Student Guilherme Lago and his mother, seamstress Elismar Lima, had no idea that they could have two “old” twin babies in their home. Elis and Eloá, daughters of the seamstress and sisters of the student, were born prematurely in Roraima at just 32 weeks of age. According to Guilherme, they had normal characteristics of babies. But this scenario changed little after they completed five months of life.
“We began to notice that they had very thin skin, visible veins and small ears. My mother and I thought it could be because they were premature, but we started to investigate”, says Guilherme.
However, in a routine consultation with the pediatrician, Elismar was informed that her daughters were not developing as they should, in addition to presenting a delay in psychomotor development and difficulty in gaining weight.
Elis and Eloá were hospitalized with acute malnutrition during this period, as “it was notorious that they had something wrong”. It was during this same period that the diagnosis came: the twins had Huntchinson-Gilford syndrome, popularly known as Benjamin Button syndrome.
Huntchinson-Gilford Syndrome
The neuropediatrician responsible for diagnosing the girls, Charlotte Buffi, explains that Huntchinson-Gilford syndrome, also called progeria, is a genetic and non-hereditary disorder that leads to accelerated aging, with manifestations still in childhood. They are the only known case in the world of twins with the disease.
Charlotte says that Elis and Eloá, from the first months of life, had a very great difficulty in weight gain, that is, in the weight gained by eating.
Today, almost two years old, they are very small, all their growth has been compromised, and some motor development milestones have been delayed due to their size and lack of muscle strength, according to the neuropediatrician.
“We never wait”, comments Guilherme. But, even in the face of the difficult diagnosis, at no time did the student and his mother complain. Ever since they suspected that something was wrong with the girls, “they had their hearts prepared”, recalls the student.
Guilherme with his twin sisters, Elis and Eloá
Today, they are 1 year and 8 months old and live in RoraimaToday, they are 1 year and 8 months old and live in Roraima
Elis and Heloá were diagnosed at 5 months of ageElis and Eloá received the diagnosis at 5 months of age
They have needs like any other child, but they need special care.They have needs like any other child, but they need special care.
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Special cares
After the scare, Guilherme and Elismar began to look for ways to provide the girls with a better quality of life, even at the cost of major changes in their routines.
“Because they are twins, care is doubled. In addition, they will not have the proper development to be autonomous, so we need to donate 100%”, comments the student.
Today, at one year and eight months old, Elis and Eloá have needs like all other children to play, explore and also fight, but they need special care. In addition to the monthly follow-up with Charlotte, they have physical therapy once a month to help with sensory stimulation; they have consultations with a pediatric dentist to monitor the delay in teething, characteristic of the syndrome (only Elis has small teeth, which were born a short time ago); and also follow-up with a dermatologist, to take care of the babies’ fragile and sensitive skin.
Despite the limitations caused by progeria, Charlotte says that Elis and Eloá have very advanced attention, observation and understanding of the world around them. They understand what is being said and interact as much as possible.
The search for a treatment
Like all genetic diseases, Progeria has no cure. In an interview with metropolises, geneticist Salmo Raskin, director of Genetika – Counseling Center and Genetic Laboratory in Curitiba (PR), explains that, in order to cure diseases such as Huntchinson-Gilford, it would be necessary to correct the genetic material found in the cells of all the body’s tissues. Unfortunately, there are still no technologies capable of promoting this change.
Progeria, in most cases, occurs due to a genetic accident caused by a change in a gene called lamin A, located on chromosome 1. This gene produces the lamin proteins, responsible for part of preventing the aging of the organism as a whole, according to the geneticist.
When the lamin A gene mutates, it produces the protein progerin instead of lamins, causing premature aging, which manifests itself in:
- Short;
- Low weight;
- Early hair loss;
- Accumulation of fat in the body;
- Change in joint mobility;
- Bone changes;
- Skin aging;
- Cardiovascular impairment.
Fortunately, there is a drug already approved in the United States to increase the life expectancy of patients, Zokinvy. According to Raskin, the medicine works by inhibiting an enzyme that prevents the accumulation of altered progerin in the body. Guilherme and Elismar are already providing the necessary resources for the twins to receive treatment as soon as possible.
Raskin points out that Zokinvy is not a cure, but a way to postpone and delay premature aging and its consequences by about two and a half years.
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