Friday, March 12, 2010

Freaking out - and back to feeling guilty

I am almost hyperventilating. My chest hurts and I can't stop crying. I think it is about time to go home.

Damn google anyway!

My last SHARE meeting I met another mother that lost her son at 18 weeks for unknown reasons. She has a history of HELLP and preterm labor and was diagnosed with MTHFR. She is getting her two children tested for spinal chord defects because one has a dimple and the other was born with a hairy lower back. We got to talking and we have a lot in common. My daughter also had the hairy back. We knew that was a very good indicator of spinal chord defects but she developed normally so we never thought about doing an MRI.

However, Aiden had SEVERE neural tube defects. He also had a chromosomal problem, but no one knows if the two were related. It's possible one was exacerbated by the other. Now it is very likely that I have some type of resistance to folic acid so the nurse at SHARE recommended that I get my daughter tested (an MRI to check her spinal chord) and get myself tested for MTHFR. MTHFR is a mutation that causes low levels of folic acid in tissues, which can cause the neural tube defects in fetuses, and high levels of homocysteine, which can cause clotting in the placenta and fetal death.

The low folic acid is an easy fix and I am already doing it. High levels of folic acid prior and during preganancy prevent the neural tube defects. However, if I also have the high homocysteine (I may not, neither placenta had clots) then things get way more complicated and higher risk. That treatment involves blood thinners throughout pregnancy and pretty high risk.

I made an appointment with the high risk specialist I like to get all this checked out. If it is going to be a super high risk pregnancy with all kinds of meds and monitoring, then adoption is looking more likely.

Here is where the soul crushing guilt comes back: All of Aiden's problems could have been from a mutation I have. I saw a few papers that attribute chromosomal problems like down syndrome with MTHFR. Oh my god - what if I did cause this???

I knew Kira was likely to have had a very mild defect. I can't remember if I was taking my prenatals consistently with Aiden, I don't think I was. What if this was my fault? I thought I had convinced myself there was nothing I could have done, what if I was wrong?

The good news is that this can be treated, the bad news is that this can be treated. I could have saved him. I could have made him okay and I didn't know.

There aren't enough curse words for this.


  1. Jen, You can't blame yourself!!!!
    Looking back and playing 'what-if' is just so not helpful... and we are all susceptible to it. There's no way of knowing whether Aiden's defects could have been prevented. And even if they could have, how would you have known?
    Please try to stop thinking this way. You've gone through so much already, and you deserve to have peace.
    I don't know anything about the defect you are talking about, but I HIGHLY doubt that taking folic acid would have prevented the chromosomal problems.
    I hope that you make that appointment with the risk specialist, and he/she tells you the same thing... that you did not do anything to deserve this!!!!

  2. i was going to say what Leslie said but she already said it.

    we all do the best we can with the information we have at the time. what else can we do?

    THIS IS NOT YOUR FAULT. promise.

    you did nothing to deserve this.

    hugs, honey. xxxx

  3. We can get through this together....I have had the same thoughts about Zach. What if I could have prevented this, what if I had pushed harder to be tested after Abby was born. Its hard not to try and blame yourself, its a very thin I cross daily. I'm here for you if you ever need to talk. Its true, we didn't do anything wrong...all the cards had not been dealt. My brain knows this but my heart just can't grasp it.

  4. Leslie,

    I have to do more research into it but I was reading that the MTHFR mutation causes an interuption in the biochemical process that supplies the methyl groups needed for DNA synthesis. Without these, errors in DNA replication can occur, such as the type of deletion Aiden had. I never would have thought trisomy could be caused by a vitamin deficiency, but there is a pretty strong link between down syndrome (trisomy 21) and the MTHFR gene mutation. There aren't any conclusive studies on non DS chromosomal abnomalities, but they haven't been ruled out either.

    I know I shouldn't blame myself but I did have some warning if I have this mutation. It kills me that no one (including me) picked up on it.

  5. if the medical professionals didn't pick up on it how could you have?

    this is shitty enough without blaming yourself. i mean, i know we all do. but there's no need to add things in that, on the balance on probabilities, you never could have known or guessed.

  6. I was diagnosed with MTHFR after Layla's spina bifida was discovered. Yes, the guilt is incredible. But more so I am angry that they only recommend the high doses of folic acid to those of us who have already had problems, especially since something like 50% of the population has some form of the mutation. If it had been the standard, my baby may have been fine.

    That said, don't worry about it until you get tested! And you really had no reason to test before now, so you absolutely can't blame yourself.

  7. There aren't enough curse words but, as everyone as already said, it wasn't your fault.

    You did the very best you could with the facts you had at the time. You couldn't have known. xo