Friday, April 7, 2017

More links on miscarriages/recurrent pregnancy loss/birth defects

https://www.ncbi.nlm.nih.gov/pubmed/8290380 (“Recurrent pregnancy loss as an indicator for increased risk of birth defects: a population-based case-control study”)

http://www.news-medical.net/health/Multifactorial-And-Polygenic-(Complex)-Genetic-Disorder.aspx(“Multifactorial And Polygenic (Complex) Genetic Disorder”)



http://www.fasebj.org/content/30/1_Supplement/151.6.long?related-urls=yes&legid=fasebj;30/1_Supplement/151.6 (“Maternal plasma folate, vitamin B12 levels and multivitamin supplementation during pregnancy and risk of Autism Spectrum Disorder in the Boston Birth Cohort”)

http://humrep.oxfordjournals.org/content/26/5/1259.full (“SYCP3 mutation may not be associated with recurrent miscarriage caused by aneuploidy”)

http://perspectivesinmedicine.cshlp.org/content/5/3/a023119.full (“Genetic Considerations in Recurrent Pregnancy Loss”)

http://humrep.oxfordjournals.org/content/17/2/446.full.pdf (“Cytogenic analysis of miscarriages from couples with recurrent miscarriage: a case-control study”)



http://spacefem.com/pregnant/mc.php?m=02&d=01&y=16 (“Daily odds of pregnancy miscarriage”)

Thursday, April 6, 2017

Association between family history of hernia and omphalocele?

I think I’ve mentioned in the past I had double-hernia surgery when I was just one month old.  Other women in my family (grandma, cousin) have also had hernias (and repair surgery).  So, for some reason, hernias run in our family.

Well, this article notes a baby with omphalocele and then notes that its dad and paternal grandma both had hernias:


“It will be interesting to know what the male sons of this boy will show from the standpoint of omphalocele and hernia in the future.”

Maybe there’s an association?

Wednesday, April 5, 2017

More links on omphalocele

General information:



Diagnosis:


Stories/outcomes:






http://www.rcst.or.th/ejournal/files/Vol31_No2_48.pdf (“Clinical Outcomes of Omphalocele:
An Analysis of 124 Patients”)

Decisions about termination:




Misc:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3809310/pdf/pjms-29-866.pdf (“Omphalomesenteric duct cyst in an omphalocele: A rare association”)

http://medicaljournal.in/2014/Volume2/Issue2/AMJI-02-web-case-report-giant-omphalocele-congenital-anomaly-containing-bowel-loops.pdf (A minor omphalocoele occurs when the defect is 4 cm or less (at birth), major or giant omphalocoele has 5 cm or larger defect.  It may include sac may contain small and large bowel, stomach, liver, spleen, urinary bladder, uterus and ovaries.  In some omphoceles, the sac ruptures.)



Tuesday, April 4, 2017

Questions after a diagnosis of omphalocele and treatment options

As previously discussed, after the diagnosis of omphalocele, understanding more about the omphalocele (and potential associated issues) is pretty important to knowing what your prognosis is going to be.  (http://3yearwait.blogspot.com/2016/04/looking-for-sliver-of-hope.html;http://3yearwait.blogspot.com/2016/04/omphalocele-outcomes.html;http://3yearwait.blogspot.com/2016/04/diagnosing-omphalocele.html)  Here is a list of questions I prepared for our follow-up ultrasound and genetic counselor session after our omphalocele diagnosis (which I never got a chance to ask because she had passed away by our follow-up appointment):

Genetic Testing Questions

What does CVS test for that could be the cause/association with omphalocele?
·       Trisomy 13/18/21
·       Trisomy 14, 15, 16, 17?
·       Beckman Weiderman Syndrome (11th Chromosome?)
·       What else?

How accurate is the CVS test?
·       Specifically for Beckman Weiderman Syndrome

When will we have results?

Omphalocele/Spine Questions

How big is the omphalocele?
What organs are in it?
·       Small / large bowel?
·       Stomach?
·       Liver?
·       Spleen?
·       Urinary bladder?
·       Uterus?
·       Ovaries?
Where is it located?
·       Above/below/at the umbilical cord?
Are there any other abnormalities?
·       Brain / head issues that suggest spina bifida?
·       Anything else wrong with the skeleton?  (Short / deformed limbs? Clubfoot?)
·       Heart abnormalities?  (Do we need fetal echocardiogram/other testing?)

Treatment options


This article goes into great detail about all of the treatment options:


(The authors even provide a flow chart! http://medcraveonline.com/JPNC/images/JPNC-01-00024-g001.png)

Thursday, March 30, 2017

Update

Hello cyberspace!  I wanted to give an update on how things have been going for us in the past year.  Cutting to the chase—things are good!

Obviously we were absolutely devastated when we lost our last (and final) pregnancy at 12 weeks.  Going through rounds and rounds and rounds (and rounds) of fertility treatments had brought us to our knees emotionally and, for me, physically.  (And let’s not start on the financial aspect.)  So we were pretty low around this time last year.  But you know what they say about hitting rock bottom—there’s nowhere to go but up!  And that was definitely true in our experience.

