Wednesday, July 8, 2009

What You Need To Know

I have absolutely nothing new to post today, so I thought I would do a PSA on Trisomy 18. It interests me, and it may or may not interest you. Please keep in mind that I am not a physician(sometimes I think I am just because I work for one), or a geneticist. The little knowledge that I have only comes from the vast amount of time I have invested on the Internet and talking with others who have been through this same thing. If you are reading because you are going through the same thing, please know that hope is always there, and that much love and support is available. If you know us in the real world, please know that we are grateful for your thoughts, prayers, and love. We couldn't do this journey without any of ya'll, real or cyberspace, or without our Lord.

  1. T18 is a congenital(from conception), genetic(having to do with the genes) disorder in which the person affected has 3 copies of the 18th chromosome, instead of the standard 2 copies.
  2. There are 3 types of T 18: Full, Mosiac, and Translocated. Full T18, which occurs about 95% of the time, means every cell in the body has 3 copies of the 18th chromosome. Johanna naturally has Full T18. Mosiac T18, which occurs about in less than 5% of the cases, means that only a portion of the bodies cells are affected. Mosaic T18 babies/kids generally have a much longer life span than those with Full T18. And finally there is Translocated T18. Translocation is the most rare, and the best case scenario. With Translocation the third copy of the 18th chromosome attaches at the end of 1 of the existing normal chromosomes. Are you good and confused yet?
  3. T18 is considered "incompatible with life". And while it generally is, this is a hard thing for a parent to hear.
  4. T18 has certain physical features. Low set ears, strawberry shaped head(Strawberry Short Cake), cleft lip/palate, drawn arms and legs, webbed fingers and toes, and generally smaller in size.
  5. T18 severely impacts physical and mental functions. In other words T18 is a profound disability.
  6. Most babies, greater that 90%, will die before their 1st B-Day.
  7. T18 is stressful on everyone involved. It's stressful on the parents, their relationship with each other, the siblings, the grandparents, the friends and coworkers, the acquaintances, and I'm sure on the MD's caring for the Mom and baby.
  8. There is no treatment for T18. Comfort care and health management are about the only options available.
  9. T18 occurs in about 1 in every 6,000 - 8,000 live births. Of course this statistic does not include the infants that are still born prior to term, and the early miscarriages. I haven't really been able to figure out how common or uncommon T18 actually is.
  10. The pregnancy is essentially the same as with pregnancy of a chromosomally normal child. Of course the emotions are heightened, but that's to be expected I would think.
  11. There are severe organelle defects associated with T18, especially with the heart and kidneys.

Please believe me when I say that I realize and understand that these are disheartening facts and statistics. However, also believe me when I say that Johanna, and all babies with T18, and all babies in general, are "fearfully and wonderfully made". She is exactly how God wants her to be. It's quite obviously not what I would have chosen the day that I found out I was pregnant. But, it is what God chose for me. Chad and I are trying to make the best of it. We're trying to be informed, realistic, and hopeful all at the same time. It's a lot, but that's OK. I just wanted to share what I've learned with ya'll. Maybe it will help someone else sometime.

13 For thou hast possessed my reins: thou hast covered me in my mother's womb. 14 I will praise thee; for I am fearfully and wonderfully made: marvellous are thy works; and that my soul knoweth right well. 15 My substance was not hid from thee, when I was made in secret, and curiously wrought in the lowest parts of the earth. 16 Thine eyes did see my substance, yet being unperfect; and in thy book all my members were written, which in continuance were fashioned, when as yet there was none of them. 17 How precious also are thy thoughts unto me, O God! how great is the sum of them! 18 If I should count them, they are more in number than the sand: when I awake, I am still with thee. Psalm 139:13-18

3 comments:

Stay at Home Mommy said...

your faith and trust in the Lord is such a blessing to me. it makes me appreciate my blessings, children, and trials in a new way. It takes a very special person to have a t18 baby, and that is why God chose you. Johannah is so blessed.

momof4 said...

I have been following your blog for a little while. You and your family are in my prayers. I have not been in your shoes exsactly, but very close. My son had trisomy 13, but it was undetected prenatially. We found out when he was 2 days old. His story is here. http://www.livingwithtrisomy13.org/memoriesofdaniel.htm I do not know if you have meet this family there daughter Zoe was born on March 22, 2008 and is still with then there web site is http://batiansila.blogspot.com/

momma said...

those are some of my favorite verses. i've been a follower for a while, but i usually don't comment (shame on me). you and your family are in my daily prayers!