Diagnosed with Down syndrome at age 35, elderly woman is a housewife and grandmother

It was completely by chance, during a consultation with a reproductive specialist, that housewife Izabel Rodrigues Monteiro da Silva, now 70 years old, was surprised by the Down syndrome diagnosis . At the time, she was 35 years old and had been married for eight years.

She really wanted to be a mother and, faced with the difficulty of getting pregnant, with the help of one of her brothers, she sought out a specialist to investigate her possible infertility, without ever suspecting the genetic alteration caused by atypical cell division, which results in trisomy of chromosome 21 .

When being evaluated, Izabel was told by the doctor that she could not be a mother because she had “mongolism” – a pejorative term used for many years to talk about someone with Down syndrome.

In fact, there are few records of cases of women with Down who become mothers (decreased fertility is one of the consequences of the syndrome, especially in relation to men), but Izabel contradicted scientific evidence and, less than a year after the consultation , became the mother of Cristinna, a girl without Down syndrome, and is now the grandmother of three children.

The housewife grew up and lived most of her life without a diagnosis. She says that this probably happened because she lives in the rural area of ​​Morrinhos, in the interior of Goiás, and is the youngest of 19 children.

“She lived in the countryside and was the youngest in a huge family. The common difficulties in people with the syndrome, such as difficulty starting to walk or talk, were attributed to the fact that she was the youngest child and was very spoiled. They said it took her a while to walk because she was always on someone's lap. It took her a while to speak because someone always answered for her”, says business administrator Cristinna Maria Cândida da Silva, 33 years old, Izabel’s daughter.

According to Cristinna, other common characteristics in children with the syndrome, such as a rounder face, slanted eyes, small hands and intellectual disabilities, were never noticed by family members and went unnoticed, precisely because they were very simple people.

“They lived on the farm, with practically no access to healthcare. My mother is short, so her hands were small and never attracted attention. She even attended classes at the rural school group, but, as she was unable to keep up with the class, she stopped studying. My grandmother taught my mother how to become a good housewife. Today she knows the vowels and knows how to write my name and hers”, says the daughter.

As she never suspected she had Down syndrome, Izabel grew up in that rural community, receiving home stimulation.

“When she couldn’t do something, my grandmother insisted and taught her until she learned,” says the housewife’s daughter. As she got older, her intellectual disability became more evident. “People started to notice that she was different and people started saying that she wasn't quite right in the head. Sometimes she gets a little out of touch, doesn't express herself very clearly, but none of that stopped her from building a family,” says Cristinna.

The daughter says that Izabel had other relationships, but she really fell in love with José, who also happens to be part of that giant family (he is Izabel's cousin). The two got married when she was 26 and soon moved to the city – he went to work at the city hall and she took care of the house. The diagnosis of Down syndrome came eight years later, confirmed by clinical examination and a few years later by karyotype examination (a test that evaluates people's chromosomes).

Izabel's pregnancy was normal at the time – with very few prenatal consultations and no ultrasound –, but in the end she had pre-eclampsia, which meant the birth had to be brought forward. Cristinna was born in April 1990 and grew up under her mother's care, even with her mother's limitations. “For me, my mother was always like everyone else’s mothers. I have no memory of anything in my childhood being different,” she says.

When Cristinna was a little older, during a science class in elementary school, the teacher explained about Down syndrome. Cristinna raised her hand in class and said: “My mother has this syndrome”. She was discredited by the teacher, who said it wasn't possible. “I was uncomfortable and went to research more about it. I saw that the life expectancy of people with Down was around 35 years and mom was over 40”, she says.

Longevity with the condition

International studies indicate that, in the last 40 years, Life expectancy of people with Down has increased considerably . In the 1920s, it was around nine years. In the 1980s, it increased to between 25 and 30 years. Nowadays he is between 60 and 65 years old. People with Down are increasingly living longer and becoming elderly. For comparison, life expectancy at birth for the general population is 75.5 years, according to data from the Brazilian Institute of Geography and Statistics (IBGE).