Throwing all of my meds and needles in the figurative garbage was absolutely exhilarating.  (In reality, I didn’t throw them away—I gave them to friends who were going through fertility treatments.)  But I went from taking dozens of supplements/pills/shots a day to absolutely nothing, and it was heavenly. 

I also realized, from my last pregnancy loss, that setting a fitness goal was a good way to give myself something to look forward to and to help me lose the weight—almost 10lbs, as I was basically on bed rest and stress eating for 3 months straight!  So I immediately signed up for a marathon that was happening right around my due date, and started training as soon as I was able to after my D&C.  (I’d missed the registration date, but was still able to sign up as a charity fundraiser—raising money for a local children’s hospital.)

It was HARD.  I’d spent about a decade of my life trying to have kids, and nurturing the one I managed to have, so my fitness was crap.  Although I’d gotten in shape after my last loss, I’d had a four-month slide of total inactivity during the pre-pregnancy, pregnancy, and D&C recovery period.  I felt like I was going to DIE on some of my early runs.  But I persevered, and ended up really enjoying the training.  And I raised almost $5,000 for charity (my friends and family, devastated for me, emptied their wallets).  Aaand I actually completed the marathon in a time much faster than I expected.  AND I enjoyed it so much I signed up for another one this fall!  In the process, I regained my sense of self that slowly had been slipping away.  I dedicated a significant amount of time to a goal, I achieved it, and it felt amazing.  I cried like a baby when I crossed the finish line—I cried with sadness for my lost child(ren)/vision of my life and I cried with happiness that I was through the other side and for the really great life I do have.

Also, through my marathon training I ended up losing all of the weight I gained during my pregnancy, AND then I lost all of the weight I gained during my 20s and 30s, and I got down to my freshman year of college weight!  (I was SKINNY.)  Since I’ve eased up on my training, I’ve put a couple pounds back on, and am now at a very healthy and happy weight, and enjoyed buying new clothes for my post-baby-making body.  Until I start training for my next marathon, I’m running, swimming, doing yoga, biking, and just generally having a great time keeping physically active. 

I also came to terms with the fact that we will never have another biological child.  That realization has been coming for a long time now, but we are absolutely done with all of the fertility shit.  (I will definitely consider throat punching anyone who suggests it still might just “happen naturally.”  No, it won’t.)  One big realization that I have had, though (and I actually had before we lost our last pregnancy), is that I don’t need another biological child.  I mean, I wanted one, sure, but my life can be complete with just the one little kiddo I have.  And, to the extent that I feel like my family is incomplete, there are other ways to build a family. 

Before my son was born, I liked the idea of being pregnant (overrated), breast feeding (overrated), and all of the experiences surrounding creating a child (in hindsight, all overrated).  I also liked the idea of raising a little me/my husband combo.  Ha!  Having a child has shown me that children are not just tiny versions of their parents.  They are themselves, and this biological connection is pretty tenuous, at best.  I also really wanted to have a brand spankin’ new baby to take home.  But as cute as they are, man they are a lot of work! 

So, where does this leave me?  IF, in a few years (biology is no longer my enemy), I feel like my husband and I have more love to give/our family is incomplete, we would consider adoption.  But not adopting a baby—it feels like there are so many parents dying to adopt babies, I would feel like I was stealing someone else’s child.  Instead, we would focus on adopting a kid who really needs a family—an older child who is in foster care.  That’s a little scary—bringing what could be a significant amount of trauma into a family.  But then, I think, if not me, who?  It’s hard to think about doing it now, as our guy is still so little and our jobs are still so busy; it feels like it’s not a good time.  But when the little man is older, and our lives are a little calmer (will that ever happen?), we will revisit.  So I’m not saying I’ll never have another child, just not now, just not a baby, and just not one I grew.

We’re never going to have another baby.  That realization has been pretty freeing; it’s allowed us to move on.  We’ve sold / given away most of our baby stuff.  (I’m allowing myself a box of my favorite clothes—many of which I made—in case we ever have a grandchild….  That seems crazy to think about now!!)  And we redecorated the “nursery” into a guest room.

My marriage is also great.  There were definitely some very low points through this journey, but I think both my husband and I agree that what we have been through together has brought us closer and made us more gentle and compassionate with each other and ourselves.

My little guy is also amazing.  Although he’s not so little now—he starts kindergarten this fall!  I regret that our fertility journey took me away from him at times (both physically and emotionally), but I can’t go back and change that.  All I can do is be the best mom for him I can be now. 

I’ve been through a lot.  My thirties were a bit of a shit show.  My life did not end up exactly as I expected, and I didn’t get exactly what I wanted.  (But who’s has and who does?)  I do have a great husband and a great kid.  And if you’d told me the day that I started my two week wait that’s how my story was going to end, I’d have cried tears of joy.

So that’s my update.  Thanks again to all of you who laughed/cried/cheered/mourned with me.  I imagine I’ll do updates from time to time, so standby.  At least for the next week or so I’ll do mini-posts on issues I looked into but never got a chance to write about.  

P.S.  If you found this page searching for answers or comfort while in the midst of fertility treatments, best of luck!  It may seem dark now, but things have a way of working out.