FIRES, a rare disease - Isa's Story

Isa was a completely healthy baby girl, with a normal development till she was 10 months old, when she had fever for the first time. It was a high fever, almost 40º Celsius. she went to hospital Emergency unit to control the fever. 2 days after, she no longer had fever, but was acting strangely. She was very sleepy, with no appetite and no mood for playing, which she liked so much. Due to that behaviour we took her to the hospital again and she had the first seizure at the emergency unit on 09/05/2017 her status got even worse and she was transferred to ICU (Intensive Care Unit) where she stayed till 01/06/2017, where she was in an acute drug-resistant epileptic status for 27 days. She became drug-resistant to multiple therapeutic measures: hypnotics, benzodiazepines, anesthetics, anti-epileptics, hypotermia and ketogenic Diet.

Personal background:
Metabolic diseases tests made on 06/03/2016 without changes;
Otoacoustic emissions made on 01/06/16, unchanged;
Updated Vaccine schedule (2 doses of anti-pneumococcal vaccine). Without anti-meningococcal B vaccine.
Under the surveillance of a local doctor (local hospital) and private pediatrician doctor, always with adequate psychomotor development, normal evolution of weight Percentile P85-97, height P50- 85, and of cephalic perimeter P85 since birth.

Family Background:
no relevant information;
Mother - one and only seizure episode at the age of 17;
Pregnancy - An intense Flu at 5 months of gestation.
Healthy brother, at the time of her sister acute phase was 4 years old.

Evolution at the hospital ward:
Neurologic:
She kept an epileptic encephalopathy state (FIRES), with a super status, with a progressive improvement of alert periods and decreased drowsiness in which we differentiate spasms, tonic seizures, versive seizures, and severe periods of irritability. Kept phenobarbital, with the frequent need of BZD administration, introduced Zonisamide on D21 (day 21 of admission) and clobazam on D23 with good response. For disrupting the sleep-wake cycle, she started taking melatonin with a good response. After MFR (Physical and rehabilitation medicine) assessment, she started physiotherapy, occupational Therapy (OT) and (SLP) speech-language Pathology (for swallowing and feeding difficulties). At the time of hospital ward discharge, she was progressively more awake, despite some episodes of irritability and movements kind of spasms /shaking of arms and hypotonic legs, at the end with no need to take SOS medication (Diazepam).

Kept ketogenic diet by a nasogastric tube (NG) during hospitalization, according to the nutrition table, with ketone levels difficult to control (maximum 2). She now has a Gastric tube.
At the time of hospital discharge, she kept a ketogenic diet at a ratio of 4: 1, with good oral tolerance without vomiting or other complications associated. She now has a ratio of 1:1.

She started the 12 Months vaccine scheme, with the administration of VASPR on D40, without any problems associated till the day of hospital discharge.

Other diagnostic Exams made:
Etiologic study:

VVZ of PCR blood (11/04): negative;
Infectious serologies (12/04): varicella zoster, CMV, toxoplasmose, enterovirus, Cocxackíe, EBV, mycoplasma, echovirus, ricketsia, Q fever, Borrellia, Echo, entero, coxsackie and adenovirus negative
TSH/T4 /T3 and atcs anti-TG / TGO (12/04) without change;
Immunoglobulins (A,G,M,E,A) (12/04): normal;
Ac organic in urine (13/04/17): no changes;
Amino acids in LCR (13/04/17): no changes;
Self-antibodies eventually related to autoimmune encephalopathies/ synaptopathies serology (CA SPR2, LGl1, GAD65, GABAB, AMPA1, AMPA2) and no LCR (NMDAR) (17/04): negative;
CDT- carbohydrate-deficient transferrin (19/04): normal.

Currently (already made):
Serologic testing of Carnitine (06/07/2017);
NGS for Epileptic Encephalopathies (CGC (made in Porto - Portugal) - 67 genes, including PCDH19) 24/04: it was found a variant c2215A» G in heterozygosity of the SCN9A gene of not defined diagnostic significance in the study done by the genetic lab. She made also the Genome and Exome testing other variants were found but with no relevance for her status.

EEGs (07/06), (16/6), and (23/06) in 2017: slow waves, not well structured, with registry of AP multifocal, registry of spasms and versive seizures, with improved base pattern and lower registration of seizures.

Now, 5 years after the acute phase, she has improved her motor capacities. She is now able to sit down (with help) and hold her head by herself. She swallows very well without any aspirations for the lungs and she is much more aware of what surrounds her.

Besides the conventional medications, we are using CBD (cannabidiol) with a great improvement in the reduction of seizures and spasms, with a great control of her sleep and daily time.

She was last year integrated into Kindergarten and she is going the next year to a unit at her brother's primary school.

These years after losing my little baby girl and receiving a new girl were not easy... definitely not! But we need to be strong for them or no one else will do that for us! I use to say that this FIRES syndrome burned me and all my life, but it also gave me the "FIRE" and strength to keep on fighting for a better quality of living and to reduce her pain and suffering! If you know any other case of FIRES please ask them to register in the diseasemaps.org and in https://www.norseinstitute.org/norse-registry-2#

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