Wednesday, May 25, 2016


A little boy diagnosed with a rare epilepsy syndrome now has doctors around the world — and supportive Facebook users — keeping up with his condition.

In March, Maryland 5-year-old Cameron Longley was admitted to the hospital after having seizures that seemed to be prompted by a fever. At first, doctors couldn’t determine the boy’s diagnosis. As physicians tried different tests, his parents started a Facebook page for him and began sharing posts with the hashtag #AnswersForCameron. The page includes photos of the boy in the hospital as well as updates on his symptoms, which have included a collapsed lung, a rash, a swollen tongue and kidney issues.

He is now at Children’s National Medical Center in Washington, D.C., where Dr. Elizabeth Wells is the medical director of inpatient neurology. Wells told The Huffington Post that Cameron didn’t respond to the initial seizure treatment he received from doctors, which later helped clue her in on a specific diagnosis. After running several tests, the team at Children’s National Medical Center has determined that Cameron meets the criteria for FIRES, or febrile infection-related epilepsy syndrome. Part of its diagnosis includes not responding to traditional treatment for seizures.

According to Wells, less than 100 cases of FIRES have been reported worldwide. Because of its rarity, the medical center has shared information about Cameron’s condition with doctors around the world. His parents are using the Facebook page they set up to look for more answers and are glad the hospital is asking for help as well.

“I feel like this hospital is willing to reach out to other avenues and not just try to keep it in house and solve the problem on their own,” Zarinah Cuffee, Cameron’s mom, said.

The hospital also implements family-centered rounds that focus on including families as much as possible in patients’ cases. These rounds can include patients, their families, physicians, nutritionists, therapists and social workers. Wells explained that Children’s National isn’t the only hospital to incorporate family-centered rounds, but the way they provide them for patients with brain diseases and complex medical diseases is what makes the hospital stand out. Referring to the rounds, Shaun Longley, Cameron’s dad, said “it’s nice to not feel out of the loop.”

Other people don’t want to feel out of the loop either when it comes to Cameron. As of Thursday more than 1,700 people are following the Facebook page set up to share updates about his health and progress now that he’s been responding to treatment. Shaun told HuffPost they’re preparing for his son to transfer to a rehabilitation center next week, and according to a recent Facebook post, Cameron and his family are “taking it one day at a time.”
Courtesy of Doximity



  1. In mid-March, Cameron Longley went from boisterous to incapacitated after a low-grade fever led to uncontrollable brain seizures.

    "His toes turned in and his hand curled up, and at that point I was like, this is not right," says his father, Shaun Longley.

    Longley rushed his son from their home in Hyattsville, Maryland to renowned Children's National Medical Center in Washington, D.C. Pediatric neurologist Dr. Elizabeth Wells showed WJLA one of Cameron's MRIs.

    "You can see these red areas are the areas where he is having seizures," says Wells.

    Wells says traditional treatments didn't work. Cameron developed conditions that could have killed him. He was moved to the ICU in critical condition.

    "Your biggest fear as a parent looks like it is coming true right in front of your eyes. You are looking at your child, who is always full of life, and he is lying there helpless," says Cameron's mother, Zarinah Cuffee.

    Doctors now believe Cameron has one of the rarest neurological conditions in the world. It's called FIRES, an epilepsy syndrome in which the immune system attacks healthy brain tissue.

    "So, less than 100 reports worldwide so far of this disease," says Wells.

    Cameron has been hospitalized now for some 50 straight days.

    Several days ago, doctors tried a new therapy that has had positive results. Cameron is more alert.

    He's smiling and isn't having as many seizures.

    Wells says, "So, we know that our therapies are helping, but we don't know if it's enough for a cure."

    Cameron's parents just want their son back, to hear a voice they haven't heard in more than seven weeks.

    "I want him back. I want him home," says Cuffee.

    Wells tells WJLA Cameron could recover, best case scenario, in several months.

    But it could take more than a year.

    There could also be a setback at any time.

  2. The family of five-year-old Cameron Longley reached out hoping somebody out there will know how to treat their son's illness.

    Cameron Longley is suffering from crippling seizures and doctors don't know why. He's been at the Children's National Hospital in Washington, D.C. for 41 days.

    Cameron's family says he's a fighter, so they're going to fight for him.

    Photos and videos of young Cameron capture the smile and happiness of the boy, items the family treasures.

    "He's willing to try anything," says Cameron's mother, Zarinah Cuffee. "He has no fear."

    Speaking with NBC12 via Skype while at the hospital, they say the mysterious started as a fever and, in just a few days, escalated to crippling seizures.

    "His body just completely locked up, flat like a board," says Cameron's father Shaun Longley. "He just wasn't saying everything and his toes were turned into each other."

    Cameron's parents say doctors don't know what's causing the debilitating seizures.

    "They've reached out to the NIH (National Institutes of Health), they've reached out some of their colleagues," says Cuffee. "But whatever Cameron has, it's rare."

    The young boy was placed in an induced coma for two weeks and has been on 16 different medications but, the seizures just won't stop.

    After multiple MRIs, CAT scans, and genetic tests, the results have all come back negative.

    Cameron spent his fifth birthday in a hospital, something the boy's mother said broke her heart.

    "It hurts, it hurts," said Longley. "We were planning a pool party for him, he was excited."

    Now, the family is looking for answers that can help their little boy.

    "I'm sure there are similar cases out there," says Cameron's father. "So once the doctors say, 'Hey we don't know.' Ok, so we're going to find out then."

    Cameron's parents say he did have a standard hernia surgery two weeks before getting a fever but were told by doctors that the surgery was normal.

