Wednesday, August 24, 2005

No surgery for us

In the end, the baby qualified for the study but I did not, because of uterine problems.

I'm writing this from the Ronald McDonald House in Camden, New Jersey, where my mother and I have been staying during my evaluation for inclusion in the MOMS study. My father came with me too, which is very special for me because my parents are divorced and I haven't had many chances to be together with both of them since I was nine years old. (My husband couldn't come to the evaluation because he just started a long-awaited new job last week.)

On Monday, we had an incredibly thorough workup at the Children's Hospital of Philadelphia (CHOP). I can't say enough good things about the people there. They are a dedicated and caring group of professionals who could not have done more for me and the baby -- both to give us our chance, or to take wonderful care of us while we were at CHOP. Also, many thanks to Teendoc -- I am quite sure that without her "heads up" about us to Dr. Adzick, who leads up the team at CHOP, we would not even have been evaluated.

Initially I thought that things were going our way, because the very first test -- an ultrasound -- showed that my placenta was at least two centimeters away from my cervix. I could not believe it! Now my placenta is classified as "low lying," and I no longer have a diagnosis of placenta previa. I had also been concerned that I would not make the body-mass index limit of 35, because I am carrying a lot of extra pounds after my years of infertility treatment and failed pregnancies. But I made it with about ten pounds to spare.

However, during that same ultrasound, a few complications were found that I did not know I had until I came here. One was that the placenta has a kind of "offshoot" floating by itself, still attached by blood vessels but not part of the main body of the placenta. I have forgotten the medical term for it. They said this was a variation of normal and not much of a problem in itself, but it would further limit where they could make an incision. Also, they discovered a couple more small fibroids in addition to the large one I knew about. These were not in a place that would cause a problem, but apparently fibroids "irritate" the uterus and would place me at greater risk for preterm labor if I had the surgery.

Lastly, it looks like as the placenta grows with the baby, it might try to expand on top of the large fibroid. Apparently the risk there is of separation of the placenta and uterus at that point. Also, the baby's blood supply won't be as good "through" a fibroid than if the placenta were attached to normal tissue. Even without the surgery, there is the possibility that she won't get enough nutrients and may have to be delivered earlier than normal. Her growth will have to be followed through serial ultrasounds, which we were going to have anyway for the baby's hydrocephalus.

The doctors said that none of these by themselves would have been enough to exclude me, but taken all together, the risk of preterm labor and prematurity for the baby might be as high as 25% if I had the surgery. The consequences for the baby, if she were born before about 28-30 weeks, could be very serious. The doctors were not willing to take the risk on me.

We did not learn anything more about our daughter's condition, except that the fetal echocardiogram showed her heart is entirely normal. As we'd been told before, her lesion is at L4-L5, and she has hydrocephalus and Chiari II. The doctors said that in general terms, we can expect loss of function from the knees down, as well as bowel and bladder impairment. She will be able to have sex but without sensation, and bear children normally with c-section deliveries.

She may have learning disabilities or an IQ that is about 10 points lower than a normal sibling's might be, but on the other hand, some spina bifida children are "geniuses." To some extent, her intelligence will depend on whether she needs a shunt -- as about 80% of chlidren with Arnold Chiari II malformation and hydrocephalus do -- and how many complications she endures from the shunt. At this point her feet are not clubbed, but that could develop as the pregnancy progresses. The doctors would not speculate on how much her condition will degenerate from now until the time when she's born and can have her back closed.

So, it's over. I am heartbroken that another defect in my body has harmed one of my children. My faulty ovaries resulted in the deaths of my first two babies, and now my fibroid-infested uterus has prevented this baby from getting what she needs. Or at least, having the opportunity to be randomized into the surgery group.

The doctors and others on the team emphasized over and over again that it is just not known whether there would have been a benefit from the surgery significant enough to justify the risk of premature delivery. But I believe in it. These are brilliant doctors. If they did not think there were a benefit to the surgery, they would not be doing the study at all. The purpose of the study is to prove the benefit of the surgery so that insurance will pay for it. All one has to do is to go back and read Dr. Adzick's press clippings from around 1997, to know that he believes in it wholeheartedly. My baby simply had the misfortune to be born during the study period, and to be growing inside my defective uterus.

