Update 04/12/2018: Little Ibai died yesterday at the University Hospital of Donostia, after fighting for three months against Leigh's syndrome. Despite the fact that his parents had obtained 17,000 signatures to try to expedite the arrival of an experimental drug, Ibai did not resist any more, and his life has been extinguished only one month later than that of his twin brotherIbai, four, is struggling to survive after being diagnosed with Leigh syndrome, a rare, neurological and degenerative disease that three weeks ago he took the life of his twin brother, Ekain, after three months of hard battle.
The child, who remains admitted to the University Hospital of Donostia, at the moment does not respond to medical treatment so that the parents desperately request that be treated as soon as possible with experimental drugs.
The disease has already taken one of his children
Leigh syndrome first affected Ekain, and it did aggressive and fulminating way. Symptoms began in late December, with frequent dizziness that quickly worsened to such an extent that Ekain had to be admitted to the ICU.
As his father explains, one day he lost his speech and mobility and finally died on March 15, after three months of agonizing battle against a disease that gave him no respite.
Unfortunately, his twin brother, Ibai, has developed the same disease and now he struggles to survive in the University Hospital of Donostia. At the moment, the treatment he is receiving does not work, so parents desperately ask to exhaust all possible routes and be treated with experimental drugs.
"They tell us about experimental drugs that are in clinical trials. They are really test drugs that are not authorized, but they could be used for compassionate use and that is why we have requested it. We are looking for the best for our child and we call on researchers, pharmaceuticals and hospitals that are developing clinical trials "- says his father, Miguel.
This is the video that his parents have made sharing the story of their twins, and asking for help to save the life of their little Ibai.
A rare and aggressive disease
As we can read in Orphanet, the information portal for rare diseases, Leigh syndrome or subacute necrotizing encephalomelopathy, is a progressive neurological disease associated with lesions of the brain stem and basal ganglia.
its prevalence is 1 for every 36,000 births, and the symptoms usually appear before 12 months of age, although in rare cases it can also occur in adolescence or even adulthood.
The initial signs are the lack of acquisition of the stages of motor development, hypotonia with loss of head control, recurrent vomiting and movement disorders. In general, the disease usually progresses quickly, and also causes respiratory disorders, ophthalmoplegia and peripheral neuropathy.
The causes of this disease are diverse and are due to different types of mutations of the genes involved in the energy production process in mitochondria.
In cases where Leigh syndrome is inherited from the mother, as a mutation found in the mitochondrial DNA, all children of the affected woman will inherit the mutation and will be affected by the disease. If the father is affected, the children will not inherit the mutation or be affected by the disease.
Currently, the prognosis of Leigh syndrome is poor, with a life expectancy reduced to only a few years for most patients.
That is why we join the appeal of these parents, so that soon an effective treatment can be found to help alleviate the symptoms of this terrible disease and improve the life expectancy of patients suffering from it.
