But what you can’t see when you first look at Eden is that she’s fighting an extremely rare disease, but there is a glimpse when she speaks.
“She was a perfect happy little girl, walking,” said Limor Gallo, her mother.
Limor and Dan Gallo say Eden hit all her early milestones, talking, walking, then at 14 months, “we were getting ready to go to a Mommy and Me class with her and she stood up in her crib was yelling my name and just started vomiting,” Limor said.
Pediatricians couldn’t figure out what was wrong. When Eden stopped walking, a family friend who is a doctor asked the Gallos to bring her into his Ventura County emergency room.
“It almost seemed like she was having seizures, something was going on and her eyes started rolling back in head,” Limor said.
Eden was put into an ambulance and taken to Children’s Hospital Los Angeles.
“She was so sick she couldn’t keep food down, her eyes were rolling, they couldn’t even stabilize her for a long time, and we didn’t know if she was going to survive,” Limor said.
Pediatric neurologist Wendy Mitchell immediately noticed Eden’s eye movements.
“They move up, down, sideways and diagonally in very fast, rapid burst,” Mitchell said.
Mitchell diagnosed her with opsoclonus myoclonus syndrome, or OMS. As one of the leading experts in the country, she says it often goes misdignosed.
“It’s not the parents that miss this. Frankly, it’s the fact that most pediatricians have never seen it and most ERs have never seen it,” Mitchell said. “And they miss eye-movement findings. If they see eye movements like that, they need to hold up big red flag to the doctor holding the child and say ‘Is this OMS?’ ”
OMS is an autoimmune disorder of unknown cause that attacks the central nervous system. Children usually show symptoms between 12 months and four years. It is characterized by rapid eye movements, speech impairment, a trembling gait and sleep disturbances. It’s so rare that only about 200 children are diagnosed each year in the United States. It’s not fatal but left untreated can lead to cognitive impairment.
“These kids when they’re acutely ill are — you’d think they are possessed. They’re so irritable,” Mitchell said.
“For the first year when really sick, all she wanted to do was be held. She couldn’t get comfortable. She just wanted somebody to walk around and hold her,” Limor said.
“That was the hardest thing for us I think in the beginning — that we couldn’t help her,” Dan said.
Now, 4 years into it, Limor gives Eden a steroid shot every other day and a nurse helps give her a daylong immunoglobulin transfusion.
Right now, Eden has her 10-hour treatment every four weeks, but she is still able to stay home and do things like play with her brother, Elijah.
http://losangeles.cbslocal.com/2015/09/11/family-helps-young-daughter-manage-rare-neurological-disorder/
Mitchell WG, Wooten AA, O'Neil SH, Rodriguez JG, Cruz RE, Wittern R. Effect of
ReplyDeleteIncreased Immunosuppression on Developmental Outcome of Opsoclonus Myoclonus Syndrome (OMS). J Child Neurol. 2015 Jul;30(8):976-82.
Abstract
Opsoclonus myoclonus syndrome (OMS) produces long-term cognitive, behavioral, and motor deficits. Objective was to see if more aggressive treatment improved outcome. Assessment included opsoclonus myoclonus syndrome rating, developmental/cognitive and motor assessment, and adaptive behavior. Fourteen subjects completed testing. Nine had neuroblastoma. Onset was at 10 to 35 months; onset to diagnosis: 2 days to 14 months, and onset to first treatment: 5 days to 15 months. Initial treatment was corticotropin (12), oral steroids (3), plus intravenous immunoglobulin in all. Ten received rituximab, 5 cyclophosphamide. Age at testing ranged from 2.5 to 10.3 years. Adaptive Behavior Score (11 subjects), mean 93.5; estimated Intelligence Quotient/Developmental Quotient mean 93.5; Motor: mean 92.8. Residual opsoclonus myoclonus syndrome symptoms at the time of the evaluation were generally minor; opsoclonus myoclonus syndrome scores ranged from 0 to 6. Comparison to previously reported opsoclonus myoclonus syndrome subjects showed improved outcomes: Adaptive behavior, cognitive and motor scores were significantly higher (P < .001) in new subjects. Outcomes have improved with more aggressive immunosuppression, with most opsoclonus myoclonus syndrome survivors now functioning at or near normal.
Hero B, Schleiermacher G. Update on pediatric opsoclonus myoclonus syndrome.
ReplyDeleteNeuropediatrics. 2013 Dec;44(6):324-9.
Abstract
Opsoclonus myoclonus syndrome (dancing eye syndrome) is a rare paraneoplastic syndrome characterized by opsoclonus, myoclonus, and ataxia, usually accompanied by behavioral abnormalities. In adults, opsoclonus myoclonus syndrome has been reported in association with different types of cancer; whereas in children, the syndrome may be associated with neuroblastic tumors. Although a direct proof is lacking, the syndrome is assumed to be of autoimmune origin. The treatment is corticosteroid based with the addition of other immunosuppressive or immunomodulating drugs if intensification seems necessary. Because of the rarity of the disease, international collaborations as well on research as on therapeutic strategies are urgently needed. A European consortium just started a trial for this rare condition.
Player B, Harmelink M, Bordini B, Weisgerber M, Girolami M, Croix M. Pediatric
ReplyDeleteOpsoclonus-Myoclonus-Ataxia Syndrome Associated With Anti-N-methyl-D-aspartate Receptor Encephalitis. Pediatr Neurol. 2015 Nov;53(5):456-8.
Abstract
BACKGROUND:
The full clinical spectrum of anti-N-methyl-D-aspartate receptor encephalitis is unknown in the pediatric population.
PATIENT:
We describe a previously healthy 4-year-old girl presenting with opsoclonus-myoclonus together with ataxia who had NR1-specific, anti-N-methyl-D-aspartate receptor antibodies in the cerebral spinal fluid.
CONCLUSION:
The presence of NR1-specific, anti-N-methyl-D-aspartate receptor antibodies in the setting of opsoclonus-myoclonus and ataxia syndrome may represent an expansion of the clinical presentations of anti-N-methyl-D-aspartate receptor encephalitis.