diminished resistance to passive stretching and are fl accid.” Dorland’s Illustrated Medical Dictionary (32d ed. 2012) (“ Dorland’s ”) at 907.

8 Glycosylation is “the formation of linkages with glycos y l groups.” Dorland’s at 794

.

9 Petitioners have filed another petition for compensation on behalf of their o ther child, C

. D

. , in which they allege that the same vaccines C.D.J. received caused the same injuries C

. D

. suffered.

See Davis v. Sec’y of Health & Human Servs ., No. 09

- 684V. A similar Decision has issued in

that case. See Davis v. Sec’y of Health & Hu man Servs. , No. 09

- 684V, Decision , filed F ebruary

19 , 2014.

2Petitioners filed their action for compensation on September 14, 2010, and the case was initially assigned to Special Master Gary Golkiewicz. Petitioners filed numerous medical

records related to C.D.J. ’s birth and medical care on November 23, 2010

. The case was

re assigned to Special Master Dee Lord on December 7, 2010. Respondent filed her R eport pursuant to Vaccine Rule 4(c) , in which she stated that the medi cal personnel of the Division of Vaccine Injury Compensation had reviewed the petition and medical records and concluded that petitioners had not proven that C.D.J. ’s injury had been caused by the vaccine(s), and that the

case was therefore not appropriate for compensation under the Program. Respondent’s Report (“Resp’t’s Rep’t”) , filed February 22, 2011

, at 2.

On August 11, 2011, and February 1, 2012, petitioners filed the expert report and supplemental expert report of Dr. Garrett Burris. Pet’rs’ Ex

. 13 ; Pet’rs’ Ex. 18. On June 11, 2012, respondent filed the expert report of Dr. Gerald V. Raymond. Respondent’s Exhibit (“Resp’t’s Ex. ”) A.

P etitioners were ordered to file an amended petition to clarify their allegations, Order

, filed July 13, 201 2, whi ch they did on August 3 , 2012. In their amended petition, petitioners allege that C.D.J. “developed vaccine

- induced encephalopathy resulting in epileptic seizures and hypotonia after receiving second doses of Pediarix, Prevnar, PedvaxHIB and Rota t eq on September 26, 2007.” Amended Petition (“ Am. Pet. ”) at 1. Petitioners further allege that C.D.J.

was a ssessed as a “well child” prior to the stated vaccines but that h e had an “undiagnosed

condition . . . generally termed as a ‘metabolic disorder ’” an d that persons with “metabolic disorders” are more susceptible to vaccine

- related in jury. Id. at 3. Petitioners allege that PedvaxHIB “contains antigens that induce the body to produce antibodies to the disease.” Id.

These antibodies can “cross

- react w ith antigens similar to what is contained in the vaccine.” Id.

at 4.

Petitioners allege that C.D.J. had his first sei zure on October 1, 2007, about six days after receiving the vaccinations at issue. Id. His seizure activity consisted of “severe jerk ing of his upper and lower extremities.” Id. Then

, in December 2007, C.D.J. had jerking in his face. Id. In January 2008, C.D.J. was hospitalized with “pneumonia and status epilepticus.” Id. A s a result of receiving vaccinations on September 26, 2007

, petitioners allege that C.D.J. suffered a regression of his motor skills

, constant seizures, encephalopathy, epilepsy , and a decrease in his

muscle tone

. Id. at 4

.

Notwithstanding the submission of Dr. Burris’ expert report and supplemental ex pert

r eport, counsel for petitioners indicated during a November 29, 2012, status conference that they would likely be switching experts in the near future. Order , filed Nov

. 30, 2012 , at 1

. On January 28, 2013, petitioners filed a status report stating that a lthough they had mad e

“ continuous efforts

, ” they had been unable to find a new expert. See Status Report , filed Jan. 28, 2013, at 1.

On February 22, 2013, the case was re assigned to the undersigned, and a status
conference was held on Marc h 28, 2013. During the status conference, petitioners were ordered

to file an expert report by Ma y 31, 2013. Order , filed Mar. 28, 2013 , at 1

- 2

. Additional medical records were filed on March 29, 2013. On May 31, 2013, p etitioners filed a n unopposed motion

for an e xtension of time until July 30, 2013 , to file an expert report. T hat motion was granted.

3Order , filed May 31, 2013. On July 30, 2013, petitioners filed another motion for an extension of time in which to file an expert report, until August 29, 2013. Ag ain, that motion was granted.

Order , filed July 30 , 2013 , at 1

. Meanwhile, petitioners were also investigating the results of genetic testing that had been performed on C.D.J. , so that the results of such testing could be

obtained and filed. See Status Report , filed Aug. 16, 2013 , at 1

. P etitioners did not file an expert report by August 29, 2013, as ordered.