There is nothing more I can do to help my baby until she is born, and I am going to have to live with the knowledge that every day of the pregnancy, her condition may grow worse. I see her little legs moving on the ultrasound screen...her feet even flex, which I was told is rare for a spina bifida child...and it's an agony to know that by the time I deliver her into the hands of people who can help her, she may not be able to do that anymore.

I am told that I should take comfort in that I did my very best that I could for my little girl. But what is a mother to feel when her best simply isn't good enough? I suppose I had better figure that out...because I am sure I will fail her again and again in the future, no matter how hard I try. Maybe that's something all parents have to face, whether their child is disabled or not.

Thank you all for your prayers and good wishes. It means a lot.

Wednesday, August 17, 2005

Going to Philadelphia

Now, don't get excited everyone. But, I'm thrilled to report we've been cleared to go to the Children's Hospital of Philadelphia (CHOP) for evaluation to see if we qualify for the fetal surgery that we want for our daughter. We are by no means guaranteed to get into the clinical trial, much less get the surgery -- but we are a step closer than I thought we would get.

I thought we were definitely out of it once my placenta previa was confirmed, but the coordinator of the MOMS trial sent my ultrasound images to one of the surgeons to take a look. He said that my placenta previa looked "marginal," meaning it is right at the edge of my cervix but not covering it. (This makes me laugh because so far I've been told that this placenta previa is "complete," then "partial," and now "marginal." That's all three kinds.) The surgeon said that the placenta might move far enough from the cervix that I would qualify for the study, and it was worth the trip to Philadelphia so they could evaluate me and the baby in person.

I think this is still a long shot, but if nothing else, I will have the benefit of another ultrasound (ha!), another MRI, and a fetal echocardiogram to tell me more about how our baby is doing. So wish us well! I will leave on Saturday and will be evaluated in Philadelphia on Monday and Tuesday. I'll have news to share by Wednesday about whether we made it into the trial and if we were then put in the surgery group.

We had all our appointments at our local Children's Hospital last week. Many of the professionals there were very positive about our baby's outlook, but we began to realize that a roomful of doctors equals a room full of opinions. Everyone agrees on the basics -- that our girl has spina bifida, mild hydrocephalus, and the Arnold Chiari II malformation, with normal brain development and chromosomes -- but they had slightly different thoughts on what her outlook would be. For instance, one doctor told us that there is no such thing as an "untethered" spinal cord when a child has a myelomeningocele lesion, because the cord always becomes attached to the skin and muscle around it. This is contrary to what we were told by the doctor who read our MRI results. It sounds like we will not know what is in store for our daughter until we meet her...and perhaps not for a year or so after that.

The neurosurgeon, who will operate on our baby right after birth unless we get our care in Philadelphia, gave us some news of concern about our daughter's Chiari. That is a condition in which part of the brain stem is down in the neck. Contrary to what I thought, hydrocephalus doesn't cause Chiari. It is the other way around, with the Chiari malformation blocking proper flow of cerebrospinal fluid (CSF) between the head and the spinal column so fluid builds up in the ventricles of the head. It's not exactly known what the relationship is between the Chiari malformation and the hole in the spine.

Fifteen percent of children who have Chiari II are symptomatic, and may have problems such as sleep apnea or difficulties swallowing. If our daughter is symptomatic at birth, she might die before she is two or three years old. This makes me all the more interested in fetal surgery, because one of the benefits seen in some infants is a reversal of the Chiari II malformation. The theory is that blocking the hole in the spine causes fluid pressure that might "push" the brain stem back up where it belongs. I asked why this would be true of fetal surgery, but not true when the surgery is done after birth -- and of course, no one knows. They think that possibly before birth, the Chiari malformation is not fully formed.

We also talked to a genetic counselor. I was dreading that appointment because I thought she might steer us toward abortion or forbid us to have another baby with our frozen embryos. But it turned out to be one of our best consults. She took a family history of my husband and of all that we know about our donor, and asked some questions about how I've taken care of myself in pregnancy. Then she said emphatically, "You did everything right. Most cases of spina bifida happen just like yours: Out of the blue, with no family history. There is no way you could have anticipated this."

