As part of the Port Authority of Bilbao’s health promotion project, Portu Osasuntsua (Healthy Port), employees will take part in a solidarity trail on 1st, 2nd and 3rd of June to raise funds for the treatment of Maialen Aulestia, a seven-year old Bilbao girl, suffering from the rare Donohue syndrome disease. At present, she is the only child in Europe afflicted with the disease, and the second in the world.
The challenge has the support of a dozen companies and the trail will be approximately 100 kilometres long, split into three eight-hour stages, including stops, of some 35 kilometres a day.
The trial will start at the source of the River Nervion at Delika, and conclude at the mouth of the river in Santurtzi next to the entrance to the Port of Bilbao. On day 3, at the end of the route, the Port Authority will present Maialen’s family with a cheque for the amount of money raised.
Donations can be made on the official web page created by Maialen’s family- http://gomaialen.com/
The disease Maialen Aulestia suffers is what doctors call the Donahue syndrome or leprechaunism, and was diagnosed in the Biscay Cruces Hospital. It is an extremely rare and severe genetic disorder related to insulin resistance, which generates serious growth and development difficulties in children suffering from it. Maialen is intellectually normal with a very privileged brain, but her body does not function normally.
It is a genetic disorder transmitted by the parents. Both have one of their insulin genes mutated, which in itself, is neither serious nor problematic, but the combination of the two genes, brought about this condition in Maialen. There is no literature or medical-clinical data about this disorder since there are only three documented cases in the history of Spain: one in 1978, another in 2009, and Maialen’s case. It is the first such case treated by Osakidetza (the Basque Public Health Service), and in all Europe no other case has been diagnosed. In the history of medicine only 50 cases have been documented, and at the present time, only one other case is known in the world, in the United States.
Life expectancy for those suffering the disease is from 18 to 24 months, and it has no cure; neither are there any doctors researching the disease, for it is non-profitable, nor are there enough clinical cases.
However, in the United States, there is a medical team with 30 years of experience who have treated several cases of Donohue syndrome, and are attending the American child with the same condition. At the present time, this team is assessing the doctors at Cruces Hospital with Maialen’s treatment.
Last September, this team invited Maialen’s parents to the National Health Institute at Bethesda (Maryland) to carry out tests on the girl, and thus determine whether she could be a candidate for a clinical test with leptin, an artificial hormone indicated for lipodystrophy, and which is showing positive results with the American child, bringing him quality of life and prolonging his life expectancy.
This medicine costs 250,000 dollars (some 220,000 euros) a year, and it is being used in Maialen’s treatment.
In addition, among other things, she needs hours of stimulation and physiotherapy, a special diet, a dentist and other specialist doctors and the adaptation of her home.