Trisomy 18 Awareness Day

Today is Trisomy 18 Awareness Day. Trisomy 18 changed my life. I'd like to tell you a little bit about it.

It's my goal, in having a daughter who had Trisomy 18, to raise awareness, not to find a cure, but to educate others about what it is, what we went through/ what families go through, and to encourage you to support those dealing with Trisomy 18.

Trisomy 18 is known as Edward’s Syndrome; it is the second most common form of Trisomy after Trisomy 21, the most famous of Trisomies which is Down's Syndrome. Trisomy 18 is a lethal genetic disorder, meaning it is not compatible with life; it is fatal. Trisomy 18 is three times more common in girls than boys. Trisomy 18 occurs in about 1 out of every 3,000 babies or even 1 out of every 6,000 (depending on your source). 50% of babies with Trisomy 18 that make it to term will be stillborn. Less than 10% of babies born with Trisomy 18 make it to their first birthday.

Trisomy can come in the form of full, partial, or mosaic.

Full Trisomy means the 3rd copy of the chromosome occurs in every single cell of the body. This type of Trisomy is not inherited and is the most common. It is completely 'spontaenous.'  This is the kind Hailey had.

Partial Trisomy means there is only a part of the 3rd copy of the chromosome present in the cells of the body. This form tends to be very rare and could be hereditary.

Mosaic Trisomy means the 3rd copy of the chromosome occurs in some cells in the body. This form is also very rare and is not inherited.

Trisomy babies often have many abnormalities, many of which are not compatible with life like those found in Trisomy 18. No two babies with a Trisomy are identical – not every baby faces the same abnormalities as another. Some may have a large number of abnormalities while others only a few.

Trisomies can be diagnosed prenatally and vary case by case. There is no cure.

My Experience with Trisomy 18

My prenatal screening to detect whether Hailey had a Trisomy was incorrect. The screening was consisted of two parts, one which was positive, the other which was negative; together these indicated Hailey was a healthy baby. Hailey had no other abnormalities that were detected via ultrasound. A few days after Hailey was born, she was diagnosed with full Trisomy 18 through the use of a FISH test. Hailey lived to be 1 month and 5 days old. Unlike many babies with Trisomy 18, she was able to get out of the NICU and come home with us.

Typically, parents who are older than 35 and those who have other risk factors are more likely to conceive a baby with Trisomy 18; however, this is not always the case, as was our case. We were young, healthy, and our pregnancy with Hailey had a zero risk factor. Anyone can have a baby with Trisomy 18.

Hailey was much more like a  "normal" baby than others with Trisomy 18, which is possibly why it took so long for her to be diagnosed. She did not have any of the most common 'symptoms' such as a cleft palate or experience any serious problems with her internal organs. Here are most of the affects of Trisomy 18 on Hailey (that we were aware of): Hailey’s left hand and wrist did not develop correctly, but she could use it. She had long fingers, usually clenched fists, small facial features, low set ears, a skin tag on her face, webbing on her neck and a few other parts of her body, part of her intestines on the outside of her body (gastroschisis), and apnea.

To learn more about our experience with Hailey and her Trisomy 18 please read my other posts – you probably want to try any of the posts categorized as “Trisomy 18″ first.

Here are some links you might consider reading or sharing:

Trisomy 18 Wikipedia

99 Balloons

Trisomy 18 Foundation

Trisomy 18 Hope

Most importantly, please know that Hailey, and other Trisomy 18 babies, deserve as much a chance at life as any other baby and are just as wonderful. However, because the difficulty lies in the stresses associated with their care and their deaths, families who have babies with Trisomy 18 need lots of encouragement, love, and support. If you know someone expecting a baby diagnosed with Trisomy 18, the best way you can help them is to research Trisomy 18 and be there to support them.