Valentim’s story (Born 2019)

Valentim was born in November of 2019 at 38 weeks and 2 days after a cesarean delivery, gestation with the mother with hereditary thrombophilia, had changes in the amniotic fluid, and gestational diabetes. Valentim at birth had the apiga 9 and 10. Arriving at the fourth Valentine, he was accompanied by the nurses in the medication of the dextro, due to the mother's diabetes, in one of these follow-ups he was taken to the maternity paediatrician because he was having bradycardia, so he was admitted to the neo natal unit, and did a battery of tests, a narrowing of the aorta was found, a hypospadias, ears with a slightly low implantation, and excess hair and body hair, was called a geneticist who asked us for a karyotype genetic test.

After discharge from the neonatal intensive care unit, where he stayed just one day longer than normal, we waited for a month for the test result, which to our delight was normal. With a month and a half of life, our son started having myoclonus, he had an absence crisis and stretched his hands and feet for seconds, we didn't know exactly what it was, the paediatrician said it could be spasms that many babies have. Valentim left the maternity hospital had difficulty breastfeeding, he suckled and cried all the time, and we started to suspect a hidden reflux or being aplv (cow's milk protein allergy), our journey started by doctors and doctors because we entered with several formulas, and it didn't work with most because the reflux got worse and so he got constipated, with the need to put a laxative suppository.
 
We found a doctor who recommended giving us anti reflux milk, aptamil was our salvation, he was able to breastfeed without crying, but after half an hour the gas crying and intestine started, we also started with losec plus, which is an omeprazole. At 2 months and 10 days, our baby started showing symptoms of bronchiolitis, we took him to the hospital and the case was hospitalisation, to our surprise they admitted him one day and were discharged the next day, his bronchiolitis got worse at home, and he had his first seizure, he had his eyes looking up, arms, legs stretched down and a purple mouth for a few seconds and we almost died of fright because we barely imagined what it was, we arrived at the emergency room again and after being attended to he had another episode of seizure and doctors immediately put phenobarbital in the vein.

Valentim spent 21 days in the ICU to treat bronchiolitis and to investigate seizures, he did a CT scan, MRI scan, EEG. We were discharged from the hospital without the certainty of what caused his seizures, he left taking phenobarbital and depakene, but he got sick to his stomach. Arriving home he had some very weak and quick escapes. With this uncertainty in the diagnosis, we researched and found a well-known doctor in São Paulo, doctor Fernando kok, neuropediatrician and geneticist, he asked us for a SNP array genetic examination and microdeletions, exchanged depakene for keppra. In this period where Valentine was already 3 months old, we were not seeing him progress in development because I am a mother of 3 children, I was scared, because he still did not smile, did not roll and did not hold his neck well.

In the meantime we met a wonderful neupediatrician who was following the seizures of Valentim made the video EEG that was normal for the age. At 4 months and 28 days we received the diagnosis of Valentim for SMARCA2 (NCBRS). At 5 months Valentim was already doing physical therapy, TO, speech therapist. Today at 6 months he is doing all these therapies and we include water aerobics. On his development, we are seeing progress, he is already sitting on his kick drum, he is holding his neck tightly, he is able to pick up some objects, he rolls, his hands are becoming more open. He still has cramps and sometimes the reflux attacks, I deal with painkillers and colic calm and omeprazole, I breastfeed 210 ml’s of anti reflux milk, I have started to present solids for him, cookies, small pieces of cake. He babbles a lot, he seems to want to talk, he is friendly but he doesn't smile much and he doesn't laugh yet. We recently took him to an ophthalmology that he diagnosed with mild strabismus, and very little hyperopia, very low degree, I always feel his eye irritated but it doesn't bother him.

His seizures at 5 months seem to have stopped. Today Valentim has normal weight for age and height too. He has a lot of hair, the hair from when he was born all fell out very little. He cries a lot since he was born everything is a reason and today we think the cause is the birth of two teeth that gave him acid diarrhoea, a day of fever and a lot of crying. Diarrhoea lasts for more than a week. Remembering that his intestines were extremely stuck and his stools were like those of an adult. Today he still takes phenobarbital but will start to wean to stay only on keppra. All the characteristics found when he was born, were very light and did not interfere with anything in his life and did not progress until then. We are hopeful.