  3. Kramer U, Chi CS, Lin KL, Specchio N, Sahin M, Olson H, Nabbout R, Kluger G, Lin JJ, van Baalen A. Febrile infection-related epilepsy syndrome (FIRES): pathogenesis, treatment, and outcome: a multicenter study on 77 children. Epilepsia. 2011 Nov;52(11):1956-65.

    To explore the correlations between treatment modalities and selected disease parameters with outcome in febrile infection-related epilepsy syndrome (FIRES), a catastrophic epileptic encephalopathy with a yet undefined etiology.
    We conducted a retrospective multicenter study on children who had been included in eight studies published between November 2001 and July 2010. Additional data were retrieved from six of the eight participating centers.
    The 77 enrolled patients presented with prolonged refractory status epilepticus. A preceding febrile infection had been reported in 96% of them. Treatment modalities included antiepileptic drugs (a median of six), intravenous immunoglobulin (IVIG, 30 patients), steroids (29 patients), burst-suppression coma (BSC, 46 patients), and other less conventional agents. There was no evidence of efficacy for those treatment modalities except for IVIG (two patients), a ketogenic diet (one patient), and a prolonged cycle of barbiturate anesthesia coma (one patient). Nine patients (11.7%) died during the acute phase of FIRES. Only 12 of the 68 surviving patients (18%) retained normal cognitive level, but most of them had learning disabilities. Sixty-three patients (93%) had refractory epilepsy at follow-up. Cognitive levels at follow-up were significantly associated with duration of BSC (p = 0.005) and younger age at FIRES onset (p = 0.02).
    The outcome of FIRES is poor. No therapeutic agent was efficacious in shortening the acute phase, with the possible exception of a ketogenic diet. Treatment by inducing a prolonged BSC was associated with a worse cognitive outcome.

  4. Nabbout R. FIRES and IHHE: Delineation of the syndromes. Epilepsia. 2013 Sep;54 Suppl 6:54-6.

    Idiopathic hemiconvulsion hemiplegia and epilepsy syndrome (IHHE) and febrile infection-related epilepsy syndrome (FIRES) are rare epileptic syndromes characterized by the occurrence of status epilepticus in a previously healthy child during or closely after a febrile episode. In both syndromes, there is no evidence of central nervous system infection (encephalitis) and the etiology remains unclear. Treatment is disappointing, particularly in FIRES, except for a response to ketogenic diet (KD) in half of patients. In IHHS, children develop hemispheric brain atrophy with contralateral hemiplegia, epilepsy, and a variable degree of cognitive deficit. Patients with FIRES develop refractory epilepsy with severe cognitive deficit affecting the temporal and frontal lobe functions. The role of inflammation is hypothesized with a vicious circle involving inflammation and seizure activity facilitated by brain maturation putting them under the concept of "acute encephalopathy with inflammation-mediated status epilepticus."

  5. Singh RK, Joshi SM, Potter DM, Leber SM, Carlson MD, Shellhaas RA. Cognitive outcomes in febrile infection-related epilepsy syndrome treated with the ketogenic diet. Pediatrics. 2014 Nov;134(5):e1431-5.

    Febrile infection-related epilepsy syndrome (FIRES) is a newly recognized epileptic encephalopathy in which previously healthy school-aged children present with prolonged treatment-resistant status epilepticus (SE). Survivors are typically left with pharmacoresistant epilepsy and severe cognitive impairment. Various treatment regimens have been reported, all with limited success. The ketogenic diet (KD) is an alternative treatment of epilepsy and may be an appropriate choice for children with refractory SE. We report 2 previously healthy children who presented with FIRES and were placed on the KD during the acute phase of their illness. Both children experienced resolution of SE and were maintained on the KD, along with other anticonvulsant medications, for several months. Both were able to return to school, with some academic accommodations. These cases highlight the potential value of the KD as a preferred treatment in FIRES, not only in the acute setting but also for long-term management. Early KD treatment might optimize both seizure control and cognitive outcome after FIRES.

  6. Pardo CA, Nabbout R, Galanopoulou AS. Mechanisms of epileptogenesis in pediatric epileptic syndromes: Rasmussen encephalitis, infantile spasms, and febrile infection-related epilepsy syndrome (FIRES). Neurotherapeutics. 2014 Apr;11(2):297-310.

    The mechanisms of epileptogenesis in pediatric epileptic syndromes are diverse, and may involve disturbances of neurodevelopmental trajectories, synaptic homeostasis, and cortical connectivity, which may occur during brain development, early infancy, or childhood. Although genetic or structural/metabolic factors are frequently associated with age-specific epileptic syndromes, such as infantile spasms and West syndrome, other syndromes may be determined by the effect of immunopathogenic mechanisms or energy-dependent processes in response to environmental challenges, such as infections or fever in normally-developed children during early or late childhood. Immune-mediated mechanisms have been suggested in selected pediatric epileptic syndromes in which acute and rapidly progressive encephalopathies preceded by fever and/or infections, such as febrile infection-related epilepsy syndrome, or in chronic progressive encephalopathies, such as Rasmussen encephalitis. A definite involvement of adaptive and innate immune mechanisms driven by cytotoxic CD8(+) T lymphocytes and neuroglial responses has been demonstrated in Rasmussen encephalitis, although the triggering factor of these responses remains unknown. Although the beneficial response to steroids and adrenocorticotropic hormone of infantile spasms, or preceding fever or infection in FIRES, may support a potential role of neuroinflammation as pathogenic factor, no definite demonstration of such involvement has been achieved, and genetic or metabolic factors are suspected. A major challenge for the future is discovering pathogenic mechanisms and etiological factors that facilitate the introduction of novel targets for drug intervention aimed at interfering with the disease mechanisms, therefore providing putative disease-modifying treatments in these pediatric epileptic syndromes.