A subsequent status conference was held on September 3, 2013. During the status conference, counsel for petitioners stated that petitioners int ended to file a motion for a decision on the record. The issue of genetic test results was again discussed and the petitioner was

ordered to obtain and file all records from the National Institutes of Health (“NIH”) and all results regarding any genetic t esting. See Order

, filed Sept

. 18 , 2013 , at 1. A motion for judgment on the administrative record was filed o n October 17, 2013, and a letter from the NIH Undiagnosed Diseases Program, reporting on C.D.J. ’s genetic tests results, was filed o n October 31, 2013

. Pet’rs’ Ex. 45 . Petitioners also filed a status r eport stating that petitioners had been

informed that both C.D.J. and C.D. had received a confirmed diagnosis of a “congenital disorder of glycosylation with two different mutations in the PIGT gene . This diagnosis is an inherited

autosomal recessive disease.” Status Report

, filed Oct

. 31, 2013 , at 1

.

Respondent filed a response to petitioners’ motion for judgment on the administrative record on January 17, 2014

. Res pondent argues that Dr. Burr is’ “opinion regarding the genetic

nature of [ C.D.J. ] ’s condition is simply incorrect” and that “there is no reliable evidence that any

of [ C.D.J. ] ’s clinical manifestations were caused or exacerbated by any of the immunizations that he received.” Respond ent’s Response to Petitioner’s Motion for a Decision on the Record (“Resp’t’s Resp.”), filed Jan. 17, 2014, at 16. Rather, respondent claims that all of C.D.J. ’s “symptoms . . . are presentations of [his] . . . genetic disorder.” Id. at 14. Thus, r espon dent

asserts that

, “[o]n the present record, petitioners have clearly failed to meet their burden of proving by preponderant evidence that C.D.J. ’s vaccinations either caused his inj ury or significantly aggravated his preexisting condition.” Id. at 1.

Th e case is now ripe for a ruling on petitioner s ’ motion for judgment on the

administrative record.

III. Summary of Relevant Medical Records and Other Filed Exhibits

C.D.J. was born on [redacted] , at thirty

- one weeks gestation. Pet’rs’ Ex. 2 at 41

- 4 2. He was apneic 10 at birth and required ventilation by bag and mask and ventilator. Pet’rs’ Ex. 11 at

525. His Apgar score s were 4, 5 and 7 at 1, 5, and 10 minutes , respectively

. Id. C.D.J. was unresponsive to tactile stimulation, jittery

, and had significa nt tremors of his lower extremities.

Pet’rs’ Ex. 2 at 43. C.D.J. was admitted to the neonatal intensive care unit ( “ NICU ” ) from the date of his birth until he was discharged on June 27, 2007. Pet’rs’ Ex. 2 at 41

. During this admission, he was diagnosed with numerous problems, including respiratory distress syndrome, prematurity, suspected sepsis, apnea, and feeding difficulties. Id. C.D.J. ’s family history was significant in that he had a one

- year

- old sister

, C.D.

, who had been diagnosed with a metabo lic disorder and significant cognitive and motor developmental delay. Id. at 42. C.D. also had a

10 Apnea is a “cessation of breathing.” Dorland’s at 116.

4complex epilepsy disorder and a suspected mitochondrial disorder, but there was no specific diagnosis for her condition. Id. at 42.

C.D.J. ’s physical exa m in the NICU was significant in that he had dysmorphic facial

characteristics and prominent gum ridges. Id. at 44 . He had myoclonic 11 jerks and jitteriness

with immature motor control. Id. He also had periodic tremors in his hands and clonus 12 of his

an kles. Id. C.D.J. had cardiac abnormalities, including dilated right atrium, atrial septal defect 13
with a left to right shunt

, atrial septal aneurysm, 14 and dysplastic tricuspid value. 15 Id. at 43.

C.D.J. had poor feeding with periods of apnea during fee dings. Id. On C.D.J. ’s discharge from the NICU, a g enetics consult was recommended. Id. at 46. C.D.J. was suspected to have a mucolipidosis disorder. Id. ; Pet’rs’ Ex. 35 at 7.

On July 2, 2007, C.D.J. was referred to the Arkansas infant and toddler program, First Connections, for premature birth, possible developmental delay, and an occupational therapy

evaluation. Pet’rs’ Ex. 5 at 62

- 63. On August 6, 2007, when C.D.J. was 2 months and 21 days old, a n o ccupational therapy (“OT”) evaluation was d one by Ms. Carly Hill, OTR/L, which

revealed slight delays in fine motor skills, prematurity, low muscle tone, and tremors. Id. at 93,

96. C.D.J. was also noted to have frequent tremors and jitteriness of his extremities. Id. at 94.

C.D.J. had limited ran ge of motion, generalized hypotonia, poor head control, delayed visual

behaviors

, and was unable to track objects. Id

. at 94

- 95.

