Trisomy 18

Trisomy 18, Edward's Syndrome, is the second most common random genetic condition for babies. The first is trisomy 21, or Down Syndrome.

The issue occurs during meiosis, the first stage of creating life. An extra 18th chromosome is repeated. My daughter has full trisomy 18, which means that all the cells in her body contain that extra 18th chromosome. Partial and Mosaic T18 have only part of the cells with the 18th chromosome.

T18 affects the mid-line of the body, the severity varies with every child. Issues include malformations with the brain, lungs, heart, liver, digestion, kidneys, cleft palate, rocker bottom feet, turned in wrists, etc.

This condition is considered 'Incompatible with Life', and the majority of babies pass away before their first birthday.

I however, have been linked to a great number of parents/caregivers with T18 children who have surpassed the odds and lived longer. Like I mentioned before, the severity varies.

T18 children are considered 100% mentally retarded. I have found that a few of these children have learned to communicate, mostly through simple sign language. I've seen some who can play with toys, move things to their mouth, smile, giggle, and other simple motions.

T18 children are physically disabled, the majority of which remain in a wheelchair their entire life. However, I have found a few that can walk with assistance. I've seen T18 babies that can rollover, hold their head up, play notes on a piano.

The children with T18 are miracles. With the multiplicity of issues, it is amazing that some of these children thrive.

Parents can choose what medical interventions they want for their child. They can choose 'Full Code' which means they want to do everything in their power to sustain the life of their child, and want full medical treatment. Or DNR, do not resuscitate, sometimes called comfort care, though that term is different for everyone. Basically, DNR's mean that if the child has a major medical event, they should be allowed to pass away naturally. But in other cases, comfort care can mean that the parents do nothing, including not feeding the baby, or only feeding them small amounts. Each parent decides what they believe is best for their child.

What did you and your husband choose?

My husband and I choose Comfort Care. In this case, comfort care means that our daughter is home on an NG tube feed, oxygen and a pulse ox. Many parents choose to not have a pulse ox, we want to know when she is going to pass away and when she has heart attacks. (Yes, she has had heart attacks.) Some parents choose to not feed, we are feeding our tiny, and refuse to let her starve.


Do you plan to intervene medically? 

For minor complications, i.e. eye infections, we will treat her. For more major items, g-tube, heart surgery, trach or vent, we will not pursue these options. (I do not consider this decision to be heartless, I know several parents who will disagree. Our daughter cannot have heart surgery because of complications from pulmonary hypertension-basically, the large hole in her heart is both killing her and keeping her alive, and she codes (stops breathing) with even minor tests.)

Do you have a DNR (polst form) signed?

Yes. This is a medical legal form for do not resuscitate. At first, it was the most difficult document I have ever signed. But it is also a protection for our daughter so that she will not be autopsied. I value the sacredness of life, but will not promote the prolonging of suffering.

Your plan is to let your daughter die?

I have a firm belief in Heaven, and know that I will have the opportunity to be with my daughter again. I believe that the Lord will protect her life as long as she is meant to be on the Earth. Some T18 children have made it for years without repairing anything. Our choice is to let our daughter live a happy life, not in and out of hospitals, not poked and prodded at all times by doctors. I would not want to have a life full of multiple surgeries to from which to constantly recover.

I do not consider this to be 'letting my daughter die'. I consider this to be allowing my daughter to live, to feel sunlight on her face, to be cuddled, to go on car rides, hear music, be loved by her siblings, taste ice cream on her tongue. Each day we pick something new for her to experience and if the Lord decides to take her home to Heaven tonight then I will consider her life to be lived to the fullest. I will consider her mission to be complete, and I know that she will pass by the concourses of Angels entering into Heaven with a perfected body to accomplish any new mission in Heaven that she is given. I will expect the gift of her presence in my home to continue forevermore. Her spirit is more powerful than any I have ever experienced, it will live on, even after her life on Earth is complete. I love my daughter. Just as Heavenly Father loved his Son, enough to allow Him to be crucified and return to accomplish his mission in Heaven. I love my daughter, and will not intervene to prevent further her mission in Heaven. The Lord will sustain her life until her mission is complete on Earth.


What is it like hearing that your baby has T18?

From Amy:
I didn't want it to be true, but I was accepting of it. Sometimes I think it isn't fair to her, then I realize that she is so lucky to get to be in Heaven before me. I mourn, I cry, but I also plan for her days so that I can create more memories for my family.

From Andrew:
You will be torn, your thoughts and desires will go in so many directions, you won't know what to think. People will pressure you in all different directions--the do nothings, the do everythings, etc. Take time for yourself to decide the best path for your child. Trying to be attached, and trying to be ready to lose her at the same time will also tear you apart. You will be stretched mentally, physically, emotionally. Cuddle your newborn, love your family.