Rafael, our Rafa, was born in Brazil on July 18Th, 2013 after a normal, very quiet and also very expected pregnancy. At his birth, Rafa had all the characteristics of a very healthy baby in all aspects.
His development was normal until 8 months of life, for us, the parents, but for Rafa’s grandparents (Celma’s grandma and Natalia’s grandma)... the Rafa’smotor development was different than normal since the difficulty he had to sit, to crawl and stay steady with his legs. For us, the parents just thought he was a little lazier than other children.
Grandmothers talked to us about this situation and convinced us to consult a child neurologist. The neurologist examined Rafa clinically and diagnosed us as lazy(I and my wife). The orientation was encouraging him with play, reduce exposure to television, no lap and intensify with physical therapy until his development get normal.
West syndrome is a rare childhood epilepsy and it can be split in 2 types: Symptomatic (which has unknown cause, e.g. a brain tumor) and idiopathic (there is no known cause), in other words, we didn’t know how Rafa had developed the syndrome.
Why it happened? This question had no answer... according one of the best neurologists of the country (Brazil), there are various possible causes of this syndrome, for example, childhood vaccine reactions. However, the discovery of the cause would not change anything in the Rafa’s treatment, so it would not be worth investing in more expensive and detailed examinations.
For this reason, we have started a campaign in Brazil on this rare and devastating disease associated with genetic mutation in SCN8A gene in order to help the affected families and raise funds to support in research seeking treatments, maybe cure, Rafa and his friends.
Stimuli really began to help in the Rafa’s development, but at 10 months old we have seen the first onset seizure through infantile spasms, so from there everything changed.
We got desperate, we consulted internet so we immediately run to the emergency room, he did electroencephalogram (EEG), magnetic resonance so were turn to the neurologist to be informed he was diagnosed with idiopathic West syndrome after two days since onset seizures.
Currently Rafa has been presenting seizures again, unfortunately, and his development has all effects described above, as a disorder in the motor part moderately. Nowadays his beautiful smile is something to hard to see.
Dr. Vinicius proposed an intensive treatment in the ICU with intravenous medication that controlled seizures, provided improvement in motor and cognitive framework..... And Rafa smiled again after 6 months. And most important, Dr Vinicius encouraged us to do the exome analysis test in Rafa's DNA to try to figure out the cause of this devastating situation.
In April 2015 obtained the exome results, Rafa has a genetic mutation in the gene SCN8A characterized as event "de novo", so it was not inherited from genetic material from the parents. This gene is responsible for the production of a crucial protein to control the neurons operation and muscular system. Changing in this gene causes devastating effects: intractable epilepsy refractory to medication, delayed neurological development and severe disorder in the motor part.
Mutation of this gene was discovered only in 2012 and has reached approximately 90 children diagnosed worldwide, but that is all information available that we have. There are no studies or researches about this treatment for healing or as little to treat their devastating effects.
Furthermore, this period Rafa’s development was badly impaired, in the motor part and in cognitive as well. December 2014 Rafa could not support the head and nor the trunk, not rolled on the ground, had no interest in toys, did not interact with us and didn’t smile… just slept all day.
In January 2015 Rafa was admitted suspected of hemorrhagic dengue and since his feverish state,his crises shot and were totally uncontrolled, he had approximately 1 crisis per minute awake and sleeping as well. Despite this worrying environment, the dengue was the most important and positive event for Rafa, because of that we met Dr. Vinicius Scaramuzzi, which changed the course of our family life and especially the Rafa’s life.
The medical advice was to control the seizures as quickly as possible in order to increase the Rafa’s chances to live a normal life. Rafa’s prognosis was very positive because we’ve early begun the treatment, soon after the convulsions start.
Despite starting the treatment with anticonvulsant drugs, the convulsions increased fast, so in less than 1 month Rafa had over 200 seizures per day. Over the course of six months, from June 2014 to December 2014, were several attempts with medications and dosages in order to control seizures and normalize electrical discharges in small Rafa’s brain, but we realized his epilepsy was difficult to control and refractory to drug treatment (in other words, the drugs didn’t work).