At his two

- month well child vis it on July 9, 2007

, C.D.J. ’s pediatrician, Dr. Carl Eng mann , noted abnormal findings on physi cal examination, including heart murmur, “coarse

features ,” tremors and jitteriness, and clicks in the hips and right shoulder. Pet’rs’ Ex. 32 at 1. Dr. Englema n’s assessment was “? metabolic disorder.” Id

.

At a subsequent visit on July 25, 2007, C.D .J. ’s mother was concerned that he was sleeping too much. Id. at 2. At that visit, C.D.J. received his first doses of Pediarix , Prevnar,

PedvaxHIB and RotaTeq

. Id.

11 Myoclonus is “shocklike contractions of a portion of a muscle, an entire muscle, or a group of muscles, restricted to one area of the bod y or appearing synchronously or asynchronously in

several areas.” Dorland’s at 1222.

12 Clonus is an “alternate muscular contraction and relaxation in rapid succession.” Dorland’s at

373.

13 An atrial septal defect is a congenital cardiac anomaly where t here is a persistent patency of the atrial septum due to failure of fusion between either the septum secundum or the septum primum and the endocardial cushions

. Dorland’s at 476

.

14 An atrial septal aneurysm is “a rare malformation of the interatrial sept um in which the sac protrudes into one of the atria.” Dorland’s at 82.

15 Dysplastic tricuspid valv e means abnormal development of the tricuspid valve of the heart.

See Dorland’s at 1965.

5C.D.J. returne d to his pediatrician for his four

- month visit on September 26, 2007. I d. at

3. At that visit, C.D.J. was noted to have tightness in his muscles and

, again, the family expressed concerns about the fact that he was sleeping a lot, was fussy , and cried a lot

. Id

. At that visit, C.D.J. received his second doses of Pediarix, P revnar, PedvaxHIB

, and Rota T eq. Id.

Based upon a history given by C.D.J. ’s mother to Gretchen A. Golas, C.R.N.P.

, on May 19, 2009, at the NIH

, C.D.J. b ega n having jerking of his arms and legs on October 1, 2007, one week after receiving his second set of vaccinations , when he was about five months old

. Pet’rs’

Ex. 11 at 526 , 529

. There are no contemporaneous medical records that document the events of October 1, 2007.

On December 12, 2007, at about seven months of age, C.D.J. presented to his pediatr ician

with c old and cough symptoms. Pet’rs’ Ex. 32 at 4. He was diagnosed with an upper respiratory

illness. Id. In the notes for that visit there is no reference to the events of October 1, 2007, regarding C.D.J. having jerking of his arms and legs

.

On December 19, 2007, the pediatrician’s office notes document that C.D.J. had six seizures on the previous day, and that he had rhinorrhea, 16 hypotonia

, and motor delay. Id. at 5.

The office recor ds from that visit state that “M om has noticed some twitc hing

... of his upper limbs as well as dropping his head.” Id

. at 6

. C.D.J. was diagnosed with a possible seizure

disorder. Id. C.D.J. rec eived his third doses of Pediarix , Prevnar

, and Rota T eq at that visit. Id.

at 5. On December 20, 2007, an EEG was performed

, which was interpreted as normal, although it was noted that the study was technically difficult. Pet’rs’ Ex. 41 at 1

.

Moving forward to 2008, on January 4, 2008, C.D.J. was noted to have hypotonia, jerking movements of both upper and low er extremities, an absent walking reflex, and moderate to severe delay in his gross motor skills. Pet’rs’ Ex. 5 at 88

- 91 . In February 2008, C.D.J. had an

EEG

, which was abnormal and consistent with generalized epilepsy. Pet’rs’ Ex. 11 at 526. On

March 8, 2008, C.D.J. presented to the emergency department at North West Medical Center

with seizures and a temperature of 102.7 oF

. Pet’rs’ Ex. 6.1 at 104. Physical examination was significant for mild microcephaly. 17 Pet’rs’ Ex. 6.2 at 112 . Past history was notable for

“con genital developmental delay . . . and mitochondrial abnormality .” Id.

On May 2 0, 2008, C.D.J. received his one

- year vaccinations, including MMR, Varicella,

H epatitis A

, and Prevnar

. Pet’rs’ Ex. 32 at 11

. A barium swallow test perform ed in June 2008

revealed that C.D.J. had a weak suck, delayed swallow, and incoordination of suck and swallow.

