In fact, about 70% of miscarriages in the first trimester are thought to be the result of chromosomal abnormalities. http://www.pregnancy-info.net/chromosomal_abnormalities.html
Did you know that 90% don't have the chance to make it, because someone makes the choice for them?
About 90 percent of pregnant women who are given a Down syndrome diagnosis have chosen to have an abortion. http://www.nytimes.com/2007/05/09/us/09down.html
Did you know that there are kids in other countries who don't know a mother's love or a father's security, because someone views them as imperfect? Their eyes will call to you. They are calling me.
We met with a Geneticist at Penn State Hershey Medical Center. When it was recommended to us months ago, I felt like I wasn't ready for it. What if I had to sit in a room with someone who told me every worst case scenario, was negative, and devalued my child? Could I handle it? At the time, I didn't feel like I could.
But, now, I felt like we were ready. It wouldn't have mattered what they said, we would come back to what we know. Kamdyn has a world of opportunity before her. She is amazing, and she will do amazing things with her life.
Brad and I sat as the doctor, a counselor and nursing student, who was observing, came into the room and sat down. The doctor asked us what we hoped to accomplish through our visit. We told him that we just wanted to learn more about Down syndrome and be aware of whatever screening or testing she needs to keep up with every year. Kamdyn lay relaxed in my arms as the doctor began to talk with us. She has no idea that all of this is about her. I'm sure she'll eat up all the attention from these appointments one day. But as the doctor was talking, Kamdyn saw the toy attached to the wall right next to us. She began to squirm and flex her muscles until she was halfway up. When I realized that she was trying to sit up, I helped her the rest of the way. After she was sitting up on my lap, she lunged forward and grabbed that toy in front of her. They would go on and on later, about how good it was for her to do that. Since most of their examination is done through observation, those types of reactions are exactly what they are looking for.
After we talked, the doctor took Kamdyn and laid her on the exam table. He listened to her heart, which has a very loud murmur. He felt her head and behind her ears, like doctors always do. He moved down her body and took both of her legs around her ankles, moving them up and down, back and forth. He mentioned that her hip joints felt ok, but her muscle tone in her legs was very weak. So he moved them back and forth, trying to get her to push back against him. It took several times, but eventually, she did push back. But at this point, our calm, easy going, bugaboo, was not enjoying this examination. She started to cry. As he continued to move her around and move her arms and legs, her cry reached it's peak, then steadied out to a low steady cry. Baby was not happy. Tears rolled down her face and then into her hair. We stepped closer to try to give comfort, and Brad started to reach his hand. Jokingly, but serious at the same time, the doctor said, "Back up, dad. We're ok here." Of course, the doctor wasn't hurting her. But the exam was not pleasant for her. When he was done, he explained to us that he wanted to see if she would just lay there unscathed and unbothered to what was going on, or if she would express her dislike verbally. Well, I guess baby girl passed, because she was not a happy baby. Once we picked her up and snuggled her close, all was well.
Of course, it wouldn't have mattered one way or the other how she reacted. But they are just observing where she is at and what she does.
After the doctor left, we sat down with the counselor, who showed us a picture of the different scenarios of chromosome arrangements in a Downs person.
Kamdyn has this one:
When a baby is conceived, they receive one chromosome from each parent, adding up to 46 total. Either the sperm or egg, however, had an extra 21st chromosome along with it when it joined with the other. So when they joined up, there were 3 of the 21st chromosome, resulting in Down syndrome. So Kamdyn has 47 chromosomes, a magic one, a little extra love, and designer genes.
There are other scenarios that are possible, but Kamdyn's karyotype showed this formation.
The counselor went through her packets of resources for us to read and we asked any questions that came to our mind. One thing that had been on our minds was how we should handle telling our other children and Kamdyn about Down syndrome. We wondered if Kamdyn would know she has Down syndrome, if she would feel different, and if this would cause her any depression. Her advice was to just tell them as questions come up. Satisfy their question with an answer. When they want to know more, they will come and ask more. As for Kamdyn knowing she is different, she said she will probably know that she is different, but if we provide her with love and security, she will thrive. It's just like any other child. If they are secure and loved in their family, they will have confidence. So that's the goal.
And we came out of our two hour appointment feeling encouraged. They reiterated everything that we knew. Which is really that we don't know what Kamdyn will do, but she will show us. She could have any health problem that any other could have. So basically, just treat her like all of our other children, and she will develop and flourish. She will be as secure and confident as we encourage her to be.
In a nut shell, that was our trip to the Geneticist. The doctor left us and told us that we can follow up however we want, every 6 months, once a year, every 4 years, never. It is up to us. So we decided that we will go back once a year, have her seen by a doctor who works with Down syndrome patients everyday, and let them keep track of her development.
But the real fun was after, when we headed to Hershey Park's Chocolate World Tour. Pictures of that to come.
She is gorgeous!
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