More Lazy Linking: Prenatal Testing

Michael Bérubé has a post up at Pandagon about prenatal testing, with a link to an article of his in the Toronto Globe and Mail.

Instead of waiting until I can produce a thoughtful post on this topic, which may never happen (given my recent experience of many drafts unfinished), I’m just going to post the links and one quick observation.

Obviously, having done both preimplantation genetic diagnosis and amniocentesis, I believe that people should be permitted to do prenatal testing. I don’t see muchjustification for making it mandatory, however, as apparently some doctors in Canada have suggested.

My previous posts on pgd and prenatal testing: here, here, and here.

More Good News: Social Security

I was about to post this:

The local Social Security office sent Mr. Luo a letter with a temporary password. He is suppposed to convert it to a password of his choosing within a month.

Must be to help him check the status of his application, right? Although I seem to remember they already sent him a password for that…

On page two of the letter it specifies that the password is to check benefits and can only be used after he has received notice that benefits have been approved. Of course, that probably won’t happen for another four months, at least, acccording to the estimate (not a promise, just a projection) that they gave us when he applied.

But a few days later, we got the notice that Social Security had approved his benefits, starting in February (which, at 6 months after he lost his job, is the earliest he is eligible for the benefits).

Let’s hear it for hard-working and efficient government workers!
Apparently, Dr. Respectful’s letter was authoritative enough that the Social Security people decided not to bother sending Mr. Luo to one of their doctors, which must have sped up the process considerably.
There is no net financial benefit to us from these benefits, since the private disability insurance benefits will be reduced. However, applying for Social Security was a requirement of the private policy. (Also, in two years, he will be eligible for Medicare). Anyway, I hope that all the recent local applicants who desperately need their Social Security money also had their benefits approved expeditiously.

For your information, all these benefits are taxable, depending on family income.

Good News

Mr. Luo’s long-term disability benefits have been approved, which is good, since he just got the last short-term disability benefit check.

This is not Social Security, but the private disability insurance he had through his employer. If you have the option of getting this kind of insurance, I’d recommend it. I pay premiums every month for my short-term and long-term disability benefit. Having missed half a semester of work in graduate school due to illness, I took all the insurance I could get in my initial benefits enrolment period, that is, when no forms with nosy questions about past medical history are required. (I hope I’ll never need disability benefits, and will look back longingly at those premiums in my old age, imagining all the hot stocks I could have purchased.) Mr. Luo’s premiums were paid by his company. His benefits are taxable, but I was told mine won’t be, because I pay the premiums on an “after tax” basis.

Knowlege is Power, Knowlege is Risk

Warning: I find this post rather meandering, but I cannot seem to fix it. Since one hope for this blog is to get away from the kind of editing paralysis that affects my professional work, I’m just going to post it.

As I mentioned, we talked about prenatal testing with my obstetrician last week, and Mr. Luo and I have talked about it ourselves. Yesterday we spoke to a genetic counselor at the perinatologist’s office.

Our IVF clinic and the separate preimplantation genetic diagnosis lab have both required or strongly suggested (on various versions of the consent forms we signed over the past year and a half) that we do prenatal testing to confirm the accuracy of the preimplantation genetic diagnosis. The possibility of error is not something I really want to think about, though I know it is there. Before we ever started, I read about Julia’s first unsuccessful attempt to screen out her husband’s balanced translocation using pgd. The fact that our lab and clinic want us to double check is an acknowlegement of uncertainty that exists to balance their assurances that so far, they have not screwed up a pgd for TFD.

As an aside, the problem of pgd errors was an interesting section in the report I wrote about before.

According to the report,

“Nearly all IVF-PGD clinics (96%) either recommend or require follow-up amniocentesis or CVS testing to confirm the PGD results once pregnancy has begun.”

Since the report was based on questionnaires sent to directors of IVF clinics, I was not surprised that they primarily did not blame medical error but mosaicism for errors.
Our main concern is which test can best check for TFD and is the safest. I found a press release about a recalculation of the risks of Chorionic Villi Sampling, but the genetic counselor said they are still quoting the older statistics until there is more confirmation of the new ones.

