Gabriela Vazquez and Nicolas Pace Are the parents of Sofia (6) and of Sol (3). The smallest of the sisters She is the only Argentine who suffers from a rare disease that she and 59 other people in the world suffer from, with a confirmed diagnosis.
What is it about? TANGO2, despite coinciding with the typical Argentine dance characteristic of the Río de la Plata region, it is an acronym with which it is called a very rare and genetic neurodegenerative condition, of English Transport And Golgi Organization Protein 2.
Consulted by Infobae, Alejandro Andersson, a neurologist, director of the Buenos Aires Neurology Institute (INBA), teacher and researcher, specified: “It is a genetic, neurodegenerative disease. The altered gene fails to produce the TANGO2 protein necessary for the functioning of an organoid in our cells: the Golgi apparatus”.
“Macromolecules like lipids and proteins within cells are assembled into an organoid called the endoplasmic reticulum. The subsequent transfer and some chemical touch-ups by adding sugar depends on the Golgi body ”, he explained.
It is this step that fails in this rare disease, according to the renowned neurologist. A) Yes neurons and muscle cells gradually collapse and degenerate. The organoid mitochondria responsible for the generation of cellular energy do not operate correctly.
“This causes: encephalitis and rhabdomyolysis. (inflamed neurons and muscles). Mitochondrial disease gives you a lack of energy. Patients have a progressive deterioration of neurodevelopment, epilepsy, cardiac arrhythmias, hypothyroidism and metabolic crises such as elevated lactic acid and ammonia in the blood ”, Andersson completed.
According to the expert, “it is a very rare orphan disease. But it is thought to be underdiagnosed due to lack of knowledge”.
Sol’s day to day is very difficult. His parents do everything and more also so that he has the best possible time. But sometimes genetics determine people’s lives. If we do a quick calculation, the world population is estimated to be around 7.7 billion, according to the WHO. If we take into account that only 60 people have the diagnosis confirmed by TANGO2, the number of the probabilities of suffering it is so miniscule that it is even difficult to express it.
Anyway, 60 stories, 60 lives, 60 families, -and even if it was a single case- They are cause enough for the scientific community to search against the clock for ways to find out more about this disease. That is why Gabriela and Nicolás fight every day of their lives. Infobae spoke with them to learn more about Solcito’s life:
“How old is Sol now?” At what age did you begin to manifest symptoms?
—Solcito is 3 years old and presented his first symptom at 17 months, when he had a single episode of alteration in gait, with instability and loss of balance.
Until that moment the only concern was the delay in its development, since although it met the expected milestones, he was slow to sit, walk, speak, etc. But nothing that at that time would worry the professionalssince each child develops differently.
At 23 months, Sol began again with episodes of altered gait, instability and trunk tilt, increasingly frequent.
She was hospitalized twice, they performed different studies, even under sedation.
They performed a brain MRI, angio-MRI, sleep study, marrow MRI, blood tests, all returned normal results.
From that moment she continues with the episodes, he loses body strength, which at times leads to his body not being able to support itself. In other words, your body runs out of energy. She cannot sit, stand, or hold her head, she begins to drool and falls. Many times it also affects your vision, he cannot focus his gaze.
“There they could find out what disease Sol had?” How was it diagnosed?
—Symptoms were tried to treat with medication, but none had the desired effect.
Finally, performed in a laboratory abroad, a genetic study called exome sequencing, in order to respond to what was happening.
In March 2021, the results showed that Sol has an ultra rare disease, called TANGO2, of English Transport And Golgi Organization Protein 2.
TANGO-2 is part of a family of membrane trafficking proteins involved in the complex interaction of the Golgi apparatus and the endoplasmic reticulum.
“They want more research on TANGO-2, why?” How would you explain the importance of studying these types of rare conditions?
-Precisely the paper informed us that a loss of 2 copy numbers was identified spanning exons 3-9 of the TANGO-2 gene. The result is consistent with the genetic diagnosis of metabolic encephalomyopathic crisis syndrome, recurrent rhabdomyolysis, cardiac arrhythmia, and autosomal recessive intellectual disability. It is a rare and genetic neurodegenerative disease.
The seizures are of variable frequency and severity, manifested by profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with miglobinuria, elevated CPK levels, hypoglycemia, lactic acidosis, elevated acylcarnitines, and a comatose or disoriented state.
Global developmental delay, intellectual disability, and cerebellar and pyramidal cortical signs develop with subsequent progressive neurodegeneration, causing loss of expressive language and varying degrees of muscle atrophy.
The diagnosis of this disease is reached through clinical suspicion, that is, the association of metabolic crises with rhabdomyolysis and / or neurodevelopmental delay and / or hypothyroidism.
—Since there is currently no treatment or cure for this disease, what are the expectations for Sol?
—The disease to date has no cure or treatment, but as parents we try to give it everything we can. She drinks her mitochondrial cocktail, receives therapies (speech therapy and psychomotor skills) and in turn attends the garden daily. They contain her there, take care of her and even if she has difficulty keeping or walking, they hold her for as long as necessary so that she does not lose her space and contact with her friends.
This is the sun book, we write it day by day. We don’t know what will happen in the next few minutes, ever. But we do live to provide you with a good quality of life.
– How many people, that you know, live with TANGO2?
—She is the only girl diagnosed in Argentina, and in the world there are about 60.
As so far there is no cure or treatment, there is only symptomatic therapy.
Affected patients have a special emergency protocol. In addition, they are given a daily “mitochondrial cocktail”, composed mostly of coenzyme Q10, carnitine, riboflavin, creatine, vitamins b1 b6 b12, among others. It can vary from patient to patient.
Currently there are ongoing investigations in other countries, and at a symposium held on November 6, they reported that it is believed that there may be around 6,000 undiagnosed affected patients.
—What would you advise or say to other parents who are going through similar situations?
—Both the patients and the families of people affected by rare, unknown diseases, take years and endless studies to reach a diagnosis, if at all.. Needless to say, not everyone has the possibility of accessing genetic studies.
It is believed that there may be around 6,000 undiagnosed affected patients
It is very important to spread this disease, since what is not known is not diagnosed.
Since early detection is essential, we also believe that this gene needs to be added in prenatal studies.
An early diagnosis can even prevent the death of a patient affected by the TANGO2 gene.
– How are these days of so much uncertainty?
—It is a difficult road to travel, We do it with love and with the support of each person who crosses our lives. Family, friends, professionals, even people we do not know, but we know that they are helping to spread this disease and the life of Sol, from his place.
It is important to hold on to the people you love. Do not lower your arms. Fight to get the diagnosis.
We are the ones who have to be strong, transmit it and make them strong too.
Good use of social media is important too. In our case, from my personal Instagram account, @ tango2argentina, we disseminate what the TANGO2 disease is in general and the evolution of the Sun.
We are in contact with families who also have their children affected by TANGO-2, we share experiences, we restrain ourselves, we feel understood. That is very helpful.
We hope we can count on everyone to achieve the maximum possible spread of this disease, so that more research can be done and thus obtain answers in the midst of so much uncertainty.
Photos: courtesy Gabriela Vázquez