She said that if we ever want to try for another pregnancy with our frozen embryos, that baby would have a 2-4% chance of spina bifida, and that I would be put on a mega dose of folic acid. I asked why I wasn't given it before, and she said, "It is only available by prescription and only given when there is a family history of spina bifida. No one would have offered it to you." She reassured me that missing a vitamin here or there would have had no effect. I even asked her about drinking tea. I have had a cup of black tea some mornings during pregnancy, with my OB's permission, since for me it soothes nausea. But I happened on a study on the Internet linking tea to spina bifida. I had hysterics until my husband found a more complete version of the study that blamed green tea. The genetic counselor said she's never read anything against black tea, and that one cup a day of anything other than toxic waste would never cause any kind of problem. She made me feel a lot better.

We also heard about how the baby would be transported from my delivery hospital to Children's shortly after birth. I was sad that I could not see her for a few days after my c-section. But my OB says she will get privileges at an "adult" hospital connected to Children's by tunnel. As soon as I can get myself out of bed and into a wheelchair, my husband can push me to her crib in the neonatal intensive care unit. That is where our daughter will be for 2-3 weeks after birth to have her surgeries, if we do not get into the study.

I had imagined not being able to touch the baby for all that time, but it's exactly the opposite. Mom and Dad can come in anytime day or night, and are invited to do as much of her basic care as they want to. The nurses are very in favor of feeding her with breastmilk if I can produce enough, though it will have to be given through a feeding tube after her surgery, and then by bottle, since she can't be picked up for awhile. And we were told they will not release her until we are comfortable with doing her catheterizations and any other special care she needs from her spina bifida, which was a big relief.

So, things are looking up. There will be many hard days ahead, and I'm frightened and depressed sometimes. Well, a lot of the time. But now and then, I can let myself imagine the moment when I finally get to hold my baby, and lift her to my cheek, and just breathe her in. I think in that moment, I won't regret a single instant of these years of struggle, or all the pain it took to become a mother. I think it will all disappear, and there will be only her.

Friday, August 05, 2005

Lots of test results

Hello again everyone. Thank you so much for the prayers, support, and good wishes for our little girl. All of your notes have meant so much in these last days. I haven't had the energy to post much, but I do come and read comments a lot.

First, I wanted to respond to "Wishing4ababy"'s kind heads-up regarding the Children's Hospital of Philadelphia (CHOP) and fetal surgery. Nowadays, CHOP offers fetal surgery for spina bifida only in the context of the MOMS study that I wrote about before. I am working with the coordinator of the MOMS study to see if we qualify, and if we do and are selected for surgery, we would go to CHOP.

However, I had a special ultrasound yesterday to see where my placenta is located, because placenta previa is an exclusionary criterion for the study. It turns out that right now, I have a partial placenta previa, which means my placenta is partially covering my cervix. Today, my results will be sent to the coordinator of the MOMS study, and she will send them to the surgeons in Philadelphia who will make the ruling of whether we can participate in the study based on this problem. I should know sometime today, or Monday at the latest.

My husband and I are resigned to not getting in to the study. The doctors want only low-risk pregnancies in the study, so that if a baby were to be born early or suffer other complications, they could be reasonably sure it was due to the surgery and not to placenta previa or some other condition. I guess our only other option is to explore having the surgery in another country, and I have not done any work on that as yet.

Of course we were concerned by the placenta previa itself. I did not know that I was at such high risk for this condition, but it turns out that older mothers with fibroids and previous uterine surgeries such as myomectomy and D&C (that's me) are at increased risk for placenta previa. If it does not clear up, there's a risk of premature birth and serious bleeding as the pregnancy progresses.

I was surprised that our perinatologist and OB were not more concerned, but when I read more I learned that 90% of the time, placenta previa diagnosed in the first or second trimester resolves itself as the pregnancy progresses. That is because, as the uterus increases in size, the implanted placenta is pulled into a new position, often away from the cervix. Even if my placenta previa persists, as long as there's no bleeding the only complication will be a c-section delivery. I will have that anyway for my spina bifida baby because they don't want to traumatize her spine with a vaginal delivery. My only restrictions right now are no sex, and no high-intensity exercise.