“It is quite rare for people with Down syndrome to have children and grandchildren. This won't always happen. But it is no longer so rare to see someone with Down reach the age of 60. One of the great advances in increasing the longevity of these patients, without a doubt, was the improvement of heart surgeries. Many children were born with serious heart changes and died very early, but with technology these changes are more easily corrected and these children live longer”, said geriatrician Marcelo Altona, who coordinates the Intellectual Disability Assistance Medical Group, at Hospital Israelita Albert Einstein. .

The doctor reinforces that other advances in medicine and society as a whole, such as the development of antibiotics, the emergence of vaccines, access to information and social inclusion, are also essential factors for people with Down to become increasingly independent and reach old age .

“It is important to explain, however, that the genetic alteration of Down syndrome favors premature aging in these people. The definition of elderly is a social convention, not a medical one, that was created for the organization of the social structure. There is no age at which we can say that a person with Down has become elderly, as is the case with the general population (which is 60 years old). What we tend to see is that, normally, these people start to show signs of aging earlier, around 20 years earlier,” he said.

Einstein's geriatrician also highlighted that people with Down experience the same chronic diseases of aging as the general population – with the difference that people with Down can develop Alzheimer's earlier, at a higher incidence than among the population without Down syndrome. . “But this is not supposed to be the end of the world. Alzheimer's affects around 30% of the general population by the age of 85. Our view, as a doctor, is to be aware of cognitive aging and the possibility of Alzheimer's disease from the age of 40, but continue to encourage autonomy and maintain these people's lives normally,” he said.

World Down Syndrome Day

There are no official statistics on the number of Brazilians with Down syndrome. What is known is that the syndrome is the most common genetic occurrence that exists and occurs in around 1 in every 700 births. According to the Ministry of Health, 1,978 births of children with Down were recorded in 2021 in Brazil.

March 21st is marked by the World Down Syndrome Day – a date on which the importance of raising public awareness about the syndrome, inclusion and the search for the same educational and social opportunities for everyone are highlighted. This year, the campaign theme is “End stereotypes”.

“People with Down syndrome live among stereotypes their entire lives. In the campaign folder, several young people report situations they experience on a daily basis in which their capabilities are questioned”, says pediatrician Ana Cláudia Brandão, from the Pediatric Specialties Center at Hospital Israelita Albert Einstein and coordinator of the Medical Assistance Group for Intellectual Disability at the hospital.

Another very important issue, highlights the doctor, is to end the infantilization of people with Down, especially in the health system.

“Often, the healthcare professional addresses the companion and not the person with Down. This is because there is still the myth that they are 'eternal children'. They greatly confuse the issue of intellectual disability with the impossibility of these people having behaviors and activities compatible with their chronological age. People's imagination is that people with Down will always be dependent on someone and behave childishly, and this is not true”, says the doctor. “Infantilization and overprotection are very common, including by families themselves,” she highlights.

The pediatrician also states that more and more people with Down are gaining autonomy and independence, going to college and the job market. “We know that everything will not be the same, but it is possible for these people to gain independence by adapting the content and the curriculum. Accessibility needs to happen in all environments. And this is one of the factors responsible for the increase in life expectancy of people with Down syndrome.”

Although the housewife did not have the opportunity to study and enter the job market, she became an independent woman, who took care of the house, her daughter and grandchildren. Cristinna says that the biggest barrier her mother faces is the disbelief in what she is capable of doing and the curiosity of the people around her.

“Who takes care of her house? She. Who took care of me? She. Who helps me take care of my children? She. I'm not romanticizing Down syndrome. My mother has problems and comorbidities. But, before she has Down, she is a person who also needs to be loved, understood and respected. In my opinion, the key to her independence is that no one ever said she couldn’t do something”, says Cristinna. After all, how many stereotypes were broken with Izabel’s life story?