Dear family, friends and colleagues,
You all witnessed how happy we were for the last 7 months because the Lord blessed our union with a child in Mar’s [this is my nickname - ladybug] womb.
However, as some of you may already know, this happiness was short-lived. The 6th ultrasound 3 weeks ago showed what could be the presence of an omphalocele in our son’s stomach. We immediately searched the web and found out that an omphalocele is a congenital (found at birth) malformation in which variable amounts of abdominal contents protrude into the base of the umbilical cord, in our son’s case, his stomach and intestines. As the fetus grows in pregnancy, the intestines grow and get longer and project from the abdomen into the umbilical cord. This growth is taking place from the sixth to the tenth week of pregnancy. Normally the intestines return rapidly into the abdomen by the eleventh week of pregnancy. If this fails to happen, an omphalocele is present. However, more than half of all infants born with an omphalocele may have other birth defects. Some of these defects may be serious. This was what alarmed us instantly. We kept praying and hoping that it would just be an omphalocele, with no other complications.
We then went to see a perinatologist 2 weeks ago for a high-level ultrasound. We received more shattering news. Our son did not just have an omphalocele, he has several other congenital defects as well: hypoplastic left heart syndrome (A rare but serious congenital heart defect. It is the most common cause of death from heart disease during the first week of life.), absence of nasal bone, clubbed hands coupled with clinodactyly, among others. Presence of all these symptoms are highly suspicious for the presence of Trisomy 18. At present, further testing is deferred until Mar gives birth and the cord blood could be subjected to Karyotyping in order to fully diagnose the presence of trisomy 18.
What is Trisomy 18?
At conception, 23 chromosomes from the father and 23 chromosomes from the mother combine to create a baby with 46 chromosomes in each cell, two of each type. Each chromosome holds a particular "position" in the cell and carries certain genetic material. A trisomy occurs when a baby has three chromosomes in one position instead of the normal two.The most common trisomy is Trisomy 21, also known as Down Syndrome, where a baby has three of the twenty-first chromosome. Trisomy 18 is the second most common trisomy and occurs when a baby has three of the eighteenth chromosome. This results in 47 chromosomes instead of the normal 46 in the affected cells. It is this extra genetic material that causes the problems associated with Trisomy 18.
Trisomy 18 is also called Edwards syndrome (or Edward's syndrome) and occurs in about 1:3000 conceptions and 1:6000 live births, as 50% of those diagnosed prenatally with the condition will not survive the prenatal period. Unlike Down syndrome, Trisomy 18 is usually fatal, with most of the babies dying before birth and those who do make it to birth typically living only a few days. However, a small number of babies (<10%) live at least one year.
Most trisomies (about 95%) are full trisomies. That is, the extra chromosome occurs in every cell in the baby's body. This type of trisomy is not hereditary, and is not due to anything the parents did or did not do, and it is by far the most common type. In most literature, Trisomy 18 means full Trisomy 18.This disease has been described as “incompatible with life.”
Please don’t hesitate to ask us how we’re doing or to discuss our son’s current situation. Sometimes, talking about it is a big help. At this point, we cannot do anything but continuously pray for our son. Aside from our family, we also felt the need to inform our friends and work colleagues in order to avoid awkwardness, inform people about this disease, and more importantly, to ask for your prayers.
We hope that we get the chance to meet our son alive and for him to be baptized Raphael Roque Nuval Mance.
"Hush! My dear; lie still and slumber;Holy angels guard thy bed.Heavenly blessings without numberGently falling on thy head."- by Isaac Watts
