The big day!

Yesterday Monte and I went in to meet with Dr. Cox. We got the test results back that Lincoln has Trisomy 18.  We asked the doctor a million questions about what to do now and where we should be headed.  Monte and I came out of our meeting feeling pretty good.

Here is what Trisomy 18 is:

Trisomy 18, also known as Edwards syndrome, is a condition which is caused by a chromosomal defect. It occurs in about 1 out of every 3000 live births.  The numbers increase significantly when early pregnancy losses are factored in that occur in the 2nd and 3rd trimesters of pregnancy. 

Unlike Down syndrome, which also is caused by a chromosomal defect, the developmental issues caused by Trisomy 18 are associated with medical complications that are more potentially life-threatening in the early months and years of life. 50% of babies who are carried to term will be stillborn, with baby boys having higher stillbirth rate than baby girls.

What causes Trisomy 18?
At conception, 23 chromosomes from the father and 23 chromosomes from the mother combine to create a baby with a set of 46 chromosomes in each cell. A trisomy occurs when a baby has three #18 chromosomes instead of the normal two. This is something that happens at conception. And although many parents worry about this, it is important to know that parents have done nothing before or during pregnancy to cause this disorder in their child. 

What are the characteristics of Trisomy 18?The genetic material from the extra eighteenth chromosome can cause a variety of problems with varying severity. Just as children with Down syndrome can range from mildly to severely affected, the same is true for children with Trisomy 18. This means that there is no hard and fast rule about what Trisomy 18 will mean for your child. However, statistics show that there is a high mortality rate for children with Trisomy 18 before or shortly after birth.
Typical characteristics of Trisomy 18 include:

• Heart defects:
  • VSD (Ventricular Septal Defect): a hole between the lower chambers
  • ASD (Atrial Septal Defect): a hole between the upper chambers
  • Coarctation of the aorta: a narrowing of the exit vessel from the heart
• Kidney problems
• Part of the intestinal tract is outside the stomach (omphalocele)
• The esophagus doesn’t connect to the stomach (esophageal artesia)
• Excess amniotic fluid (polyhydramnios)
• Clenched hands
• Pocket of fluid on the brain (choroid plexus cysts)
• Rocker bottom feet
• Delayed growth
• Small jaw (mycrognathia)
• Small head (microcephaly)
• Low-set ears
• Strawberry-shaped head
• Severe developmental delays
• Umbilical or inguinal hernia

The bold one are what Lincoln has plus he has spina bifida and a club foot

Hopefully the above will help you understand Trisomy 18 a little better. I encourage those that are reading this to do a little research yourself. There are lots of support groups out there for parents and families of Trisomy babies.

Monte and I feel very blessed to have Lincoln in our lives.  We don't really know what to do next, we know we have to plan for his arrival at any time and we also need to plan a funeral neither of which will be an easy task.