Anastasia Has the Answers

Right before Q and I got married ten years ago, we realized I might have reproductive issues but I never could have imagined just how hard family-building would be.  I'm very thankful to have our happy ending here in my arms.  My family is now as complete as it's going to get, but I'll always wonder why it all happened this way.

Why did everything go so perfectly for Anastasia but not for Jeremiah and Miles?  What made the difference?   I wish I could know why, not only for myself but also for other women like me and for my children, in case there is some risk for them when they start having children of their own.  Was it a lucky combination of genes?  Was it the aspirin and pig intestinal mucous I injected into myself?  Did the fistful of supplements I took daily help?  Anastasia has the answers, but she's not talking.

Last week I was able to see the pathology report on Anastasia's placenta and cord.  According to the pathologist, everything looked absolutely normal.  I'd have to fill out some paperwork and pay a ridiculous fee in order to get a copy of the report for myself, so I don't have it to post on the blog.  Maybe I'll get to it later, but for now I spend too much of my limited free time trying to get United Hell Care to pay up on all the medical bills.  Instead, you can enjoy these lovely photos of the placenta.  Or if you'd prefer to skip that, you can enjoy these lovely photos of Anastasia instead:

One month old

Return to Pooh Corner 

Our family tradition is to take photos of our babies with these stuffed toys each month until the baby is one.  It's a great way to see how quickly they grow.  Pooh, Tigger, and Eeyore had been unemployed and collecting dust for years during our family downturn. What a joy it is to see them back at work with our new baby girl!

The Reign of Terror

Fourteen weeks along today and baby is still alive.  Today's ultrasound was another quick one done with the little bedside machine, which produces VERY poor quality images.  Basically all we could see for sure was that baby has a head, a body, a beating heart, and some limbs.  The baby did move it's head during the ultrasound, but certainly was not kicking around like it was the last few times.  It's hard not to worry about this, even though I tell myself that we only get to look for maybe a minute each week and such variations in activity level are perfectly normal and to be expected. 

Two more weeks until the very detailed ultrasound.  Will we make it that far?  It's been nice to at least get a little peek at baby each week and know that the heart is still beating, but on these ultrasounds there's no way to see any details of smaller structures, such as THE CORD, which as you may imagine I am absolutely obsessed about.  We could barely make out the cord for a couple of seconds today (see below) and although the picture is very bad, I did not like what I saw of the cord located between baby's face and leg because to me it looked like this: / / / / / /   Six parallel sections bunched up next to each other.  Is this normal?  Is there hypercoiling again?  Am I just trying too desperately to see some clue about my baby's fate?

Told you the image was bad.  Of course it's much worse here than it was on the screen at the clinic.  These are both the same picture, one left as is so you can get a clearer picture (ha!) and one with parts labeled by me.

We still haven't told anyone but family that I'm even pregnant.  Mostly, this is because we don't want the kids to know yet and there's no way to keep it from them if other people around them know.  My daughter did tell me that I look chubby.  My son told me he can't train me to be a Jedi because I'm too fat.  I don't know how much longer we can keep it secret.  I just don't want them getting all excited about that prospect of a baby (and they WILL be excited!!) only to have the same thing happen again.

The other reason for not announcing the pregnancy is that I don't want to hear any gushing from people who have no idea what hell we've been through - "How wonderful that you're "expecting"!" and "Nothing bad could possibly happen now that the first trimester is past!".  It's hard enough to keep my own "expectations" in check.  I'm not ready to deal with the expectations of others.  For me so far the odds have been 50/50.  Two kids lived.  Two died because of malformed umbilical cords.  I had really hoped the odds would be more in our favor this time around with the Lovenox and high-risk care, but I am now convinced it is still 50/50 no matter what we do.  Actually the odds at this point are much nearer either 0 or 100 percent as the baby's fate is probably already decided and there's nothing anyone can do about it.  The cord is formed - will it give life or take it away?  Perhaps it was all decided on November 18 when this child was conceived.  We just have to wait to find out whether there is any hope for our baby, and the waiting is pure torture.

I've recently been in contact with two women, Cindy and Wendy, who have lost babies at the same time and in the same manner as I have.  Perhaps they will share their experiences in more detail later, but for now here are the basic facts:  The odds for all of us have been 50/50, and that's not counting early miscarriages.  Cindy had four babies live and four die of cord problems.  Just like me, she was told to use heparin for each pregnancy after the second loss, but the odds remained the same - 50/50.  Wendy had two babies live and two die of cord problems, with the second loss happening just weeks ago and only eight months after the first loss.  All three of us first had two successful pregnancies followed by multiple losses.  Together we have eight living children and eight dead children, four girls and four boys who all died in the fifth month of pregnancy.  

All I can think after comparing our stories is that it must be genetic after all.  As I'd postulated in an earlier post, perhaps most cases are caused by a random genetic mutation and therefore very unlikely to recur.  But suppose a baby survives despite having a usually deadly genetic mutation that causes malformed cords?  That baby would grow up and have kids - then his random mutation gets passed on to his offspring as an inherited mutation.  This is what happens in genetic disorders with an autosomal dominant inheritance pattern.  50/50 odds.  

And so the reign of terror continues . . . two more weeks until we may get a clue which way it will go this time.  Will we finally get to dust off the cradle?  Of will it be another grave?  And how could I possibly go on if it is the latter?

