Jen's Pregnancy Blog

I’ve told people over the years that, having been born with this body, I get to study human behavior in ways that most people don’t get to. I believe that anyone with a physical or obvious difference can learn a lot about people just by being alert and mindful of the people around them. It’s something I do almost unconsciously any more. I love looking at life that way. I’ve always loved learning and this allows me to continue learning throughout my life.

Well, this pregnancy has brought all of that thought process to a new place. I am amazed at how many different reactions I’ve gotten from friends, family, and just acquaintances about my pregnancy. The reactions have ranged from outright joy & excitement to concern & question.

I have run into people who are not sure how to react. I think people can’t picture a woman who is 3 feet 2 inches tall being pregnant or giving birth. Some weren’t initially sure if this pregnancy was intended. We hadn’t told a lot of people outside our immediate circle of friends that we were trying. So, for many people, this news has been a bit shocking. However, most people get over the shock fairly quickly.

I have also run into an oddity. A few people have edged to this, but I have one person in my life (who will remain anonymous) who is being rather over-protective and is trying to smother me. I want to make it clear that it is not necessarily conscious or intentional on their part. Anyway, this has got to be my biggest pet peeve. Being born with this body, it’s something I’ve had to fight all of my life. People, because of my size, want to baby me. On some level, I understand that our human brains are wired this way; we judge someone’s age and capacities based on size. So in some ways it is natural for people to feel a bit protective of me. However, there are some people who cannot keep that urge in check, even when they know me well and know that I am perfectly capable of taking care of myself. I continue to struggle with dealing with this particular individual because I don’t want to offend this person, but I can get annoyed with this kind of behavior fairly easily.

Some members of my family and a few friends have concerns about my ability to stay well during the pregnancy. They are justifiably concerned. I can understand that. Some women in my place could be annoyed, but I look at it as a sign of how much they love me.

Then there are the majority of my friends & family. Most are almost more excited than I am! Maybe that’s because they don’t have to wake up with Baby at 2am! No, I’m kidding. Many are excited to watch my stomach grow. A friend & co-worker of mine wants to set up a pool to guess how big my tummy will get! I think that’s hilarious.

We have gotten lots of offers to help, which Brian & I are both so grateful for. We will need help, both in preparing for Baby and once Baby is here.

My most recent appointment with my doctor was this past Wednesday. Jean, the nurse, administered several of the routine tests, all of which came out just perfect. My blood pressure, blood sugar levels and everything else they test for was fine. I haven’t gained a lot of weight in the last couple of weeks, but I’m no longer losing weight, so they seem satisfied. I also got to listen to Baby’s heartbeat; Jean said Baby’s heart rate is right where it should be.

Then Dr. B came in. We had a discussion about anesthesia and the anesthesiologist that works with my doc. My doc has already spoken to him and they are both desperately researching anesthesia in people with SED. They are frustrated because they cannot find any literature on the subject. (A couple of days later I faxed the list from the Kniest/SED website on just that topic. I always say you have to be your own best advocate!)

We also talked about what we will be doing over the next few weeks. Dr. B wants me to meet all of the other docs in his practice. That way, if something were to happen and they needed to care for me in my doc’s absence, they would be familiar with me and I with them. My doc also wants me to meet the anesthesiologist, again so that he can become familiar with me and start working up a plan for my c-section.

Jean and I also talked about the different classes offered by the hospital about childbirth and baby care. Brian and I plan to take a tour of the NICU (neonatal intensive care unit) and take a basic baby care class.

Dr. B wants to see me again in two weeks, and then do another ultrasound to monitor the growth of Baby in four weeks. I’ll keep you posted!

I hope I'm not speaking too soon, but I think my appetite has finally returned for good. For those of you who may not know, I was kind of sick for the first couple of months. It wasn't too bad, but my appetite was pretty much gone. I even lost weight, which is common in newly pregnant women.

This trend is turning around, thank goodness. Just today I notice a serious turnaround. I now want to eat a lot of different things. I had KFC for dinner (drive through, of course!). Candy tasted good this afternoon. I actually feel hungry again. And not everything makes me gag any more! Hurray!

Since announcing our pregnancy, Brian & I have been asked if we have a preference for a boy or girl. I’m not sure what Brian’s preference is or even if he has one. My standard response has been that I’m lucky to even be doing this (given that I was told for many, many years that it either wasn’t possible or was far to risky to do so), and that I just want a healthy baby.

