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Augustinas’ mother, Aurelija Berankienė (39), told the tv3.lt news portal that Patau syndrome is the main diagnosis of the son, but it also determines many other pathologies that have been confirmed for the son.
“The main diagnosis is Patau syndrome, followed by all other diagnoses: epilepsy, congenital glaucoma in both eyes, deafness, lack of growth of the lip and the left side of the palate,” said Augustine’s diagnosis by her mother.
Suspicions arose from the start
Patau syndrome is a tripling of chromosome 13, but it is not clear how many organs it damages, in which organs the cell triples and the lesions are there, and each case is individual.
“Normally a person has two chromosomes and Augustine has one chromosome 13. I know he has lesions in his brain because his development is slowing down, his brain is somewhat damaged. He was also called polydactyl, with a sixth finger on his hands. The syndrome is divided into mosaic, partial or complete. When I was researching, I didn’t even understand which one. Basically, it doesn’t make any difference to us personally, total, mosaic or partial, “said A. Berankienė about the syndrome.
That the child in the womb had Patau syndrome, the family learned around 18 weeks of gestation, but the speculation that something was wrong was from the first visit to the gynecologist.
“My gynecologist from the beginning, during the first ultrasound, suspected that something was wrong because there was tachycardia, frequent heartbeats and a stuck head shape. She strongly encouraged us to go to the clinics for more detailed research there. In the eighth week of pregnancy, the clinics saw nothing but tachycardia and an enlarged bladder. My blood tests did not show any genetic diseases either. Then at 18 weeks, he saw the first symptoms: a lip, a heart attack, blood circulation, and he saw six fingers. He saw everything that is characteristic of this syndrome, then he did an examination of the amniotic fluid and finally confirmed it, ”recalls Augustine’s mother.
Like today, the woman remembers having doubts about the examination of the amniotic fluid, considering if it was necessary, but the doctors assured that it was important not only for the child, but also for the mother herself.
“I really didn’t want to do an amniotic fluid test because there is still a small risk to the baby, but they assured me that even without the test, the pregnancy itself is already risky. Then I agreed to do some research. Although at first I asked who needed those tests if the child could be helped while he was still in his mother’s womb. He said that he could not help the child, but that he could prepare the delivery team by already knowing the diagnoses. “
I leave with a smile
Hearing the child’s diagnosis, Aurelia says that she suffered a slight fright, but she always knew that the baby would see the world and carry it in her womb as long as it was destined: save until the end as much as God gives you. I remember sitting at the door of the genetics cabinet and thinking that there would be a test of faith here. The Lord has given such a test to the family, it means that we need it and we must obey the will of God, because it is his created life and we can only help protect it ”.
The woman is happy that the pregnancy was smooth, but reveals that she was ready to travel to the hospital at any moment; doctors said a miscarriage could happen at any time.
“The pregnancy was very smooth, everything was fine. Here is my third pregnancy, the uterus pinches the hip joint, it was difficult for me to walk, especially in the mornings, but here it is normal for anyone to pass. Everything was normal, done without problems at 38 weeks and 4 days. They told me I could have a miscarriage at any time. He was ready for a backpack, if at all, if he needed to ride. I felt the child’s movements very early, they were strong and it seemed to me that he might have a miscarriage, because such a child is strong ”, recalls A. Berankienė.
And the delivery went smoothly, as the woman herself says, with a smile. That day there were many mothers in the clinics, so I had to stay alone, but she does not complain, everything turned out like butter, and when Augustine saw the world, her mother calmed down with her crying.
“The delivery was really very easy, one of those deliveries where they say, with a smile, even though there were many mothers in the clinics that night and the staff did not have time to run around the offices. It was, as I said, a button in my hand, it was one of me who was praying silently with prayer and already, when the waters drained, I pressed the button. The labor went smoothly and quickly, with the birth of a child and crying, the Apgar scale scored 9 to 10. She also gave a baby to the breast. “
During the first year of life – 3 operations
Soon after, Augustine was taken to the intensive care unit and had to undergo investigations. The house managed to return only a month later: it was necessary to spend 3 weeks in clinics and another week in the rehabilitation center.
