March is Trisomy awareness month!!
If you know me and/or have been following my blog, you know that my daughter Hailey Marie had Trisomy 18. You may also have a general understanding of the genetic disorder by knowing about Hailey's life and reading some of my other posts. So some of you are already a little aware of Trisomy 18! But this month I challenge you to become more aware and spread the word about Trisomy 18 and Hailey's life!
For this post I'm going to share some basic information about Trisomy, my experience with Trisomy 18, and some resources about Trisomy 18 and the other Trisomies.
About Trisomy
Trisomy refers to the presence of 3 copies of a chromosome instead of the normal 2. The presence of the 3rd chromosome interferes with normal growth and development. Three of the most common Trisomies are 13, 18, and 21 (there are other more rare forms of Trisomies that I will not get into). These are considered genetic disorders, and occur at conception. Some Trisomies are inherited from the mother or father, while others are not inherited at all but happen spontaneously. Generally speaking, as women get older their chances for conceiving a baby with Trisomy increases.
Trisomy 21 is the most well known Trisomy - it is Down's Syndrome. Trisomy 21 is not a lethal genetic disorder. Many Trisomy 21 babies go on to live very long and full lives although they may have mental and physical disabilities. Trisomy 21 occurs in approximately 1 out of every 800 to 1,000 babies.
Trisomy 13 is known as Patau's Syndrome. Trisomy 13 is a lethal genetic disorder, meaning it is not compatible with life. 80% of babies diagnosed with Trisomy 13 die in the first month. Statistics show that Trisomy 13 occurs in about 1 out of every 10,000 babies or even 1 out of 16,000 (depending on the source).
Trisomy 18 is known as Edward's Syndrome; it is the second most common form of Trisomy after Trisomy 21. Trisomy 18 is a lethal genetic disorder, meaning it is not compatible with life. 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 (again, 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.
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 face many abnormalities, many of which are not compatible with life like those found in Trisomy 13 and 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 treatments 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 negative and indicated Hailey was a healthy baby. 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.
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 (omphalocele), and apnea. In speaking of these abnormalities, Hailey is probably considered more blessed than most, as many Trisomy 18 babies also experience heart problems and problems with other organs; many also have cleft lips and rocker bottom feet.
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.
Besides all of the facts and statistics I have learned about Trisomy 18, Hailey's life taught me much more. If she had been diagnosed while in my womb, no one would have given her much of a chance at life. When she was born, the doctors were not hopeful for her suggesting she might go at any moment. Not many have hope for a life like Hailey's, but we did. While Trisomy 18 ultimately took her life, she lived a longer life than most would have expected and she lived a happier, fuller life than many could have imagined. While others may have labeled her abnormal, not normal, disabled, defective, and so on - she was none of these things to me; my definition of normal was redefined. While others may have seen her left arm and hand and skin tag and her tummy as ugly - she was not to me; my definition of beauty was redefined. Hailey's life was not a burden as some may think; her life was a blessing. Her life was beautiful, precious, and treasured. To read more about my thoughts on Hailey's life please read my post titled "Hailey's Purpose."
I do not believe in research for Trisomy 18 to understand the cause and find a cure. I believe God created Hailey the way He wanted her to be. I believe that this type of research would get into genetic engineering and 'playing God' type stuff which I do not believe in. Trisomy 18 is not a disease that can be cured; it is genetic and happens at conception. I do believe in awareness and raising support for families who have children with Trisomy 18. If diagnosed during prenatal care, families need education and support. Many doctors suggest and even encourage termination of the pregnancy when diagnosed prenatally. Therefore, families need all of the information and encouragement they can get. Whether families find out during pregnancy or after, they need the love and support of family and friends and other families who have experience with Trisomy 18. They need to be aware of those communities out there, whether it's online or a group in their town. They need information on how to care for a baby with Trisomy 18 (information about NICUs, Hospice Care, etc.). They need information on what other services and opportunities are available to them (ideas for making memories and having the best time possible with their baby). At some point they will also need help and resources dealing with the grieving process and infant loss so that their grief is healthy and they can find the joy in their sorrow.
Therefore, I personally am not considered with research to 'solve' Trisomy 18, I am believe in raising awareness so that families with babies who have Trisomy 18 have access to the love, support, and resources they need to make the most of the time with their precious Trisomy 18 babies. I also believe people who don't have experience with Trisomy 18 should know what it is.
Resources
Trisomy 18 Genetics Home Reference
Trisomy 18 Resources from SOFT
...more to be added later...I am planning on making this a separate page of my blog when I have time.
~In Honor of Trisomy Awareness Month and Hailey Marie, Please Share This Blog Post with Others~
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