Connecting Rare Disease Patients Globally
Dravet Syndrome is one of the most catastrophic epilepsies and is a rare neurological condition causing severe, difficult to control seizures alongside developmental delay.
Living in a state of constant alertness
Written by rdc-team, published 8 days ago.
This is the story of Mikel, a six-year-old boy who has Dravet syndrome, a rare condition that causes him to have constant convulsions that can be fatal.His parents cannot leave him for a second, and they take turns every night to cuddle him in bed, praying to God that they do not fall asleep for a moment. "Living in a state of constant alertness" is something Mikel and Rosa have got used to, as they wage a constant battle against this condition, which affects between 200 and 400 children in Spain, of whom less than 100 have been diagnosed.
These figures suggest that neither pharmaceutical companies nor researchers are going to launch a search for a treatment for this syndrome, which has similar symptoms to epilepsy and causes significant cognitive decline, because it is not economically profitable. Rosa told [the Spanish international news agency] Efe that her baby had his first seizures when he was just six months old, but she did not know that they would live constantly under the threat of a "killer" called Dravet until he was three years old. Since then, her dream has been to "live without fear one day", in the face of a condition that has a mortality rate of 20 per cent.
His father recalls the neurologist's harsh words when he delivered his diagnosis: "Up until now, you have been dealing with a kitten; for the rest of your lives you will have to deal with a dragon." Dravet syndrome is the result of a mutation of the gene that regulates the production of sodium, which prevents the communication of information between different neurones. One of its most feared symptoms are the seizures, which can vary from six a day to more than seventy, while some can last up to sixty minutes.
At the beginning, doctors confuse these seizures with febrile convulsions because they are usually accompanied by a fever; sometimes they think it is epilepsy, but these children are resistant to the medication used to treat this condition. Their episodes get worse, they start to do "strange things", tics appear, they close their eyes very quickly or keep them open for long periods of time, and so begins the "long, tortuous search for sanity while doctors regard you as a hysterical mother", lamented Rosa. As it is a degenerative condition, the illness will lead to physical deterioration – some [children] can neither walk nor talk - and irreversible cognitive damage, which is particularly serious because their brains are in full development.
"The battle against time is the most important things," said Mikel. The seizures can happen "at any time, with no apparent cause and no warning", although a change in air temperature, a bath with water that is not at 37 degrees or a common cold can lead to the little one being admitted into intensive care, fighting for his life. Sometimes "isolation" is the only protection against other "playmates'" viruses, or doing things back to front - for example, going to the beach at 8pm, wearing a wetsuit, of course.
The hardest thing is the nights – "a Nazi torture", according to his parents, because Mikel becomes silently agitated, and they have to constantly cuddle him without falling asleep themselves. So they have no choice but to take turns to sleep every other night. Rosa is ambassador for the Dravet Syndrome Foundation (www.dravetfoundation.eu) in northern Spain; she devotes herself to fundraising and has already managed to set up 12 research projects to find a cure or improved treatment.
The cheapest research costs €60,000 a year. The Foundation also offers free genetic tests, which can cost as much as €1,500 in the private health sector for those wishing to avoid the long public health waiting list. For Mikel's parents, every minute counts in the fight against Dravet syndrome, in which some parallels have been found with Alzheimer's disease, which could, therefore, help throw some light on treatment options for other degenerative conditions.
[Artículo publicado originalmente en la página EfeSalud | http://bit.ly/RbMOSO]