Pet’rs’ Ex. 8.1 at 163. In August 2008, when C.D.J. was 14 months old, he was noted to have

had no progression in his develop ment since age fiv e months. Pet’rs’ Ex. 11 at 526. He was not able to sit, roll or track objects. Id. His d iagnosis was intractable myoclonic epilepsy and developmental delay

. Id. He was also noted to have “coarse features similar to his sibling’s.”

Id

.

16 Rhinorrhea is “the free discharge of a thin nasal mucus.” Dorl and’s at 1640

.

17 Microcephaly is “abnormal smallness of the head, usually associated with mental retardation.”

Dorland’s at 1157

. 6On August 6, 2008, Dr. Rolla Shbaro u, pediatric neurologist, diagnosed C.D.J. with “intractable myoclonic epilepsy, developmental delay, visual impairment, [and] course facial

features.” Pet’rs’ Ex. 14.4 at ACH 332. In December 2008, C.D.J. was hospitalized for st atus epilepticus, pneumonia, respiratory failure, and increased seizures. Pet’rs’ Ex. 11 at 526. At that time, C.D.J. required intubation and ventilation. Id. at 527 ; Pet’rs’ Ex. 8.2 at 197. A c hest x

- ray showed cardiomegaly 18 and an e cho cardiogram show ed a l arge left to right shunt through the atrial septal defect , along with other abnormalities. Pet’rs’ Ex. 11 at 527

. In January 2009,

C.D.J. had a gastronomy tube placed for feeding due to his history of aspiration and pneumonia.

Id. ; see a lso Pet’rs ’ Ex. 8.9 at 286

.

At age 2, from May 18 to 22 , 2009, C.D.J. was admitted to the NIH Undiagnosed Disease

P rogram for evaluation by Gretchen A. Golas

, C.R.N.P.

, and Dr. William A. Gahl. They

documented that his “[c]oarse features and tapered fingers sugg est a storage disorder or other syndrome

. ” Pet’rs’ Ex. 11 at 515. C.D.J. was noted to have bilateral corneal clouding, high triglycerides, aminoaciduria, 19 osteopenia, 20 and immunoglobulin A (“IgA”) deficiency. Id. at

519. C.D.J. was also diagnosed wit h “profound global developmental delay ,” “epileptic encephalopathy ,” atrial septal defect with “significant left to right shunt with right cardiomegaly

, ” hypotonia

, and dysmorphic features. Pet’rs’ Ex. 11 at 519. On discharge, genetic tests were pending

. Id.

On July 21, 2009, C.D.J. had closure of his atrial septal defect by Dr. Paul Seib

. Pet’rs’

Ex. 14.13 at 940. C.D.J. continued to have severe progressive encephalopathy. C.D.J. ’s condition continued to progressively worsen over time. Moving fo rward to 2011, an MRI performed on April 7, 2011

, showed “cerebellar and possibly brainstem atrophy.” Pet’rs’ Ex.

14.1 at 7. On June 20, 2011, Dr. Tonya Balmakund documented that C.D.J.

, at that time age 4,

had a neurodegenerative disease and intractabl e epilepsy with a markedly abnormally EEG.

Pet’rs’ Ex. 14.1 at 83

- 84.

Genetic testing with a final report date of February 12, 2013, identified that C.D.J. had 49 “clinically novel” genes. Pet’rs’ Ex. 37 at 2. “A clinically novel gene is a previousl y undescribed gene, not currently known to underlie a genetic condition.” Id. The results indicated that “the underlying cause of the p atient’s clinical symptoms has not been discovered.”

Id. Phosphatidyl inositol g l ycan anchor biosynthesis, class T ( PI GT ) was one of the novel genes

identified. Id. at 3.

N eurology clinic notes dated June 6, 2013

, by Dr. Balmakund, describe C.D.J. as a “6

- year

- old little boy with a history of intractable epilepsy and significant encephalopathy and hypotonia related to an underlying neurodegenerative disorder of uncertain etiology.” Pet’rs’ Ex.

38 at 3. Dr. Balmakund noted that the family history is “remarkable for a sibling with a similar

disease .” Id. On July 20 , 2011, C.D.J. was seen by Dr. Jerie B. Karkos, for re habilitative

18 Cardiomegaly is “abnormal enlargement of the heart from either hypertrophy or dilatation.”

Dorland’s at 294.

19 Aminoaciduria is “an excess of amino acids in the urine.” Dorland’s at 61.

20 Osteopenia is “any decrease in bone mass below the normal.” Dorland’s at 1347.

7se rvices, who noted that C.D.J. had microcephaly with a head circumference in the 2% ran ge. Pet’rs’ Ex. 14.1 at 31

. On July 25, 2011, Dr. Balmakund and C.D.J. ’s mother corresponded by email, and Dr. Bal makund explained that C.D.J. ’s and C.D. ’s condition s were not due to any

a lternative acquired disease, and that the “children are word for word out of texts for several metabolic and neurodegenerative diseases.” Id. at 7 5

- 76.

