Who is Juju?

Julia Cardoso Torres, Juju, is a pretty little baby full of dreams. Natural from Santa Cruz do Sul, Rio Grande do Sul, Brazil, Juju took a normal life until she complete seven months.


During her first months of life, she already presented a little delay in the motor development and received physiotherapeutic treatment because after all, she was a premature baby. However, the clinical worsening was fast and progressive, what required bigger care on it.


Everything changed on september 13th, 2019, when Juju was diagnosticated with SMA type 1, through a clinical symptoms (hypotony, hyperreflexia, the preserve of sensibility and tongue fasciculation), complementary exams with the genomic rearrange of the SM1 and SM2 Genes and Deletions Searches on the SMN1 5Q.


In the same period, Juju has started your treatment with the medication called Spinraza® (Nusinersen), accompanied by the neuropediatrician Dr. Cristiano Freire, having received the first dose in september 29th, 2019. Nonetheless, the treatment with this medication only retards the signs and treats symptoms of SMA.


Today Juju faces a race against the time, because the unique treatment capable of cure her is only offered in the USA and costs around 2 million dollars (9 millions of Brazilian Reals). The treatment is done with the Zolgensma® medication, that acts on the genetic root, providing a copy of the defective or absent SMN1 Gene, interrupting the disease progression.




Associação AME JUJURS

 

What is SMA?

The Spinal Muscular Atrophy (SMA) is a neuromuscular disease of variable clinical manifestation, that is genetic, degenerative and rare.


To understand better, it is needed to complain that many actions of the human body, as walk, seat, eat and breathe for example, happens thanks to the correct functioning of the muscles, that are controlled by the brain and the spinal cord.


When this connection between the spinal cord and muscles gets compromised, the signals and symptoms of SMA starts to appear.


Although, it is important to emphasize that the neurons responsible for the sensations and pain are not compromised. However, even that the child with SMA has difficulties of movement, she feels touches, warm, cold and pain.


SMA TYPE 1

It is the rarest and common type of the disease and starts to manifest itself at the children even before the six months of life. The main symptoms are:


Breathing difficulties: the paradoxical breathe and the breathing insufficiency are the main causes of mortality;


Motor difficulties: patients with SMA type 1 does not develop the capacity of seat without support and and have the loose of the major part or their movimentation still on the first month of life.


Feeding difficulties: the involvement of the tongue and pharynx muscles causes the lost of the suction when breastfeeding and dysphagia, what can cause nutritional deficiency and bronchopneumonal risks of repetition.


LIFE EXPECTATION

In the case that no treatment action are taken, about 68% of the patients dies before two year of life, and 84% before their four years old. The care adoption on respiratory and nutritional proactives can reduce the mortality before two year to 30%.