Donohue syndrome, the rarest condition among the rare
We all are conscious of how complicated is to be victim or the be a relative of a rare condition. Dozens of different diagnosis, endless walks thorugh doctors offices, hospitals….And once the disease is discovered, consultations with experts, astronomical medical expenses and scarce help from the public institutions.
Donohue syndrome is an extremely rare illness. It is a genetic disorder related with the insulin resistance. In daily life, kids that endure it, suffer a multitude of growth and development complications. The end comes inevitably soon.
As an autosomal recessive genetic disorder, the responsible mutation for the Donohue is found in the short arm of the 19 cromosome. It was identified in 1948 by Dr. W.L. Donohue. It was called disencronia at first, then Leprechaunism. As years progressed, the current name stuck as Leprechaunism was deemed, logically, disrespectful.
Maialen is a little girl, and the only one affected with this syndrome in Europe. She also is one the three in the world and of the 50 found since it was discovered. So unique is the case, that her family is moving heaven and earth to improve her living standard.
That’s why the founded the NGO Go Maialen, to sensitize the world about this unknown condition and remind it that the children’s suffering is not just about the common affections. Even with all those efforts, they’re not finding ways to help her. A new drug, Leptine, seems to give good results, but its use means nearly 200.000 Euro. Osakidetza (The Basque Health System) is doing everything they can, but it is a tough to solve the economic problem.
Maialen is conscious of her ailment, but she confronts with that unconditional illusion that children possess in spades:
“I love to read, paint and play, above all in the swings… ah! and run. Run is what I like the most. Doctors tell me, I’m very special and there’s only 3 kids like me. My parents also tell me I’m special, but they think there’s no one like me in all the world.
I guess that is what all doctors say…and all the parents”
From their web, their parents organise all kind of events and activities to help. As they state in their website:
“That’s why it is important to sell a simple t-shirt or to organise the biggest of charity events. Each raised euro keep us fighting for Maialen. To give here the best life we can. That is what she deserves, like any other child”.