We are all excited by the stories of children affected by rare diseases that they have a hard time getting out of their situation because they don't investigate about them, because there is no money to advance in a possible cure, because they are helpless and vulnerable children, who drag hard experiences in which no one would like to see us.
That is why it hurts to see that one of these situations is played by appealing to people's generosity if, in fact, a sick child is not going to be helped. And it is surprising that whoever does it is the affected family itself. It is what everything indicates that it has happened with the case of Nadia Nerea, a girl with trichothystrophy whose father has obtained solidarity economic assistance that supposedly would not be used for the cure of the little girl.
The truth of Nadia Nerea's case
The term "trichotiodistrophy" was coined by Vera Price in 1980 and derives from the Greek 'tricho': hair, 'thio': sulfur, 'dis': alteration, 'trophe': form. Nadia Nerea, 11, really suffers from this disease, which is characterized by a deficit of sulfur in tissues that derive from embryonic tissue that participates in the formation of the neural plate and the neural tube during pregnancy.
The main symptom of trichotiodystrophy is the fragility of the hair, along with some growth retardation and an intellectual deficit, nail abnormalities and photosensitivity.
Affected patients do not have the normal mechanisms to repair the DNA affected by ultraviolet light. The progressive accumulation of mutations in DNA would be what causes premature aging, although research has not yet determined the life expectancy of affected patients.
It is a rare disease collected by the Spanish Federation of Rare Diseases, which states that "The exact prevalence of TTD is unknown, but it seems to be quite rare." There are more than two hundred documented cases of trichotiodystrophy.
In recent years, much progress has been made in understanding the molecular basis of the disease, but there is no effective and safe treatment against trichotiodystrophy. Mortality rates are low.
Since 2008, Nadia Nerea's father, affected by trichothystrophy, has launched various solidarity campaigns to raise money for her daughter.
After five supposed previous operations (with their corresponding collection campaigns), in recent days Nadia's family has asked for money so that her daughter could be intervened in a novel "genetic operation through the brain". They collected more than 140,000 euros, according to El Mundo (a figure that would increase to 153,000 euros in a few days).
But the most recent publication of the Nadia Nerea Association's Facebook page indicates that money donated for this cause will be returned to whoever asks for it:
I want announcements that tomorrow the refund of the total contributions-donations made will be made early, asking the bank for the certificate of said returns.
They also convene for Wednesday a press conference with the means to give the necessary and necessary explanations, to which we will be attentive.
But why has the girl's family been forced to make that decision to return the money raised? Because of the implausibility of many points and the more than probable falsehoods that, in recent days, various media such as Malaprensa or Hypertextual have revealed about this case. An investigation has already been opened to find out if fundraising hides a scam.
The most likely lies of Nadia Nerea's case
The symptoms of trichotiodystrophy are not as severe as the father will present them. in his various interventions in the media and his campaigns to raise money that would help the girl to improve. As a result of these campaigns and generous donations, the father allegedly traveled to different countries in search of the best specialists to try to cure Nadia.
There is even talk of a trip to Afghanistan during the war to look for an expert in the disease that lived in a cave, of which there is not the slightest testimony and is one of the strangest points to doctors consulted by the case, even stating without ambiguity as one of them consulted by El País that is a lie. The father indicates that he cannot reveal the name of this mysterious specialist.
And that since 2009, when the girl's terminal status was announced. But her condition is not serious as different specialists say to Hypertext, it is not true that the girl is trapped in an 80-year-old body and the mortality rates of the disease are very low. No deaths are documented after the age of ten (except one case at 47, with another disease involved).
Nadia's father points out that it is possible to find out the percentage of aging cells in people with trichothystrophy, however experts say that this data is not possible to determine at present. Therefore, the data provided by the father would be aimed at generating alarm and compassion, since the girl is not on the verge of death.
In addition, to acquire greater veracity the father has repeatedly cited a character qualified as "the best geneticist in the world," Edward Browm, related to NASA and the 2013 Nobel Prize in Medicine or Physiology, but there is no such figure as a disease specialist.
Other doctors allegedly involved in the diagnosis of the disease (of which the family has given names, as many others remain anonymous) have said not to remember it or have declined to make statements, calling the case surreal.
The operation to which Nadia supposedly had to undergo, "a genetic manipulation prohibited in Spain" carried out through three holes in the neck, is not possible, according to the specialists consulted by Hypertextual. In addition, at the moment, research in experimental therapeutic options is not being advanced.
The father has sometimes said that it is the second rarest disease in the world, with only 36 known cases, but many more are documented.On the other hand, the Nadia Nerea Association does not belong to the Spanish Federation of Rare Diseases and the money obtained in one of the previous campaigns was self-transferred to the same association created by the parents.
Definitely, Although Nadia Nerea's disease is real, everything indicates that she has lied to exaggerate the seriousness of her situation, playing with the people who made their donations. If this whole story is confirmed and we are facing a campaign based on lies, would it affect the solidarity that other really serious children could receive?
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More information | Medigraphic
In Babies and more | What do parents of children with rare diseases ask for an easier life ?, February 29, day of rare diseases, but not invisible
