In the hospital they prick your childs body somewhere and then go and test the blood for genetic abnormalitites. It usually takes 4 weeks and you get a letter in the mail. Ours took 6 weeks and we got the results when we went to his pediatrician at the time, Doctor Scott. After checking him out and declaring him good, the doctor put his hand on my shoulder and told me that Luke had Trisomy 13 - which is fatal and said enjoy your time with him, he probably won't survive past 4 years old. I left not entirely sure that I had heard him correctly, all i could do was look at this sweet little boy so tiny and perfect try to absorb what the doctor had said. My husband kicked things into high gear and made sure that we got to see the genetisist in charge of the study the next day.
The head genetisist at our nearest children's hospital took a look at our boy and reviwed his results and said, "I don't know what to tell you. What Luke has we have NEVER seen before." The reason your results took so long is that the lab asked to redo the study and dig deeper with the FISH test (i don't know, don't ask). Here is the results as I understand them.... Think about your genes as books stacked in a pile on the on the floor in alphabetical order, in the center of the stacks is the "brain" of the gene which tells the "books" which order to be in. Luke's are all in order except for the bottom which was smudged and here is the kicker for me - they were all in order but there was no center, no brain. What does this translate to? While most Trisomy 13 children do not survive because their "books" do not communicate with the cells correctly so therefore organs don't get made correctly - organs like the heart, the lungs etc.. and this was probably the root cause of the dandy walker, however, no other organs were affected for Luke. Thus, the addition that Dr. Scott unintentionally left off, mosiac, Trisomy 13 mosiac, meant a miracle for our baby. The doctor couldn't tell me with any certainty, but he felt pretty sure that his life expectancy should be that of any other person. God is so good!
5 comments:
Hello,
I'm glad I found your blog. Just wanted to reach out and say hi, and welcome to the unique life trisomy brings.
Have you found the Living with trisomy 13 site on the internet?
http://www.livingwithtrisomy13.org
We have a few trisomy 13 mosaic stories and these two gals are very typical, along with many other t13 mosaic stories.
If you'd like to share your story of Luke we'd love to add him to the living album page.
http://livingwithtrisomy13.org/trisomy-13.htm
and we could also link to your blog.
Wishing you the best, blessings,
ThereseAnn mom to Natalia full trisomy 13 -7 yrs.
absolutely! Sign me up!
kym
FYI- I was diagnosed with Dandy Walker Syndrome when I was 8 years old. My little hometown doctor had no idea and diagnosed me early in childhood with adolescent migraines. When I was diagnosed, all the doctors I spoke with, were very pessimistic. Most saying I would not be able to finish school and if I was it would be a remedial school. However, I graduated with honors at the top of my class, graduated with a triple major 4 years later with a bachelors degree, and I will be starting my masters soon. Within this time I married the woman of my dreams and now have the most beautiful healthy little girl. I am not bragging on my self; however, I am bragging on my Lord! He is good, All the TIME!
I can't tell you how much your comment meant to me. i have forwarded it to my family and will print it for his therapists. I think he is so smart, not in the way that some kids are but he's doing so well and your note was such an encouragement.
I am the mother of a 3 year old son with DWV. These posting are so encouraging Thank you all so very much
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