Rare Disease Day: "We have 10 years to find a treatment for our child's rare disease" | Society
The whole garden of the house where Mario lives in Malaga is covered with artificial turf. It is the track that crawls at full speed, playing with his brother Alejandro, two years older. Everything normal if it were not because the child is three and a half years old, and has not been able to walk. "Once, about two months ago, he took a couple of steps, but he has not done it again," says his father, who is also called Alejandro, a person in charge of marketing She is 43 years old and does not work now to take care of her son. "I'm conciliating," he says with unconcealed pride.
Maribel, the mother, is 42 years old, is an oncologist at the Hospital Clínico de Málaga, and tries to put realism, not pessimism, to the explanations of her husband, who is excited to talk about "courage, sense of humor and strength" of his son. "We realized that something was happening because he did not reach the milestones of his development on time, he did not sit down after eight months," he says.
At nine months they started with the tests. "We went privately to see a neurologist, but he advised us to go to an early care unit." Then the family began a journey, which is usual among those who have one of their members with a rare disease -In Spain there are about three million people with one of these conditions, and this Thursday is celebrating his day-. Imaging tests, lumbar puncture ... Until they decided on a genetic analysis, also in a private laboratory that Maribel knew for her work as a doctor, who "made them price" (about a thousand euros) and gave them the diagnosis: Mutation of the KIF1A gene. "This test should be offered before in public health to all children as soon as a problem appears, it should not be at the end of the process, it is not so expensive anymore", says Maribel, which is one of the objectives that is raised by giving visibility to your situation.
Their case is so rare that eight months ago, when they were diagnosed, they were the first in Spain (there are some 200 known in the world), and they themselves went to register the disease at the Carlos III Health Institute and at the Federation of Associations of Rare Diseases (Feder). Since then, they have located another child in Huelva with the same mutation, which is not hereditary, but de novo (occurs during the formation of gametes). "Surely there are many more undiagnosed cases confused with cerebral palsy or other diseases," says Maribel.
This gene encodes a protein that, as Alejandro explains, acts in the transport of signals within neurons. "The doctor told us to imagine a man carrying a huge stone." With the anomaly, that process slows down, the stone does not arrive, or it arrives late or stays in the way obstructing the arrival of other signals, and the activity of the neuron is altered. In the case of Mario, it produces muscular hypotonia (that's why he can not stand) and has an affected optic nerve (this was, in fact, one of the keys to the diagnosis), although at the moment his vision is good. In addition, his intellectual abilities, "although inferior to a child of his age, are acceptable," says the mother. "But he has repeated nursery," says the father with humor, who explains that they have done so to strengthen before going to Infant, especially to see if he learns to control the toilet, "which is his biggest problem to socialize now" .
The pathology has an uncertain point: its evolution. "At the beginning, when they gave us the diagnosis, it affected us, but we thought we just had to get used to it, but later we were shopping, and Maribel saw that it was degenerative on the cell phone, we were sunk for three days," says the father. It is not known how long the child will be evolving positively or what he will do - "we no longer believe that he will be able to walk", admits Maribel-, nor when will he begin to lose what he has won. Meanwhile, "we have it bursting with activities," says the father. "He is the first child in his equine therapy group to go gallop, and he loves it, and also nothing is quite good, with only a few little sleeves, whatever it is to strengthen that muscle." In the garden, a kind of parallel bars with small obstacles try to encourage Mario to exercise. "It's his particular American track," explains the father, but the boy clearly prefers to throw himself with his brother down the slide.
The family lives day to day. They do not know what the future will be like. "The window we have to find a treatment is five to ten years," says Alejandro. They calculate that then the deterioration will have advanced a lot. Your hope is set in the genetic edition. "From a disease that is known to be caused by a single gene and what protein it makes, it should not be that hard to find a remedy." They belong to the KIF1A Foundation, the only one in the world that has as its principal investigator Wendy Chung, from Columbia University (New York). "When they gave us the diagnosis, they gave us a poster with information about the disease, such as those presented at the congresses, at the bottom of which was their name, we wrote that same night, and the next day they answered us. relates Maribel. They also have a Facebook group to raise money.
This summer they plan to go to New York to the first world meeting of those affected. With two reasons. The first, to meet other parents and support themselves; the second, that Chung take samples from everyone. "With the activities of the foundation we have already got an avatar mouse [que tiene la misma mutación] to investigate. The other day we saw a video and there he was, dragging his legs and shit, "says the father, now Chung wants to gather cases to start clinical trials, either administering the protein they lack, correcting the defective gene. In the short, a blow to the mouth that has been given by the child with the toy fire truck that the brothers share takes all the attention.