“The main reason was that he had a meconium plug in the beginning and that interfered with his entire diet, he could no longer eat. At first he did not understand, he thought, perhaps what kind of intestinal malformation, he inserted the probe, because he saw that the child was no longer eating, through the probe, he began to probe, everything is going the other way around. Maybe 4 days passed before it was emptied. “
After learning how to use the catheter at the rehab center, they were able to go home. Aurelia is glad that the tube did not have to be used frequently, because the son himself began to drink his mother’s milk from a bottle and everything went well.
Agustín only has one more, he has already had 3 important operations, and he has another one ahead: “They operated on his lip and at the same time he cut his sixth finger. He then underwent surgery on his left eye for congenital glaucoma, and later his right, as well as ear tests under anesthesia to examine exactly how much he was hearing. We are still planning an operation to fix the palate. “
The family faces difficulties: the son has to visit an occupational therapist and a physical therapist regularly, and more intense exercise activates the brain, which also activates epilepsy, which means that he must take medicine.
“It just came to our notice then. Now, 11 months for him, his head still isn’t fully raised, but exercise really helps a lot. Now he’s starting to move his arms and legs more actively. His development is like that of a 3-month-old baby. He himself is not sitting, there is still no talk of joining or walking. Of course, a lot depends on the rehabilitations, but they must be combined with epilepsy, because the more rehabilitations, the more the epilepsy is stimulated , we have to do everything very carefully and coordinate with the neurologists, ”said A. Berankienė.
In addition to regular visits to a physical therapist, occupational therapist, and speech therapist, you also have to travel to a neurologist every three months to see an ophthalmologist and an otolaryngologist for a time. However, the mother is glad that this care is sufficient.
“Now only the tools are needed more: they grow the smallest car seat and they need special because it does not support the head. You need a special high chair, wheelchair. We only look at those things”, smiles the interlocutor.
The greatest motivation for not giving up is the child.
It is true that there are no clear predictions, but it is a great joy that Agustín is already 11 months old: the woman says that the most important thing is to wait a year and then the survival curve jumps up.
“At first, I remember, our pediatrician said it would survive up to a year. But I think we will definitely get it, I don’t see any obstacle to that. As much as I was interested, generally those children, if they are one year old, then almost 100 percent, that they will also be 5 years old. We just live every day and we don’t know. Of course, the further away, the more I see that the child becomes stronger and better ”, Augustine’s mother is happy.
A great help to the family is the “Ray of Hope” community, where there is a lot of support and social media groups that connect children from all over the world with Patau syndrome, which gives hope, although people with the syndrome face to an untimely death. some not only reach adulthood but transcend the 1930s.
“When we communicate with other moms, the community, communion helps a lot. I am also in a group of children from all over the world with Patau syndrome, that is, you know, there are children of all ages. There are those who turn 21, and there are more than 30, no longer children, but adults. Things happen. It is very difficult to predict, because each child with this syndrome is unique, it all depends on how that trisomy spreads in the body, how many organs are damaged ”.
When asked what challenges she faces, the woman smiles, like all mothers. The hardest part is spending time: two more children, who need attention, are turning at home, a man, and the house is not disappearing anywhere.
“Accept the situation as it is, because sometimes there are all kinds of thoughts and how to balance the time to pay attention to other children, husband, home, home. Probably the biggest challenge is how to get it all together, setting the right priorities.”
Faith and prayer, community, support for family and loved ones help not to give up on the family. However, A. Berankienė states with a smile that the greatest motivation for not giving up is Augustinas himself.
Those who want to contribute to the well-being of Agustín can donate by transferring the desired amount to the bank account of the child’s mother: Recipient: Aurelija Berankienė; Purpose of the payment: Support to Agustín; Account number: LT457044090101945171.
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