She also said that there is more risk of mixing up maternal and fetal cells with CVS than with amniocentesis. They would take a sample of my blood to check whose cells they were testing, so we wouldn’t get incorrect results, but if they end up with the wrong cells, I would have undergone the risks of the test without getting any information from it.

When we started talking about this, I wanted to avoid all the testing. The rates of miscarriages in the blogs I read are higher than the general statistics, so I was very afraid of complications. Since we don’t want to abort a fetus with TFD, why take the risk? Also, once we started dealing with a 50% chance of TFD, it put the chances of the kind of chromosomal abnormalities that are a worry at my age (3% according to the genetic counselor) into perspective. Mr. Luo thought it was better to know if the kid had the TFD mutation.

By yesterday, we had switched positions. I want to know whether the pgd was accurate or not. Let’s be honest, what I really want is to confirm that the embryo does not have the mutation. If we do not test prenatally, the child cannot be tested for TFD until he or she is 18, according to current guidelines, unless there are symptoms of juvenile-onset TFD. Also, I started worrying about the age-related problems again, or at least thinking I would like advance notice of them.
Mr. Luo is worried about the risks. Not just of miscarriage but also of genetic discrimination if a positive test for TFD for our child is in the great big national insurance database.

If we do test, we will do amniocentisis, in the hopes of a lower risk of miscarriage and a lower chance of maternal cell contamination. One advantage of that decision is that it gives us a little more time to decide whether to do the test at all.

If it weren’t for TFD, what would we do? I would probably want to do the quad screen and a nuchal transparency test, and hope to avoid invasive testing. I’d be inclined towards no invasive testing, but the way I’ve been waffling on this, who knows.

Another aside: I was paging through a book on childbirth and pregnancy at my university library (can’t remember the title) that had a statistic on the large percentage of people who say they wouldn’t abort based on prenatal testing vs. the large percentage of people who do abort based on prenatal testing. A striking difference, although I don’t know if the stats were adjusted to take into account that some of the never-abort population will just not do the tests.

The fact is, though, that we won’t really know what our reaction will be until we are faced with an actual rather than hypothetical decision.

Julia at Uncommon Misconception has a wise and impassioned post on prenatal testing on just this subject.
At our appointment last week, the ob reminded us that on rare occasions, the tests find something that changes what is the best way to manage the pregnancy. And so on. The cowardly part of me wants to avoid having to deal with a bad result (because a surprise miscarriage or stillbirth is so much better?) while the logical part of me wants to be able to plan for something like a problem that is compatible with life but that may call for specialized neonatal care.

Some practical matters, in case you are in our situation (that is, testing for a specific genetic disease rather than the standard chromosomal abnormalities they usually test for):

According to the genetic counselor, when testing for a genetic disease like TFD, the lab doing the testing usually wants to have done their own test on the affected parent. The genetic counselor called the lab that did Mr. Luo’s test to see if they do prenatal testing (they do). If they didn’t, he would have had to have another test done by the lab doing the prenatal testing.

The other thing she checked on for us is whether the lab would do both CVS and amniocentesis. Some labs won’t do prenatal genetic testing with cells from CVS because of the maternal cell contamination problem. Ours will do both, so it is up to us to decide.

Timing: 2 weeks to culture the cells before sending them to the lab, the 2-3 weeks for the lab to test them.

One final note: I have read about genetic counselors who seemed to strongly push testing. I did not feel that ours did at all. On the other hand, I was more in favor of testing after the consultation, so maybe she was simply subtle in her pushing.

Good Doctor, Bad Disability

I’ve written before about how much I like Mr. L’s specialist, Dr. Respectful, both for his manner and his expertise.

Of course, behind every successful man, as the cliche goes, is a good administrative assistant, ie. woman, Mrs. Overworked-but-Friendly (and probably Underpaid). Between the two of them, they have come through again.

