Friday, October 25, 2013

A stroke of luck

I sometimes browse the internet late at night, and usually it is a colossal waste of time when I really should be sleeping...but occasionally, my random-going-nowhere fishing expeditions pay off rather well.

For example, there was that craaaaazy time that I randomly went to the yahoo donor sibling website, found a magazine article that talked about single moms who had used donor sperm, and randomly found somebody who had used my donor! I did also meet her in real life (also completely by chance). If you have not read that post of mine, you really should, because it makes you wonder if universal design is actually a thing...it makes a pretty strong case for it, for sure.

Two nights ago, I hit paydirt in a very different way. Right now, being the paranoid soul I am with my history of aneuploidy, I kind of wanted to get as many things crossed off the list as possible. The NT scan and the dual marker test have shown that the little one is unlikely to have a bunch of things (Trisomies 21,18,13, and Turners). Note that these tests have a 10-15% chance of missing out on these. 

Other autosomal trisomies end in miscarriage in the first trimester or will manifest with ultrasound abnormalities, so you don't have to worry about those so much.

The other things left are sex chromosome abnormalities (Klienfelters (XXY) and Triple X). These are much milder, so much so that they may not be caught till puberty or adulthood, and they cannot be caught on the ultrasound (although cystic hygromas are seen with Kleinfelters occasionally) or through the regular blood tests. 

Hence I've been looking out for companies that will test fetal DNA for these. I struck out with the ones I had found out about (BGI and Natera), and I was at square one. I then stumbled across this american company called Verinata that ran all the tests I wanted (13,18, 21, Turners, Kleinfelters, and Triple X). It was the middle of the night, India time. I was like, well, lets just call them and have them tell me, like every other company that I've spoken to, that they cannot test samples shipped from India.  I call, ask my question, they put me on hold, and transfer me to somebody who says yes, we ARE partnered with somebody in India, here is their number, call them and they will arrange  everything for you.  It was surreal. Nobody knows this company is in India: the person who works at the best fetal diagnostics center in India was aware of the other players, but not of these guys. The websites (of Verinata and the partner) do not provide this information. Heck, Google could not even make this connection! I just found out because I decided to make an international call in the middle of the night.

I next called the partner (Core Diagnostics), and if the next ultrasound on next Wednesday (it did not happen this week)  shows good things, then next Saturday, I will get blood drawn to get shipped off for this test that I so badly wanted to do, and which, if negative, will go a long way towards giving me some more peace of mind.

The only fly in the ointment is J's vitamin D results. She supplemented with 2000/4000 IU a day for a while before first trimester nausea hit with a vengeance, and when I checked like around 6 weeks ago, her levels were 20 ng/mL (sorta deficient). I made her take one sachet of the Vitamin D (it delivers a ginormous dose of 60,000 IU), and she swears she took it. I tested her again last week, and her levels have fallen to 14, despite some heavy supplementation.

Pregnancy is a bloody Vitamin D vacuum...you clearly need SO much in it. If somebody who supplements gets this deficient this fast, I would shudder to think how low the levels are in women who do not supplement at all, and the lifelong consequences it may have (for example, many studies show that if you are vitamin D deficient during pregnancy, your child has a higher risk for diabetes, among many other things). Diabetes and Insulin resistance is endemic in this country, and almost everybody is D deficient, far more so than in the west. I told J to take another sachet, stat. I'm sorry I waited this long to test her. Sigh.

But all in all, now, things are good. I feel terrified just to say the words though, like I may be tempting fate.

9 comments:

  1. I am so glad you found the new company; anything which can offer you some more comfort is a great thing. I hope that the new test results offer more peace and security. I hope that you can figure out J's vitamin D issues. You and I both know how important it is. Still sending you lots of love and good wishes!

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  2. I'm sorry but the lengths you are going to ensure nothing is wrong with this little PERSON is a little disturbing. It's your child, deal with it as it comes.

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  3. It's so telling so somebody's personality that when they say something like this that is negative, they don't have the guts to supply a name :)

    All such sound bites of "wisdom" from people too cowardly to leave a calling card will be rapidly deleted in the future.

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  4. M. , Jay' s friendOctober 27, 2013 at 8:54 AM

    You have NO idea how big was the pain or how many the shattered hopes in Jay's journey. Did it ever if occur to you that maybe she's not that scared she will end up with a kid less than perfect, but she is terrified at the thought she might still lose this precious little spark? That maybe she is trying to get herself prepared for EVERYTHING? Do you think that parents who are likely/worried to have a kid with genetic alterations should just sit still? No information? No precautions? No psychological preparation?
    I know Jay personally and I know part of her family. Rest assured, "anon", her kid will be loved and spoiled and educated way better than you are. As only an ignorant can post such an uneducated post.
    For future, before judging, make sure you understand what you judge.

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  5. Aww, M, thank you for that ringing endorsement :)

    Love you :)

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  6. If you think these precautions or preparations do anything except exhaust parents before the child is even here then you don't get it. The efforts towards preparing for a child should not be determining what is wrong with them. These are actions out of fear or something worse and they must be overcome, not defended by the likes of you. I hope you bring out the calm and the good in your friend for the future instead of just supporting irrational behavior.

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  7. Ahh, still to cowardly to provide a name I see :) You are not very logical: The first trimester work up and one simple blood test to screen fetal DNA is not "exhausting." Its one blood draw and one set of results and overwhelming relief if everything is well, which, would indeed be priceless.

    And the desire to find out if your child has trisomy 18/21/13, or Turners is not a witchhunt, it is a logical step undertaken by millions of responsible parents and medical practitioners the world over.

    I'm fairly sure from your ramblings that you have no idea of the ramifications of any of these issues: you have never seen or had to live with a child who has a Down's diagnosis, or a see a child born with Trisomy 18 or 13, who most often die shortly after birth, while putting the parent through hell.

    You also have no idea about what M mean when she said about preparation and preemptive action.

    I cannot fix or address such ignorance and shortsightedness. All I can do is block it, and that is what I will do now.

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  8. I am so far behind in my blog reading so just getting to this post...I am sorry you had to indure sure an ignorant commenter, Jay! Their judgement was completely unacceptable. They said your friend didn't get it but obviously they don't.
    Anyway, I hope you & baby are still doing well. Sending positive thought your way

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  9. Thanks Tiara...I think other people got more angry on my behalf than I did myself....I'm glad (and surprised) that she barely got to me. You can't fix stupidity or shortsightedness, and there is FAR too much of that around.

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