On October 29, 2013

, petitioners received a letter from Ms. Golas and Dr. Cynthia J.

Ti fft, Director of the NIH Pediatric Un diagnosed Diseases Program

. Pet’rs’ Ex. 45

. The letter states, in pertinent part, the following:

This letter is to confirm our recent phone conversation regarding the molecular diagnosis

of a con genital disorder of glycosylation with two different mutations in the PIGT gene for both your children, [ C.D. ] and [ C.D.J. ] . . . . Both [ C.D. and C.D.J. ] have inherited an autosomal recessive disease called a congenital disorder of glycosylation involving

mutations in the PIGT gene. The complex pathway of glycosylation involves many different genes participating in the biochemical process of adding and removing sugars to/from proteins. PIGT is a gene that has been only very recently identified (May 2013) in the medical literature as an additional cause of a type of congenital disorders of glycosylation with the feature of intellectual disability.

Id . at 1.

Petitioners subsequently filed a copy of a medical article referenced in the above letter. 21

The a rticle reports on the “novel autosomal reces sive syndrome , characteris ed by distinct facial features, intellectual disability, hypotonia and seizures, in combination with abnormal skeletal

, endocrine

, and ophthalmologic findings.” Pet’rs’ Ex. 46 at 1. Th e authors examined four patients with a similar phenotype, using whole exome sequencing and identified a “homozygous mutation, c.547A>C

. . . in PIGT

. ” Id. at 1. Further study revealed that this mutation was the

cause of a “novel autosomal recessive inte llectual disability syndrome.” Id. Patients with PIGT

mu tations have clinical findings which include hypotonia, mild microcephaly, impaired motor and cognitive development, severe motor and intellectual disability, abnormal brain imaging

, seizures, initi ally normal EEG with subsequent development of seizures, impaired vision, renal abnormalities, skeletal abnormalities, cardiac abnormalities, mild dysmorphic facial features, and global cerebral atrophy. Id. at 2

- 3

. The authors conclude that they have fo und “strong evidence that a syndrome of intellectual disability, hypotonia, seizures , and skeletal and ophthalmologic findings seen in the patients of this study is caused by mutations in PIGT

. ” Id

. at 7.

IV. Expert Opinion

On August 11, 2011, pe titioners filed the expert report of Dr. Garrett C. B urris, a child neurologist. Pet’rs’ Ex. 13. In his report, Dr. Burris provided a brief summary of medical facts beginning with C.D.J. ’s birth and ending with a short paragraph about C.D.J. ’s admission to the

21 Pet’rs’ Ex. 43, Malin Kvarnung

, et al., “A novel intellectual disability syndrome caused by

GPI anchor deficiency due to homozygous mutations in PIGT ,” 50 J. MED. GENETICS 8, 521

- 28 (August 2013).

8NIH in May 2009. Id. at 1

- 2. Dr. Burris omitted from his report pertinent facts

, such as C.D.J. ’s “[c]oarse features and tapered fingers [which] suggest a storage disorder or other syndrome

, ” or his bilateral corneal clouding, high triglycerides, aminoaciduria, osteopenia, and IgA deficiency.

See Pet’rs’ Ex. 1 1 at 515, 519. Dr. Burris failed to note that when C.D.J. was discharged from the NIH, genetic tests were pending. Id. at 519. Dr. Burris also failed to reference any records after 2009, a lthough his report is dated August 9, 2011. Most notably, there is no reference to

C.D.J. ’s genetic mutation in Dr. Burris’ report.

Dr. Burris opined that within a reasonable degree of medical certainty, C.D.J. had vaccine induced acute encephalopa thy, consisting of “seizures and decreased consciousness lasting fo r longer than 24 hours .... occur [ ring ] within 5 days after the administration of vaccines. ” Pet’rs’

Ex. 13 at 567. Dr. Burris also opined that C.D.J. had chronic encephalopathy, “severe gl obal developmental retardation” and refractory seizures. Id. Dr. Burris concluded that “[t]he

presence of acute encephalopathy and developmental regression with chronic encephalopathy following administration of vaccine is consistent with vaccine induce d encephalopathy. There are no other causes of encephalopathy in this case.” Id.

In a supplemental expert report, Dr. Burris opined that C.D.J. had a metabolic disorder which made him more susceptible to developing an abnormal immune response to the

va ccinations. Pet’rs’ Ex. 18 at 1 . Dr. Burris stated that metabolic disorders produce a chronic inflammatory state. Id. Dr. Burris further stated that antigens , which are foreign substances that cause an immune response, elicit the production of antibodi es , and that “[v]accinations are specifically designed to elicit this immune response resulting in the production of antibodies

. ”

Id. The risk of developing an autoimmune disease increase s when vaccines are given to a “patient with a chronic inf lammatory condition caused by metabolic disorder s ,” like C.D.J. ’s. Id.