On the plus side, we had an MRI of the baby this week and there were some positive results. Her diagnosis of myelomeningocele was confirmed, but I must have misunderstood the doctor after the ultrasound because they now say that her hydrocephalus is "mild." Also, her brain development is normal. This means that if the fluid pressure in her head does not get much worse during pregnancy, she has a very good chance of avoiding brain damage. Also, they saw that her spinal cord is not tethered. That is a condition where the spinal cord gets stuck at the site of the deformity. When that happens, even more damage is done to the nerves because the cord can't move as the baby grows. Our baby still has the damage of the myelomeningocele itself, and we won't know how bad that is until she is born. But the lack of cord tethering at this point is good news.

The MRI took 40 minutes longer than the normal one hour -- my legs were numb from lying on my side all that time! -- and when they took me out of the machine the radiologist apologized and said, "You have a very squirmy baby! She wouldn't hold still to have her picture taken." I was happy to hear she's still vigorously moving her legs.

Also, we received preliminary results of the amniocentesis, and so far our baby is chromosomally normal. We'll receive the full report sometime next week, when we will also have a series of appointments at Children's Hospital to learn about the treatment she will receive for spina bifida. The MRI was at Children's and I must admit that I was very sad that morning as we walked by so many sick children and their exhausted, hollow-eyed parents. I said to my husband, "This is the first trip of hundreds we will make to this hospital." However the staff was upbeat and very kind; they even gave me a yummy boxed lunch because I wasn't allowed to eat before the MRI.

There is such a bewildering amount to learn about how to care for our daughter, and some days it is overwhelming and I cry a lot. But I have had some wonderful emails from spina bifida parents and even spina bifida sufferers. Nearly all of them begin their email or post with, "Congratulations on your baby girl!" And I guess that is where my focus should be -- on my daughter, and not her disease.

Thanks again for all the support and prayers.

Monday, August 01, 2005

People are lovely

Hello again everyone. I wrote before that my previous post would be my last, but I simply had to respond to the outpouring of love and support you have showered on me, my husband, and my daughter. People are lovely. "Thank you" is pale and inadequate for what I feel...but I must say it. Thank you. Thank you so much.

I see from the comments that in my hysteria, I was somewhat confusing last time about our daughter's diagnosis. Malka has the right of it: The quad-screen blood test is not diagnostic of spina bifida or any abnormality. All it can tell you is whether, based on the substances in the mother's blood, there is an increased chance of a problem in the baby. My test revealed a 1-in-14 chance of neural tube defect. Those odds are much higher than normal for a 27-year-old egg. Had I known that going in to the Level II ultrasound, I would have had some warning of what was to come, but since the results came back after I was already having the ultrasound, we were stunned.

There is no doubt that our girl has spina bifida. Even Bill and I, watching the ultrasound screen, could see the bulge of the myelomeningocele on her spine. And there was something subtly off about her head. To use a cruel but visually descriptive word, it's rather a conehead. Not so grossly deformed, yet, that we could spot it on the first ultrasound with our layman's eyes, but after we were told she had the hydrocephalus that accompanies spina bifida, we could see it.

You all know what a champion worrier I am. I worried about my blood pressure, my uterine fibroid, diabetes, pre-eclampsia, and anything else suggested by the Internet that might complicate a 40-year-old's pregnancy. But the possibility of a birth defect never crossed my mind. After the death of my first two babies last year from chromosomal problems, I made the difficult decision to sacrifice my genetic link. And in my mind, I had a binding contract with God: Hey. You up there. Are you watching this? I'm giving up on my crappy eggs and I won't be screaming prayers at you anymore for a genetic child. Now for that, I get a healthy baby, right? Even-Steven. Let's shake on it.

Now I feel betrayed, although there's nobody to blame except my own naivete. God never promised me a thing.

And yet, I don't want to scare any woman out there who is considering donor egg. This is a statistical nightmare, nothing else. I don't have all the facts and figures and wouldn't know what to do with them mathematically if I did...but I know that in the U.S., spina bifida children account for only 1 out of every 1000 - 2000 births. If some smartypants out there could cross that with the tiny number of donor egg births each year, what are the odds that a donor egg baby turns out to have spina bifida? It has to be somewhere around the likelihood of getting struck by lightning, hit with a falling coconut, and bitten by a shark all at the same time. So please, if you are considering DE, doing a DE cycle, or pregnant with a DE baby, don't let what happened to me and my daughter frighten you. Take your folic acid every day, and rest easy. Or at least, worry about something else.

