Easton was diagnosed with a variant of unknown significance SCN2A. His particular variant is the only one to be documented in the world at this time. Additional finding of TBCD variant of unknown significance. TBCD disorder (also sometimes referred to as PEBAT), is a severe and often progressive genetic neurological condition. Most children lose all purposeful movement by age four, and the majority do not see their fifth birthday. The SCN2A gene is located on the long (q) arm of chromosome 2 at position 24.3. SCN2A encodes instructions to make a protein in the brain called a sodium channel which plays a key role in a cell’s ability to generate and transmit electrical signals. Pathogenic variants that affect the SCN2A sodium channel impair the flow of sodium ions in the brain. When there is a deletion or mutation of this gene it has been identified to cause autism, epilepsy, and other neurological issues such as movement disorders, dystonia, and dysautonomia. Easton’s sudden onset of tonic clonic seizures 6 weeks ago has left us hospitalized in Victoria BC for 4 weeks and transferred to BC Children’s. A type of seizure that involves a loss of consciousness and violent muscle contractions. His seizures range from 10-15 in a day and between 1 minute - 7 minutes on duration during his clusters. This type of seizure causes him to stop breathing which is dangerous and needs emergency medication. Easton’s team of Neurologists, Cardiologist, Metabolic, Speech Therapy, Physical Therapy etc all are needed to treat him throughout the process. Over 30 blood tests, multiple anesthesia MRIs, EEGs, CT scans, Spinal Tap, Genetic Testing etc this boy has been through so much. We are still trialing medications and hoping the right mixture will be figured out. He has failed 5 medications thus far. His smile, emotion and ability to walk are limited by the overwhelming amount of medication and underlying genetic diagnosis. Easton was a sweet healthy boy before this all began. Unfortunately this is a very rare genetic diagnosis with a later onset in Easton and there was no way to catch this earlier. Our world has changed dramatically in one day. We are hopeful for clinical trials but we also realize that Easton will need a significant amount of help going forward. His seizures appear at all hours of the day and night. McKenzie has been in the hospital watching him but eventually when we go home he will need 24/7 monitoring, speech therapy, physical therapy and constant doctor appointments throughout his life. Living in Canada, public services are a long wait and limited for what Easton needs especially in Victoria. If anyone has connections to any of the following or information please let us know. He needs weekly early intervention. If we are unable to acquire this in Victoria we will have to go to Vancouver or Seattle for treatment. Currently we have been unable to control Easton’s seizures. Which is why hospitalization continues. Uncontrolled tonic clonic seizures are dangerous. He needs emergency medication for when the seizures last over 3 minutes as he stops breathing. This can occur in the night or day which is very distressing. He is currently on 4 different medications and very sedated. Finding the right combination to control the seizures yet allow for development. Our Needs / Private Physical Therapy $1200 monthly Private Speech Therapy $2400 monthly Private Autism Testing $3900 6 month wait Pediatric Oxygen Monitor $500 Smart Bed / Monitor for Seizures $10,000 Night Nurse to watch Easton until or / if his seizures get controlled. If anyone knows of someone on the Island.
Artículos relacionados