Dr. Burris identified four theories of autoimmunity: “molecular mimicry, bystander activation, persistent viral infections and fertile field.” Id. Generally, Dr. Burris believed that

the re are two causal pathways of autoimmune epilepsy and encephalopathy

– one is “that the body produces auto

- antibodies for specific proteins necessary for proper neurological function.”

Id

. at 2 . The second is that an “increased number of antibodies can t rigger seizures and encephalopathy.” Id. Dr. B urris did not know which causal pathway might be relevant in

C.D.J. ’s case. I d. But he concluded that the “record clearly shows the development of seizures within days after vaccination and both children su ffer from ch ronic inflammation caused by

metabolic disorder.” Id.

Respondent filed the expert report of Dr. Gerald V. Raymond, a neurologist and clinical geneticist, and the Director of Neurogenetic s Research at the Johns Hopkins School of Medicine

. R esp’t’s Ex.s A and B at 1. Dr. Raymond has an active clinical practice evaluating children with genetic disorders, including those with “progressive neurodegenerative disorders.” Resp’t’s Ex.

A at 4.

In his report, Dr. Raymond not ed that C.D.J. demons trated motor abnormalities as documented in his NICU stay after birth, and that he also had “dysmorphic facies

, ” i ncluding “prominent gum ridges.” Id

. at 1. After discharge from the NICU, he was referred to the Infant and Toddlers Program and in August 2 007, where Ms. Hill, OT R/L, noted that C.D.J. had frequent tremors and jitteriness

. Id. C.D.J. had other abnormalities including limited range of

9motion, generalized hypotonia , and poor head control

. Id. at 1. In addition, he had “delayed

visual behavi ors and would not track any objects.” Id. C.D.J. subsequently developed seizures, on or about October 1, based upon family recollection. Id. at 2. Dr. Raymond described C.D.J. ’s history of seizures, abnormal EEG findings, hypotonia and severe global de velopmental delay

. Id. at 2

- 3. He noted that C.D.J. was evaluated by Dr. Andrea Gropman, who documented

C.D.J. ’s “course features” and tapered fingers, which were “suggestive of a storage disease .” Id

. at 3. Dr. Raymond also noted that C.D.J. had micr ocephaly , and that an MRI showed cerebellar and brainstem atrophy. Id. at 4.

Dr. Raymond explained that C.D.J. and his sister have a genetic disorder, which is probably autosomal recessive. Id. at 5. Dr. Raymond described the basis f or his opinions, and provided a brief overview of autosomal recessive genetic disorders and how they occur. Id. He

recommend ed that C.D.J. have whole exome sequencing testing to determine a genetic diagnosis.

Id. at 6. Dr. Raymond conclude d that “to a reasonable degree of medical certainty” C.D.J. has a “genetic epileptic encephalopathy wit h dysmorphic features that were present at the time of

birth.” Id. at 6

. Dr. Raymond rejected the notion that C.D.J. ’s injuries were caused by or exacerbated by vaccinations. Id. a t 6

- 7.

Dr. Raymond disagreed with the opinions set forth by Dr. Burris. Fir st, Dr. Raymond

stated that C.D.J. did not have acute encephalopathy because he did not have any “alteration of consciousness at the time of onset of seizures beyond the brief ev ents themselves. ” Id. a t 6. Second, Dr. Raymond opined that C.D.J. does not have various metabolic disorders; rather , he

has a single genetic condition. Id. Third, C.D.J. ha s demonstrated many times that he respon ds appropriately to infections and that he does not have an “abnormal immune response.” Id. Fourth, there wa s no evidence or documentation to suggest that C.D.J. ha s had any adverse

reaction to vaccines. Id. None of C.D.J. ’s treati ng physicians ha s diagnosed him with a vaccine

related diso rder and

, in fact, his treating physicians ha ve continued to administer vaccinations to

C.D.J.

. Id. Fifth, while Dr. Raymond agreed that there are neurological conditions caused by antibodies, such conditions would not explain C.D.J. ’s congenital abnorma lities and dysmorphic

features. Id. Dr. Raymond opined that “there is substantial evidenc e that he has exactly the same [ genet ic] condition as his older sister.” Id.

