Thursday, January 20, 2011

Chromosome Count

I wanted to share with you all a bit more good news we received last night. The doctor called with the full and final results of the amniocentesis, which showed no abnormalities with baby's chromosomes. This is great news, which leaves us optimistic, though cautiously so. The doctor explained that while it is good for baby's prognosis that the chromosomes are normal, it does leave the doctors without explanation or a "road map" for what to expect with his condition. So we'll just have to continue taking this one step at a time. The next step is another ultrasound on February 17 in which they will take a closer look at baby's anatomy, and a cardiologist will examine his heart.

For the moment, we are just grateful for the news we have received, and we will, of course, continue to pray for God's healing of our son - for his heart and abdomen in particular. Also, as many of you know, it is easy in situations like this to become fearful and anxious. Please pray that Joe and I will continue to feel at peace. A thousand thanks could never express how grateful I am for every prayer said on our behalf!

And now, an instructional sidenote....I included a diagram of what a normal chromosome count looks like. Through this experience I've received a refresher course on the matter, and it's actually quite interesting. Healthy babies have 23 pairs of chromosomes; one chromosome in each pair is from the father, and one is from the mother. Trisomy 13, 18 and 21 are the more serious chromosome abnormalities that doctors ruled out last week. Trisomy 13 and 18 are typically fatal, and Trisomy 21 is more commonly known as Down Syndrome. These all develop in a baby when there is an extra chromosome of that particular number. Other abnormalities, like Beckwith-Wiedemann Syndrome, develop in a baby when chromosomes are formed improperly. That is what doctors ruled out last night. Interesting huh? Who knew blogs could be both fun and educational!

1 comment:

  1. Hello just wanted to comment when I saw this entry in my google alert for Trisomy 13. The information presented to you or you found through research, on Trisomy 13 was MISinformation. Families who have children who are living try very hard to inform those who pass on this misinformation. Trisomy 13 and 18 are not always fatal. :) Thats the good news. My child is now 10 yrs old. Yes, they will have mental delays and medical issues but for the most part my child at 10 years is very healthy.
    you can view more survivors living with trisomy 13 on this page.
    http://www.livingwithtrisomy13.org/content.php/191-Living-trisomy-13-album

    Facebook has many Trisomy Commuities of survivors
    http://www.facebook.com/group.php?gid=242657113535&ref=ts

    http://www.facebook.com/group.php?gid=389097626531&ref=ts

    So for anyone coming to your blog, there is realistic hope that you can carry a trisomy 13/18 child to term, love them unconditionally and make the decisions best for you and your family. Sadly the medical text and iniformation is a bit outdated with the advances in medicine and the global internet and the support that families have created.

    I share this with you as often women are told there is no hope or reason to carry a child with trisomy 13/18 to term if they are to die anyhow.
    Well, they dont always die, and there is so much support now that I dont think you'd find someone who carried to term who regrets loving and holding their child.

    We even have families who have adopted these precious children.
    Read Joey's story here. http://www.livingwithtrisomy13.org/entry.php/90-Joey-Lane-Huddleston-Reite-Born-March-6-2007-Georgetown-CA-Full-trisomy-13

    Hope I've helped enlighten you a bit on Trisomy :)

    ReplyDelete

May 2020

First bike ride of the year! And George's first time without training wheels! Such a champ! Enjoyed lots of bike rides during quarantine...