Tuesday, October 21, 2008

This is dedicated to my son...

Hello world. This blog is specifically dedicated to educating people on the genetic disorder called Trisomy 18. Please make sure to pass this on to anyone and everyone cause this disorder is not nearly spoken of enough.

Trisomy 18 is a genetic mutation of the 18th chromosome. Instead of the normal two chromosomes (one from mom, and one from dad), there is a third chromosome that forms. This disorder causes many congenital defects in the child and a severe to profound developmental delay. Children diagnosed with this disorder usually do not make it past a couple of months of age or they miscarry before their birth.

Now a little about me. I'm a 24 year old woman expecting my first child. I was thrilled and shocked to find out I was pregnant because I'm not married and I was definitely not trying to get pregnant. I'm one of those people who rolls with the punches, so I got over my initial emotions and focused on my baby. The father was excited at first, but the relationship wasn't working. He decided to leave me behind with his child. After some time, I got over to the fact that I was going to be a single mother and started looking forward to the future I was going to have. I moved home with my parents to get back on my feet, and they have been nothing short of amazing to me and my child.

My story truly begins on October 7, 2008. My local doctor had me get an ultrasound to check the anatomy of my baby. After 2 ultrasounds with my local doctor, they told me that my little pumpkin was measuring small and it was a concern for them. The doctor was supposed to come and talk to me, but she was unable to discuss anything with me. The office scheduled my appointment at Magee Women's Hospital for the next Tuesday so that I could have a Level II ultrasound. I asked my mother to go with me because I had concerns of my own and didn't want to go alone. She agreed.

That day, we drove to Pittsburgh and had lunch like it was a normal day. I signed in and waited patiently for my turn on the table. The ultrasound technician came in and went about her normal business. She didn't talk much the whole time. I was sitting there with my mother for over an hour before she said she needed to get the doctor to discuss some things with me. The doctor returned and started his screening.

After several painfully quiet minutes, the doctor looked at me and asked, "Why were you sent here today?" I responded by telling him the doctors at home told me my baby was small. He continued by saying, "Ok, well we have a number of concerns here. We're going to start at the top and work our way down."

He showed me my baby's brain and told me it wasn't developing properly. Next was the heart and showed me the hole in the two bottom chambers. His bowels came next and they are twisted. He then showed me his feet are clubbed and his hands are clenched. He then concluded with, "All of this put together leads us to believe that your child has a trisomy condition. I'm sure you've heard of Trisomy 21, which is Down Syndrome. This one is called Trisomy 18 which is like Down Syndrome, but it's much, much worse." Instantly, I turned to my mother and burst into tears. He told me that he was going to send me to the echocardiologist to look at my baby's heart to see how bad the hole in his heart was. Then, I was to meet with a genetic counseler to discuss what Trisomy 18 really was and what I was to do next. After that, I was going to go back to the ultrasound room to have an amniocentisis done to confirm the results.

The echocardiogram showed that there was a definite hole in the heart, but it was fixable. The genetic counselor informed me further about the disorder. She told me everything that I had listed in the first paragraph. Following that, I went for the amnio and was told that I would get the results in two days, but they would try to let me know sooner what the results were.

My mother and I left the hospital, shocked and angry about they whole day. I wondered who to blame, who to hate, what to do next. I knew I had to carry to term because I was 33 weeks. I knew I would never have gotten an abortion anyway because of my beliefs. I knew the baby shower was scheduled for that Saturday and I knew I had to inform everyone about what was going on. My mother and I called people for the rest of the week and let them know what was happening and I even wrote a blog on Myspace.

I decided to do this blog because it will be specifically about Trisomy 18, my experience and my newfound crusade to push for the education of this. I had no idea this disorder existed and I've taken child development courses throughout my education. So now, I've decided that this and all Trisomy disorders need to be in child development books and there needs to be better education for health professionals and parents alike so that people will know how to deal with this devastating diagnosis.

This blog is dedicated to Caleb Alex. I spent 8 months planning a future with him, and now I'm spending the last month of my pregnancy trying to make sense of everything that is going to happen now. This blog is dedicated to the mothers, fathers, grandparents, aunts, uncles, and siblings that have ever had to deal with this horrible diagnosis. Our children will not have suffered or died in vain.

5 comments:

Shawn Farner said...

If you ever need to talk, you know how to get in touch. :)

worldofhiglet said...

This is a powerful thing you are doing and I wish you, Caleb and your family the very best. It must have been a terrible shock for you and I am amazed you have turned that around to be so positive so quickly.

Earlier this year I had a scan at 11 weeks and was told the baby was gone, I had miscarried, and I found that fairly devastating. With help and support I have come to terms with it so I am glad to hear that your family is there for you.

Please do what you can to bring this to people's attention. I had no idea about Trisomy 18 and I consider myself pretty well read. And I hope it will give you some comfort to know that you are helping others, too.

Nothing is set in stone for you or Caleb so we can hope for the best. Thank you for sharing your experiences. May the road rise up to meet you.

Josh Bradley said...

We are praying for your family. www.trisomy18hope.org

Justin Kownacki said...

Wow. This is powerful stuff, and thank you for being brave enough to share your experiences. If more people would talk openly about the hurdles they encounter in life, I think everyone would have a better understanding of what we all go through, and how to deal with whatever adversities we meet.

Best wishes, and thanks again on behalf of everyone else who needs to know that they're not alone in their challenges -- which is all of us.

carla said...

Hey linds,
I wanted you to know you and Caleb are on the prayer lists and we are hoping for the best for you all. I have Lupus and a clotting disorder which cause me to miscarry 5 times by the time I was your age.
I dont know how I made it through I guess it was faith and a good support system. I found that nothing can happen to you that you cant make it through. I wish you peace and KNOW that nothing will ever happen to you that you cant get through. You are the voice for this baby growing inside of you and for the other families who must also walk a mile in your moccisans. May God bless you and Caleb Our prayers are with you