V. Standards for Adjudication

– Causation

The Vaccine Act established the Program to c ompensate vaccine

- related injuries and deaths. § 300aa

- 10(a). “Congress designed the Vaccine Program to supplement the state law civil tort system as a simple, fair and expeditious means for compensating vaccine

- related injured persons. The Program was established to award ‘vaccine

- injured persons quickly, easily, and with certainty and generosity.’” Rooks v. Sec’y of Health & Human Servs. , 35 Fed. Cl. 1, 7 (1996) (quoting H.R. Rep. No. 908 at 3, reprinted in 1986 U.S.C.C.A.N. at 6287, 6344).

To est ablish causation in fact, a petitioner must show by a preponderance of the evidence that but for the vaccination, the petitioner would not have been injured, and that the vaccination was a substantial factor in bringing about the injury. Cedillo v. Sec’y of Health & Human

Servs. , 617 F.3d 1328, 1338 (Fed. Cir. 2010); Shyface v. Sec’y of Health & Human Servs. , 165 F.3d 1344, 1352 (Fed. Cir. 1999). Proof of actual causation must be supported by a sound and reliable “medical or scientific explanation that pe rtains specifically to the petitioner’s case,

10although the explanation need only be ‘legally probable, not medically or scientifically certain.’” Moberly v. Sec’y of Health & Human Servs. , 592 F.3d 1315, 1322 (Fed. Cir. 2010) (quoting Knudsen v. Sec’y of Health & Human Servs. , 35 F.3d 543, 548

- 49 (Fed. Cir. 1994)); see also Grant v. Sec’y of Health & Human Servs. , 956 F.2d 1144, 1148 (Fed. Cir. 1992) (medical theory must support actual cause). “[A] petitioner must demonstrate the reliability of any scienti fic or other expert evidence put forth to carry this burden . . . . Expert testimony, in particular, must have some objective scientific basis in order to be credited by the Special Master.” Jarvis v. Sec’y of Health & Human Servs. , 99 Fed. Cl. 47, 54

- 55 (2011) (citing Moberly , 592 F.3d at 1322; Cedillo , 617 F.3d at 1339; Terran v. Sec’y of Health & Human Servs. , 195 F.3d 1302, 1316 (Fed. Cir. 1999)).

Causation is determined on a case

- by

- case basis, with “no hard and fast per se scientific

or medical ru les.” Knudsen , 35 F.3d at 548. A petitioner may use circumstantial evidence to prove the case, and “close calls” regarding causation must be resolved in favor of the petitioner.

Althen v. Sec’y of Health & Human Servs.

, 418 F.3d 1274, 1280 (Fed. Cir. 20 05).

To receive compensation under the Program, petitioners must prove either: (1) that C.D.J. suffered a “Table Injury”

— i.e., an injury listed on the Vaccine Injury Table

— c orresponding to a

vaccine that he received, or (2) that C.D.J. suffered an injury that was actually caused by the vaccine (or vaccines) he received

. See §§ 300aa

- 13(a)(1)(A) and 11(c)(1); Capizzano v. Sec’y

of Health & Human Servs.

, 440 F.3d 1317, 1319

- 20 (Fed. Cir. 2006)

. Petitioners must show that

a vaccine was “not only a but

- for cause of the injury but also a substantial factor in bringing about the injury.” Moberly

, 592 F.3d at 1321 (quoting Shyface , 165 F.3d at 1352

- 53)

.

Because petitioners do not allege that C.D.J. suffered a Table injury, they must prove that

a vaccine C.D.J. receive d caused his injury. To do so, they must establish, by preponderant evidence: (1) a medical theory causally connecting a vaccine and C.D.J. ’s injury (“ Althen Prong One”) ; (2) a logical sequence of cause and effect showing that a vaccine was the reason for his injury (“ Althen Prong Two”) ; and (3) a showing of a proximate temporal relationship between a vaccinee and his injury (“ Althen Prong Three”)

. Althen , 418 F.3d at 1278; § 300aa

– 13(a)(1) (requiring proof by a p reponderance of the evidence ).

A. Althen Prong One

P etitioner s failed to submit any expert opinion addressing a theory of how the

vaccination s at issue could cause the alleged injuries in a patient with C.D.J. ’s established genetic mutations ; that is, mutations in the PIGT gene

. Th ese genetic mutation s have been

identified in the medical literature as a cause of congenital disorders of glycosylation with the

feat ure of intellectual disability. Pet’rs’ Ex. 46 at 6 . The PIGT gene functions to make a specific protein that helps other protein s attach to a sugar

- fat struct ure called a glycolipid (“ GPI ” ). Id. at

4. GP I is found in all cells of the body and is “ essential for life.” Id. at 4. A study of four other patients with the same genetic mutation revealed that th is mutation was the cause of a “novel autosomal recessive intellectual disability syndrome.” Id. at 1

. P atients with PIGT mutations

have hypotonia, mild microcephaly, impaired motor and cognitive development, severe motor and intellectual disability, seizures, i mpaired vision, skeletal abnormalities, cardiac abnormalities, mild dysmorphic facial features, and global cerebral atrophy. Id. at 5

- 7

. The

authors of the study conclude d that that there is “strong evidence that a syndrome of intellectual

11disability, hypotonia, seizures , and skeletal and ophthalmologic findings seen in the patients of this study is caused by mutations in PIGT

. ” Id

. at 7.