A few of you have asked what is next for us. Last Friday we had an amniocentesis to determine if there is anything else wrong with our baby besides her spina bifida. The perinatologist told us, "Frankly, I do not expect to find anything bad on this test." He didn't say, but I took that to mean that he had spent a long time looking at her organs and her limbs on the ultrasound, and didn't see any other cause for alarm. The amnio results will take about 10 days to come back.

Meanwhile, we will at some point -- when they finally condescend to quit yanking us and set some firm appointments, grrrr -- go to our local Children's Hospital and have a battery of tests, including an MRI of the baby. Possibly that will provide more specific information about her condition. After all the testing is done, we will meet with doctors and genetic counselors who will hopefully make some better predictions about her prognosis and "give us our options." A friend who has gone through something similar (though her baby, thank God, turned out to be entirely normal) warned me that this is a painful euphemism for the abortion hard-sell and worst-case scenarios we will encounter at the hospital. I'm bracing myself.

But what I am hoping for is some guidance. I want them to tell me something like, "With stats like your daughter's, 80% of children will be mildly retarded but will eventually walk," or something like that. All we have been told so far is that with her lesion at the L4 vertebra, she is likely to have problems with bowel and bladder control but will not be fully paralyzed in her legs. Given that she has hydrocephalus and Chiari II malformation of the brain, the outlook for brain damage is more uncertain, and I can't find much on the Internet to guide me. After she's born, shunt surgery will relieve the pressure, and the perinatologist said that if the fluid in her head becomes no worse during the pregnancy, it will be a "good sign." But the truth is, the damage to each particular child is very unpredictable, because no one knows which of the exposed nerves is being damaged until after the baby is born and her development can be monitored.

There is also the possibility of experimental in-utero surgery. Doctors who observe spina bifida children on ultrasound have noticed that early in pregnancy, their legs can be seen to kick. And then, as the pregnancy progresses, their legs stop kicking. This argues that nerve damage is progressive and if the exposed nerves could be covered up before birth, some damage could be avoided. Nothing can heal the damage already done to her, but if we could get the surgery, she might function at a much higher level. Even better, in some children who've had the surgery, the Chiari II brain malformation has reversed, and the progression of hydrocephalus is arrested. Not for all children, but some. The risk of fetal death from the surgery is 5%, but to Bill and me, it would be worth it.

They started doing these surgeries around 1997, and they used to offer it electively. However, not all children who had the surgery appeared to be helped by it. Doctors had no clear indication of whether the children who did well after surgery would have done so anyway, or had in fact seen a benefit from surgery. So all the doctors who perform the surgery have banded together and decided to do a clinical trial called the "MOMS study." They will offer surgery only to those who qualify for the trial. If accepted into the trial, a computer program randomizes each mother and baby into one of two groups: in-utero surgery to close the spinal lesion, or post-birth surgery (which is the normal treatment for a spina bifida child).

I do not think we will qualify for the clinical trial. I have looked at the inclusion/exclusion criteria on the MOMS web site and I see a few areas of concern: I have a uterine fibroid; I have type O-negative blood which argues for maternal/fetal blood incompatibility; and worst of all, the perinatologist says I have placenta previa (my placenta covers my cervix). He says this might not necessarily exclude me from the study, because the placenta extends toward the back of my body, leaving the surgeons a place to cut on the front of me. But I am still not hopeful.

Initially I thought that what I read online could not be true. Surely, if her father and I want to take the risk of surgery for our girl, they would not deny care to her because we don't meet the study criteria? But I have called the study coordinator and one of the hospitals that previously offered the surgery electively, and both told me bluntly: "If we let people have the surgery without being in the study, no one would join our study." Apparently, science is more important than my baby.

Please, if there are any spare prayers lying around at your house, ask that by some miracle we can get our girl into the study, and that we are then coin-tossed into the surgery group. I believe with all my heart that it might help her, and that if she could speak to me now, she would say, "Mommy, take the chance. Help me in every way you can."

I really think that at this point, God owes her a favor.