Genetics: Looking for Clues in This and Other Cases

Certainly no genetic cause for fatal umbilical cord abnormalies has been found. That may be because there isn't one. Or it may be because so very little research has been done. The question is whether the genetic code responsible for the formation and development of the umbilical cord is itself flawed, or whether the genetic code is fine but the instructions can't be carried out properly because of other unknown factors.

The first two case studies we've looked at previously offer little information. The karyotypes (a test to identify and evaluate the size, shape, and number of chromosomes in a sample of cells) of the babies are normal, except one baby with a deletion in 3 out of 15 cells tested, which is not thought to be significant in this case.

The mother who lost 4 out of 8 babies to cord torsion said there is no family history of such problems and no abnormalities were discovered on karyotypes of the lost babies.

In my own case, the karyotypes on both babies came back normal, except for an inversion in one of Jeremiah's chromosomes:

This male karyotype carries a pericentric inversion of the heterochromatic region of one chromosome 9. This inversion written inv(9)(p12q13)) is an apparently normal chromosomal variation (polymorphism) found in approximately 2% of the general population. A large study carried out by Hsu et al. (1987) did not find any deleterious phenotypic or clinical effect of this chromosomal polymorphism, nor of any apparent association with fetal loss.

When my husband and I had karyotypes done on us, we found I have this same inversion. Our second lost baby, Miles, did not have it. Karyotyping is of very limited use in finding a possible genetic cause for such losses because it will only detect large changes in chromosome structure - large deletions, insertions, translocations, inversions, or duplications of thousands of base pairs. They will not detect single nucleotide changes, deletions, or insertions. The majority of genetic diseases are caused by single (or fewer than 10) base pair changes. It would be fascinating if DNA from babies such as ours could be analyzed with the technique written about here (read under "Completing the Picture").

In our case, we have wondered about a genetic link because of the circumstances of my husband's birth. He was born at term weighing only 5 lb. 0 oz. and had a small placenta and thin cord. Twenty-seven years later, our son David was born at term weighing only 5 lb. 0 oz. and with a small placenta and thin cord, exactly like dad. ALL of our four babies have had placenta/cord issues, with a 50% survival rate. When our daughter Tania was born, the doctor mentioned that her placenta was unusual because it had "2 sacs". She was not low-birthweight like her brother, but was still smaller than average at term, weighing in at 6 lb. 3 oz. Unfortunately, the placentas and cords from our two live births did not get sent to pathology. And of course our last two pregnancies were losses, Jeremiah from cord hypercoiling and Miles from cord stricture.

Since I've had a long history of gynecological problems (endo, cysts, etc.) it would be easy to conclude that our losses are my "fault", even though none of my problems are associated with late losses. I do wonder,though, if the problems my hubby had at birth were the result of a random and usually deadly genetic mutation affecting the cord/placenta - and now his random genetic mutation is passed on to our offspring as an inherited genetic mutation.

It should be noted that there have been no other cases of fetal loss or cord/placenta abnormality in either side of the family. My husband has four sibling and I have seven siblings who were all born without any issues similar to ours. Our siblings' children have all likewise been unaffected.

These days, of course, there are ways to get around a genetic flaw without jumping straight to adoption. In our case, if we knew the problem was genetic and we knew it came from my husband, I suppose we might go for a sperm donor because it's so much easier and cheaper than adoption, there are no strings attached, we would get to experience the pregnancy and birth, and the child would be 1/2 ours genetically.

But if we knew the genetic flaw was mine, then we'd be out of luck. For my part, I'm all for trying an egg donor even now with all the uncertainties of our case, but the price tag (estimated $30,000) puts this option way beyond our reach.

Another option for bypassing a genetic defect is embryo adoption, where "leftover" embryos from other couples' IVF treatment are given for "adoption" rather than thrown away. This option is cheaper and faster than adoption, the couple gets to experience pregnancy and birth, and avoid much of the legal and financial drama of a regular full-term adoption. The price tag (estimated $7000-8000) is a bargain if it works, compared to some other options such as using an egg donor, a surrogate, or doing an international adoption. But in my opinion it's still too much of a gamble unless you know you can bypass a genetic flaw in this way. Still, it doesn't hurt to be on the clinic's donor embryo list because it can take years before the option even becomes available. Who knows what our situation will be then?

So there are options, but even if mom & dad don't have religious, ethical, or moral qualms about bringing a 3rd, or even 4th party's DNA into the family, the resulting child may - and so might other siblings and the extended family. Of course, there's always the option of keeping the whole thing secret, but that also would bring up lots of issues.

The decision for us, at least for now, is that genetic tinkering will not be pursued. Although a good case can be made that our problem may in fact be genetic, we don't know that, so messing with our child's DNA would be a bizarre science experiment which, even if it went well and resulted in a live child, has the potential to put some very unique strains on our marriage and family.

Suspect #2: Genetics

Let's take a quick look (because there's hardly any information at all) at our #2 suspect for causing fatal umbilical cord abnormalities. Some researchers have suggested there may be a genetic basis for some types of cord abnormalities, and others have tried to disprove it.

The rarity of umbilical cord losses (it's hard to pin down a number on it - more on this in a later post) makes such research difficult and the rarity also means that almost no one in the medical community cares about this problem. There's no money in it. Rare conditions don't get much research or attention, and it's especially true of this problem because it kills the unborn, so the loss is intangible and easy to ignore for everyone but the parents of the dead baby.