Petitioner s ’ expert

, Dr. Burris, opined that C.D.J. has a metabolic disorder that produce d a chronic inflammatory state. Pet’rs’ Ex. 18 at 1. Dr. Burris stated that the risk of developing an autoimmune disease increases when vaccines are given to a “patient with a chronic inflammatory condition caused by a metabolic disorder ,” like C.D.J. ’s. Id. But Dr. Burris did not id entify any metabolic disorder (s) , nor did he set forth facts relevant to this case to support his opinion that a

metabolic disorder was at play here

. Likewise, Dr. Burris did not cite any facts or evidence from

the medical records to show that C.D.J. has a chronic inflammatory condition.

Dr. Burris identifie d four theories of autoimmunity: “molecular mimicry, bystander activation, persistent viral infections

, and fertile field.” Id. Generally, Dr. Burris believes that there are two causal pathways o f autoimmune epilepsy and encephalopathy

– one is “that the body produces auto

- antibodies for specific proteins necessary for proper neurologically

function.” Id

. at 2 . The second is that an “increased number of antibodies can trigger seizures and enceph alopathy.” Id. Dr. Burris has not explained how or whether these theories might apply to patients with genetic mutations

.

Even if the undersigned were to assume that D r. Burris ’ theories of causation satisfied

Althen ’s Prong One, Dr. Burris’ reports a re deficient as to Prongs Two and T hree of Althen , as discussed below.

B. Althen Prong T wo

Althen Prong Two requires petitioners to show by a preponderance of the evidence that

the vaccination s caused C.D.J. ’s injuries consistent with the medical theory or theories proposed by Dr. Burris. Because Dr. Burris did not address C.D.J. ’s genetic disorder or point to factual support from C.D.J. ’s medical records to support his opinions , petitioners h ave failed to meet

their burden.

Dr. Burris opined that C.D.J

. had a metabolic disorder which produced a chronic inflammatory state. Id. at 1. Dr. Burris stated that the risk of developing an autoimmune disease increases when vaccines are given to a “patient with a chronic inflammatory condition caused by

a metabo lic disorder ,” like C.D.J. ’s. Id. Dr. Burris did not , however, refer to fact s from C.D.J. ’s

medical records or provide a ny other basis to support his opinion that C.D.J. had a metabolic

disorder or a chronic inflammatory condition. Therefore, his opinio ns are without foundation. “An expert opinion is no better than the soundness of the reasons supporting it.” Perreira v. Sec’y of H ealth and H uman S ervs. , 33 F.3d 1375, 1377 fn. 6 (Fed. Cir. 1994).

Moreover, although Dr. Burris identified four mechanis ms of autoimmunity, he failed to
articulate how these theo ries apply to a patient with C.D.J. ’s genetic mutations

. Dr. Burris’ report does not discuss any logical sequence of cause and effect showing that C.D.J. ’s

vaccination s were the reason for his inju ries

.

12Whether or not C.D.J. is presumed to have a genetic mutation, Dr. Burris’ opinions fail

Althen Prong Two because the y lack factual support or other foundation. Thus, petitioners have failed to provide preponderant evidence of actual causation u nder Althen Prong Two.

C. Althen Prong Three

Petitioners also fail ed to prove Althen Prong Three because Dr. Burris’ reports are
deficient on this issue. Dr. Burris does not address the issue of a proximate temporal relationship

betw een the vaccinations a nd injury other than to make a conclusory statement that C.D.J. had acute encephalopathy five days after the administration of the vaccines. Dr. Burris fails to cite any medical facts or evidence to support his conclusion that there existed a proximate te mporal relationship between C.D.J. ’s vaccine s and his alleged encephalopathy . As such, petitioners have failed to provide preponderant evidence of a proximal temporal relationship between the

vaccine s and any alleged injury

.

VI. Conclusion

For the reaso ns discussed above, the undersigned finds that petitioners have not established entitlement to compensation and their petition must be dismissed. Therefore, this

case is dismissed for failure to make a prima facie case . The Clerk shall enter judgment

acc ordingly. 22

IT IS SO ORDERED.

s/ Nora Beth Dorsey Nora Beth Dorsey Special Master

22 Pursuant to Vaccine Rule 11(a), entry of judgment is expedited by the parties’ joint filing of notice renouncing the right to seek review.

13