Larissa Gabriele and Lucas Patrick are 19-year-old twin siblings who share more than their physical features and their emotional connection. They are from Sabará (MG) and both keep daily care to control the congenital hypothyroidism, diagnosed in neonatal screening (heel prick test). This condition is characterized for the malfunction in the thyroid gland, which is responsible for producing organism’s essential hormones, and it may cause severe sequels, as intellectual disability, when not identified and treated early.
Regina Barbosa, an elderly carrier, the teenagers’ mother, tells us that she took her children to take the heel prick test in Belo Horizonte when they were 10 days old, five days more than the recommended for the test. Some days later, the family received the information from the health basic unit that there was a change in Larissa’s test results and that they should attend their first medical consultation: “It didn’t take long and the health car was already at my door with everything scheduled”.
“At first, I was scared because I thought she wasn´t going to walk and talk due to the problem”, says the mother when recalling her daughter’s diagnosis. The treatment started and Larissa began taking the hormone replacement medicine on daily basis. “I suffered a lot, because she was so tiny and there were tests the whole week. I lived in Sabará and it was difficult to bring her here, but I had always had assistance and transport to take me to places, besides food”, adds Regina. The mother could only feel calm when her daughter went to develop normally: “She walked and talked in the right time. Now, I see that she has no problem, that she has great health; everything is a blessing”.
Lucas had his diagnosis confirmed only when he was three years old, because the thyroid gland dysfunction manifested lately and mildly. Nowadays, the young man follows the same treatment of his sister, with regular medical consultations in Belo Horizonte and daily hormone replacement. “We used to go to the doctor together when we were children and now we still do, we enter in the room together”, says Larissa.
Difficulties and experience
Among the situations faced since the twins’ birth, in 1997, the caregiver had to deal with the lack of support from her family, marriage problems and divorce: “Larissa was discriminated by the family because she was so little and took a lot to grow up. I barely had her father’s support”.
Between 2010 and 2015, mother and children lived in the municipality of Senador Modestino Gonçalves (MG), in the area of Jequitinhonha. There, the siblings kept their medical follow-up through Minas Gerais Newborn Screening Program (PTN – MG), coordinated by State Health Department of Minas Gerais (SES-MG) and provided free of charge for every children diagnosed by the heel prick test in Minas Gerais. During this time, the tests and consultations happened in the municipality, according to the protocol of decentralized care of the Congenital hypothyroidism Program. “I didn’t have to come to BH. It was good. That was my concern. So I found out I could live anywhere”, points out the mother.
Currently, Regina lives with her children in Belo Horizonte and tries to be always by their side: “It is really important to have parents’ love closely, they feel happier and safer”. She even refers to the support received during the whole treatment by the Center for Newborn Screening and Genetics Diagnosis (NUPAD) team, which executes PTN-MG. “I thank God and Nupad team, doctors and psychologists who helped me, because they were and are my family. I hope they continue helping other children”, she stresses.
Love between siblings
Nowadays, Larissa and Lucas have a completely normal life and choose their own paths. After finishing high school, the young woman started working in the telemarketing sector and intends to follow her mother’s steps; she is about to finish the course to be a Nurse Technician: “I intend to take the Nursing course, to get married and to have children”. Lucas is a cook’s helper and wants to take the Mechanics course. “He has a car driver’s licence and recently he also took the motorcycle’s licence; he is a very responsible boy”, Regina points out.
In their free time, Larissa says that her brother prefers to go out with his friends, while she is quieter: “I use my cell phone, access social networks. But I want to join a gym, to use my time. Even the doctor told me that it will be good for me. Lucas is already in the gym”. In the face of the tiny differences, the young woman recognizes the strong connection with her brother. “We are close, we have a strong bond, one cares for the other”, she says. The mother has the same opinion and says humorously: “And Lucas respects her, because she is older; she was born two minutes before him. They are a great match”.
PTN-MG
Since 1993, neonatal screening test for congenital hypothyroidism is performed by Nupad throughout the state of Minas Gerais by PTN-MG, under SES-MG management.
Now, PTN-MG counts 5.5 million children screened and 1,377 people under treatment and outpatient follow-up for the disease (data of July/2016). The incidence is of one case in 3,500 living newborns.
Besides congenital hypothyroidism, PTN-MG diagnoses other five diseases: phenylketonuria, sickle cell disease, cystic fibrosis, congenital adrenal hyperplasia and biotinidase deficiency.