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Avatar universal

keep praying

Not much more info today. It is in fact a supernumerary marker chromosome, which means all 46 are there in every cell, but there is also extra chromosomal material in very cell. They are currently trying to identify this extra genetic material (a duplicate part of a chromosome). There is no guarantee that they will find the source. Unfortunately, chromosomes 15 and 22 are most likely to be associated with duplicating this extra free floating genetic material and lead to severe retardation and numerous physical disabilities.

There is a small hope that I might also show this same anomaly in my cellular make-up where the karyotype is abnormal but not expressed. Ironically my prayers are that I somehow carry this genetic anomaly since that would mean the baby has a better chance of not expressing the error. They are currently running a chromosomal blood analysis on me which will take about a week to determine if this is a possibility.

The fact is one of the chromosomes duplicated extra genetic material-- working from my baby's amniotic fluid they are currently trying to isolate which chromosome and where in it's complex double helix structure it originated. There are very few cases worldwide for each of these abnormalities. But based on their findings they will then try to tell me from other case study presentations what I might be facing. This is going to be a very difficult week.

Thank you for your continuing prayers, I feel beyond hope, why my little family?

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Avatar universal
Unfortunately there is nothing to retest, they are working directly with the baby's genetic material. Now it's simply a question of which piece of genetic material it is and from which chromosome it originated.

Thank you all for you prayers.
Helpful - 0
161782 tn?1201217932
So sorry you're having to go through this.  I can't imagine.  I'll keep you and your family in my thoughts and prayers.

One question though - has your doctor discussed re-testing?  Again, I can't imagine being in your shoes but I might want a second opinion...

Please take care of yourself.
Helpful - 0
254689 tn?1251180040
I'm so sorry to hear this news - I too will keep praying for your 'little family' that you find peace and comfort and some good news.  I wish I knew the answer as to why this is happening to your family but we'll all do our best to support you. Please keep updating us.  
Helpful - 0
Avatar universal
Please try your best to keep strong and positive.  I know that is better said then done, and the worry will be there anyway.  We are all with you anytime you need to just let it out this week, or until you get answers.  I can't imagine the different feelings that you are experiencing and wish I could take them all away for you.  Know that you are in my thoughts and prayers, and waiting for updates as you receive them. Try also to not stay on the internet reading about all the possiblities.  It is good that you want to be educated, but too much can be a bad thing.  Take care

Carolyn
Helpful - 0
304653 tn?1217001302
I will keep praying for little Lukas... You get some rest, you have to be on fumes!! I cant even imagin what your going thru..  The wait is just so upsetting. We are here for you no matter what. Im praying for you and your little angel. Stay Strong
Helpful - 0
304653 tn?1217001302
I will keep praying for little Lukas... You get some rest, you have to be on fumes!! I cant even imagin what your going thru..  The wait is just so upsetting. We are here for you no matter what. Im praying for you and your little angel. Stay Strong
Helpful - 0
Avatar universal
Your "little family" will be in my prayers.
Helpful - 0
208686 tn?1293030503
I can only imagine what you must be going through right now! I will continue to hold you and your family in my prayers and I will say one throughout the day as well. I know we can never pray too much! I hope they figure out what is going on and why this is all coming about! I don't know much about this situation but if you ever want to cry vent b itch or anything else, don't hesitate to send me a message!!

((Big Hugs))
Patty
Helpful - 0
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