We asked for a letter to give to Social Security to accompany Mr. Luo’s application. Mrs. Overworked said they could do it, of course, but that it wouldn’t be ready until the end of November, so we should try our best not to schedule the Social Security doctor’s appointment until then.

Mr. Luo also had a non-anonymous TFD test done so as to be able to send in the results to the disability folks. When we received an envelope from the doctor’s office today, we were expecting a copy of the results. We also got the letter we’d asked for, three weeks before they’d promised it to us. (Along with Dr. Respectful’s cv to document his expertise for the Social Security Administration. I think I’d like a cv from all my doctors. On the other hand, I now feel even more like a slacker.)

Most of the search terms that lead to this site have to do with progesterone in oil shots or other fun activities associated with ivf. There was one for “disability paperwork.” I hope that person found better information somewhere else, because I don’t think I have said anything useful.

10w3d

The ob appointment on Thursday went fine, although we had to wait a while as the doctor rushed off to the hospital next door to catch a baby. I knew they would probably be behind schedule anyway, since the appointment was late in the day.
The size of the fetus and heartrate were deemed just fine. I had noticed that I could feel something firm-the uterus-underneath my belly flab before my pregnancy book said I would and that it was now bigger than the book said it would be. I wasn’t sure if this was due to normal variations or to the embryo being some kind of giant. The doctor said it was the fibroid (described by the sonographer last time as “ginormous”) taking up space.
The doctor was all reassurance. There are plenty of women my age and older in the practice who do fine. The advanced maternal age thing is mainly a problem for a. chromosomal abnormalities, which we can test for if we want to and b. conditions like gestational diabetes or high blood pressure, for which they will monitor. My mother’s experience with toxemia was noted but did not cause too much concern beyond the already-stated need to monitor. There is probably no reason I will not be able to travel to an international, yet nearby conference in April.

I had a long list of questions, and to my surprise (and with Mr. Luo’s help) asked most of them. Not surprisingly at all, I did not ask the hardest ones (for me, because they involve being assertive and taking responsibility for one’s own care): about c-section rates, inducement policies, episiotomies etc. Stuff that I didn’t even know to ask three years ago, when I went in for a “pre -conception” appointment, based on the recommendation of a friend who had recently given birth. I decided I will ask later, and for some of those, I can just call and ask the nurse. My need for assertiveness training in medical situations could be a whole series of posts.

He referred us to a perinatologist for genetic counseling to discuss which prenatal test is best if we need to confirm that the pgd worked and the embryo does not have the TFD mutation. I think I will save a discussion of testing for another post, since I am not entirely sure how I feel about it.

Disability Paperwork

I like Mr. Luo’s doctor. I knew he was well-respected in the field of TFD, but what impressed me the most at our first visit was the respect he showed to Mr. Luo. A disease that causes involuntary movements and slurred speech can lead to condescension and even the dreaded talk-to-the-companion-as-if-the-person-weren’t-there behaviour, even (especially) from doctors, even though Mr. Luo’s symptoms are mild. We were quite happy that this specialist had set up a once-a-month clinic in Our Fair City for people with TFD.
Dr. Respectful and his office have been very helpful with the paperwork for the private short-term and long-term disability insurance. When I got home on Saturday night, amongst the stack of mail and papers on the table was a letter suggesting that the enclosed long-term disability paperwork should be filed by yesterday (9/26). Since Mr. Luo had an appointment scheduled for Monday as part of the clinical trial, we took the papers with us, figuring that the doctor would take them back to his main office a couple hundred miles away, have his assistant fill them out, and fax them sometime soon. Instead he filled them out and faxed them while we were in the waiting room waiting for 15 minutes to make sure Mr. Luo wasn’t fatally allergic to the first dose of clinical study drug (or the placebo).

So, Dr. Respectful is wonderful. But did he have to put “FATAL” in all caps and underline it in his description of TFD on the disability form? Because it makes the denial a little harder to maintain.