But the SED/average-size baby question is a little more involved. Only close friends and family have asked me this question. Many assume one way or another would be easier for me to care for. I look at it this way: if Baby has SED, that means Baby will not sit, crawl or walk as soon as an average-size baby would and will need to be carried around for a longer period of time. But, Baby will stay smaller for longer because SED babies don’t grow as fast (a trend that will continue for their entire childhood). With an average-size baby, the baby will get bigger faster, but the baby will be more mobile more quickly. So, to me it’s a mix. There are advantages and disadvantages for each.

In the end, with both questions, I figure I don’t have a say-so in the matter. These things have already been decided. Therefore, Brian & I will figure it all out when Baby gets here.

Two weeks after that, at about 10 weeks gestation, I had another test. This was a prenatal test to measure the thickness of the back of Baby’s neck. Taken with a blood test, the results can tell you how likely it is that you will have a baby with Trisomal 18/13 and Downs Syndrome. Trisomal 18/13 is a condition where the baby has either gotten an extra copy of chromosome 18 or 13. This condition, in 90% of cases, is lethal for the baby; most die before or right at birth. I am happy to report that the test results are back and there is very little likelihood that our Baby has either condition. In fact, the nurse was very happy with the results when she called me.

Now, understand I didn’t expect anything to be “wrong.” I am under 35 years of age and am relatively healthy. Brian & I felt a bit of pressure at our first appointment to do some prenatal testing because of our genetic backgrounds. It had everything to do with our dwarfism since neither of us has any other conditions in our family history that would put us at risk. We met with the staff geneticist at our first appointment and determined that our risks for many genetic issues (other than our dwarfism) was extremely low.

I will not consent to an amniocentesis (unless a new situation presents itself that actually warrants such a risky procedure). I don’t need to know right now whether or not Baby has dwarfism; it wouldn’t change anything about what’s happening. And my doctor and I agree that we will be able to determine that later in the pregnancy through ultrasound. So, we wait.

Let me try to quickly explain the genetics between Brian & I. Brian’s dwarfism (diastrophic) is a recessively inherited form of dwarfism. Both of his parents are carriers but neither of them have it. It takes two recessive matching genes for that form of dwarfism to show up. Since it is highly unlikely that I carry that form of dwarfism, our child will be a carrier for diastrophic, but will not have it.

My form of dwarfism (SED) was a dominant genetic mutation. That means that no one in my family before me had it or was a carrier for it. A simple mistake was made as my chromosomes were splitting during my creation. One of those genes didn’t get copied exactly and now I have SED. Because it is a dominant gene, it only takes one gene for our Baby to have SED. So there is a 50/50 chance that our Baby will inherit the SED gene from me.

It was mid-March when Brian & I found out I am pregnant. One evening we were trying to decide what to have for dinner. Everything he suggested sounded just disgusting to me and he was suggesting things I normally love. I asked Brian stop by the store on his way home from work to get another test. The results were immediate; no need to wait two minutes like it said in the instructions. The instructions made it clear that I wasn’t just newly pregnant; I had been pregnant for several weeks.

We spent the rest of the evening calling our parents and giving them the news. It was a fun evening. I think we were both excited and in shock at the same time. The next day I called my doctor who got me a referral to the high-risk OB I wanted to see. They made me wait another two weeks before coming in for an appointment.

At the first appointment, the first thing they did was have me lay down on the table and they performed and ultrasound. Brian & I were so excited to see those blurry black and grey images of our new baby. Those first imagines didn’t look a whole lot like a baby (in fact, my younger brother thought baby looked like a shark!). The technician, Suzy, took several measurements and it turns out I was already 8 weeks along. We heard the heartbeat & Brian even saw baby move. We were on cloud nine for the rest of the day.

Two weeks later I had a second ultrasound. Baby started looking more like a baby at that point. Baby had a distinguishable head and body. The arm & leg buds were visible. And Baby’s heart rate was just where it was supposed to be.

Hello everyone!

I'm starting a blog today to document my pregnancy over the next few months. Brian & I have so many friends and family spread across the country & the world that the best way I thought to keep people updated was to create a blog.

I have a confession: this is my very first blog ever. So, if I somehow don't follow protocol or custom, please be patient with me.

Today I am feeling fat. I said this to several people at work and they looked a bit horrified and tried to talk me out of such negative talk. I don't see it as negative at all. My belly is growing and I feel fat! I'm supposed to get fat, I'm pregnant! But right now, since the morning sickness and other symptoms seem to have disappeared, that's the only thing I've got right now to remind me that I'm pregnant. I don't see it as a negative at all. I see it as a positive sign that the pregnancy is progressing as it should.

More tomorrow.