Pedro has spinal muscular atrophy and his family demands a new treatment

The families of Mendoza ask the national authorities, that they register in Argentina, the first and only treatment against Muscular Spinal Atrophy (AME). Pedro Kali is 6 years old and is from La Puntilla, Luján. His parents, Natalia Guillot and Gustavo Kali, learned of his illness a year and a half after a long pilgrimage between different doctors in Mendoza

"Pedro was a year old and had trouble crawling in. Hospitals and doctors' offices, all told us different things, until the doctor who sees him still gives in. When I found out that it was difficult and that I was already pregnant with my second child. " , says Natalia Guillot, a genetic and neuromuscular disease, often fatal, that causes weakness and muscle atrophy due to the loss of motoneurons controlling movement.It is considered ultrarara because it affects 1 in 6,000 children.

Spinraza is applied by injection, 5 ml are extracted from the brain of the spinal cord with lumbar puncture, and the drug is delivered instead. Spinraza increases production of protein , which causes the disease, and thus promotes the maintenance of motor neurons of the spinal cord.

"I will never forget when I was little, I was sitting, his head was falling and he was telling me to lift his head because I could not," she says with excitement

. with the treatment, the change that they have noticed is 100%, since they can do things that they could never do.

Raise your arms, hold a glbad and place it in your mouth, press the button to lower the glbad. you have your head high, rest on your stomach; are things that people have naturalized and work that children who have this disease, lose.

The drug has been approved for the treatment of all types of ADM in children and adults. First, the US Food and Drug Administration (FDA), December 23, 2016. Then, followed by the EMA (European Medicines Agency) of the European Union, on 30 May 2017.

Currently, there are already 41 countries that have enrolled, and of these, 25 are covered by the state in its entirety.

"Today, we have to resort to justice so that every 4 months and after a lot of struggle they give us a dose, they are 3 injections a year, which costs 300 thousand dollars," says Natalia Guillot

She explains that they need speed and not too much obstacles as it is a race against the clock due to the advancement of spinal muscular atrophy .

In the case of Pedro, they first had to resort to the National Administration of Medicines, Foods and Medical Technologies (ANMAT) to issue a certificate authorizing the drug under the Register of Specialties. Medical s (REM). Second, go to social work, which rejected the request. Eventually, they filed a writ of amparo and after declaring before the Federal Court, the order was given to the prepaid.

"He was the eighth of fifty to receive authorization for treatment, however, we must repeat the process He said that it was a costly treatment, but that it is registered in the country, it can be negotiated up to 50% discount.It added that in Argentina there are about 250 cases, of which only 50 are treated, and another 50 documents. [19659002] "In Mendoza there are 8 cases and it is the fourth at the national level, after Buenos Aires, Córdoba and Santa Fe.", Addressed to one of the members of Families AME Argentina

What is AME?

Muscle Spinal Atrophy (SMA) is a neuromuscular disease, genetic in nature, manifested as a progressive loss of This occurs because of the involvement of motoneurons in the spinal cord, which causes that the nerve impulse can not be tr ants properly to the muscles and that they atrophy.

Spinal muscular atrophy is a hereditary disease, i.e. Parents must carry the gene responsible for the disease. Even if both are carriers, the probability of transmission of the defective gene is 25%. One in four and independent in each new pregnancy

Joint Sacrifice

A medium-sized woman came out the door, with her broad smile and long curls. His voice overflowed with strength and at the same time sweetness.

Natalia Guillot, mother of Pedro and Manuel, 6 and 4 years old; The wife of Gustavo Kali and accountant. At 33, she left her job to take care of her children, because in the company where she lived, she did not want to reduce her workload. Today, at age 39, he returns to the ring, at least for a few hours.

Two children run in the living room and play with dolls. The youngest has long hair and a lot of joy. The biggest, the short hair, has valves on the knees and uses a pronomobile to move only. Meanwhile, a big man, his father, works in the yard.

Everyone contributes to fight a disease that is nasty and moves fast. The body, the effort, the work, the smiles. Life is not in color, but as a family, they know how to cope with what they had and are fighting for a better future for Pedro