At 10 months, Augustine refuted the doctors’ predictions: Most did not expect to survive for more than 2 weeks.

She knew immediately that the pregnancy would not end

Agustín is the third son of the family. Mother Indrė (her name was changed, her real name and surname are known to the editorial board) learned of her son’s illness around the eighth week of pregnancy, during a visit to a gynecologist.

At that time, the doctor saw that the fetus had tachycardia – too frequent heartbeats and the shape of the head was different than usual.

On that occasion, the gynecologist immediately advised Indre to go to the Kaunas clinics for an investigation. Still, it was too early to diagnose the disease. At 18 weeks gestation, the tests were repeated, and then the mother heard a preliminary diagnosis: the fetus has many different signs of Patau syndrome.

For this diagnosis to be definitively confirmed, it was necessary to perform fetal water tests. After them, Patau syndrome was confirmed.

According to the interlocutor, she felt overwhelmed at the time, but immediately said that she would not terminate the pregnancy.

“I am a believer and my opinion is that I have not given my life, I have no right to take it away. I said that to my gynecologist right away when she, scared, told me to go to the clinic for tests. I told him not to be afraid, because whatever happens, I will not interrupt the pregnancy.

Of course, the day I found out, it was hard, I cried a lot because they told me there was a high risk of miscarriage, and if I was born, I could be stillborn. Even if they are alive, these babies usually survive up to 2 weeks. All this information was truly amazing. But then I thought that God was sending me a test, a challenge, and I signed documents that, knowing about the disease, I still wanted to continue the pregnancy. Although the mother’s internal instinct said there would be no miscarriage, “said Agustín’s mother.

Although in small steps, but getting stronger

Although the disease is genetic, neither Indre nor her husband are aware of relatives of this syndrome. According to the interlocutor, even the doctors have no explanation why this happened.

“We suppose that maybe that’s why he is so strong, he has a strong heart, although in general these children have many heart defects,” said the interlocutor.

According to Indre, he has joined a Facebook group of families raising children with Patau syndrome around the world. So, according to the interlocutor, Agustín is doing very well compared to other children.

The child ate alone, thus avoiding gastrostomy and tracheostomy. Mom is happy that Augustine is getting stronger every day, albeit in smaller steps than her peers.

“Sure, his development is lagging behind, he’s already 10 months old, but he’s still not holding his head.” Your muscles are weaker, which is also related to brain activity. But little by little it is getting stronger, it is advancing ”, said Indre.

Augustine had already had 3 surgeries, had lips and both eyes operated because she had congenital glaucoma. If the operation had not been carried out, he would have been blind in the long run.

Hearing tests revealed that Agustín could not hear at all. But probably not for long, because the child is waiting for hearing aids and a little later for implants, which restore hearing to 100 percent.

“Patau syndrome is a triple of chromosome 13. All children with this disease are completely different because the symptoms depend on how many organs the chromosome is damaged. Agustin’s eyes, ears, palate, and fingers were damaged. Others have more or less infractions. Another child may be completely different, “said the interlocutor.

Some of the symptoms, he said, go away on their own as they grow older. This is what happened to Agustín with liver and heart problems. However, other symptoms and injuries may appear over time. What will happen to the doctors of St. Augustine they do not predict. And most of the predictions have already been refuted by Augustine.

“Well, it is said that the first year is very important for these children. If a child is one year old, then 1 to 5 years is almost 100 percent. it survives, “Augustine’s mother said.

Although the disease is complex, Indre does not lack inner strength and optimism. And this is probably felt by little Augustine, who, after denying all the blackest predictions of doctors, grows and strengthens.

The syndrome is characterized by a triad of symptoms.

Milda Dambrauskienė, a pediatric neurologist at the Kaunas Neurology Clinic, spoke more about Patau syndrome.

Patau syndrome is a serious genetic disease. It is one of the three most common congenital syndromes due to changes in the number of chromosomes when there is too much chromosome in the cells. Typically, a person is born in each cell with 23 pairs of chromosomes inherited from the mother and father. If a chromosome has three copies instead of two, it is called a trisomy. The most common and well-known Down syndrome is when a child has three copies of chromosome 21. The second most common is Edwards syndrome, which is caused by a trisomy on chromosome 18. And in the case of Patau syndrome, the Cells contain an additional 13 chromosomes, which leads to various developmental disorders of the nervous system, eyes, internal organs, and severe developmental delays.

Patau syndrome can be suspected during examinations during pregnancy: by maternal blood, fetal ultrasound, amniotic fluid. Confirmed by fetal karyotype (chromosome) test.
The incidence of this syndrome varies from 1 in 5,000 to 1 in 20,000 newborns.

Because a large proportion of pregnancies in which the fetus has trisomy on chromosome 13 result in miscarriage, the exact frequency is difficult to calculate. Newborns with Patau syndrome are born underweight and survive for only a few days due to serious neurological and cardiac disorders. Most babies die in the first few months of life, with only one in ten having their first birthday. The risk of recurrence of this syndrome during other pregnancies is 1%.

Patau syndrome is characterized by a triad of symptoms: non-growth of the lips and palate, polydactyly (extra fingers) and microphthalmia (ocular abnormalities). However, more systems are also affected: Babies with Patau syndrome are characterized by low muscle tone, various structural changes in the brain, facial abnormalities, hearing impairment, heart defects, and defects in the formation of the urogenital system.

These defects on the lips and palate cause feeding difficulties. Due to visual, auditory and nervous system disorders, these babies have little response to the environment, their development progresses very slowly and is always far behind their peers, they do not learn to walk or speak. About a quarter of children with Patau syndrome develop seizures.

We cannot change the number of chromosomes at this time, but scientists are looking for ways to use gene editing technology, such as Down syndrome, to “turn off” an extra chromosome and prevent its alteration.

However, until now, the treatment of trisomy is symptomatic and supportive. It is important for babies, first of all, to ensure nutrition, adapt to the situation, additional measures to help them eat. Due to the severe condition, anatomical changes in the first months are difficult to perform surgical interventions, these babies often need to be raised to undergo surgery.

As in Agustín’s case, surgeries require a variety of, and generally not one: facial and maxillofacial surgeons correct facial and palate defects, ophthalmologists deal with ocular pathology, and cardiac surgeons operate on heart defects. Neurologists prescribe antiepileptic drugs, surgeons adapt hearing aids. An important role is played by a team of rehabilitation specialists: a physiotherapist, a speech therapist, an occupational therapist, who provide the opportunity to harness the full developmental potential of the child.