Questions and Answers, Part 2…

I did the first part of this post last night, where I mentioned a few of the specifics of the two complications (iso-immunization and skeletal dysplasia) we are facing in this pregnancy.    That doesn’t even begin to cover alot of the questions we had, and it turns out that our families and friends had alot of the exact same questions when we told them about it.   So I figured I would post some of those questions and answers here, in case there were others who were wondering.   Again, feel free to skip or skim this post!

Are these two issues related? No. The doctor said he didn’t think he had ever seen them in the same pregnancy.  They are totally independent of one another.

How common are these issues? Not common at all!  There aren’t any statistics on my specific situation with the iso-immunization, every article or medical journal I’ve found just basically says that the way it happened with me just doesn’t happen, then doesn’t discuss it further. The doctor said it was pretty much unheard of.  No explanation other than the fact that God planned it that way!   The type of Skeletal Dysplasia that the doctor thinks Barrett has (and there’s no way to know for sure until later) has statistics of about 1 in 26,000 to 1 in 40,000.   Between these two issues, we hit the genetic lottery…in a backwards way I guess!

Is there something we could have done to prevent it? No.  Both have more to do with genetics than anything else. There’s not a thing I or my doctors could have done differently.  The only thing that might have changed it is if Nate or I had married people other than each other, and that’s out of the question (:

But haven’t both babies been really healthy this whole time? Yes, and they still are.  The Iso-immunization issue is putting them at high risk for complications, but has not started affecting them yet.  Because we caught it quickly, we will be able to act immediately if it does start affecting them.   The Skeletal Dysplasia has to do with the growth of Barrett’s bones in his arms and legs. Other than that, he is showing no signs of any distress or health issues.  Both babies have great heart rates,healthy organs, great blood flow, wonderful weight estimates, are extremely active, and are developmentally ahead of schedule (other than Barrett’s “long bones”).  Their overall health is still wonderful.

Why didn’t the doctors catch this earlier? They couldn’t have caught it earlier.  I was tested for the iso-immunization at the beginning of the pregnancy and it was negative. The positive result came back at a standard screening done at 28 weeks, and my regular doctor immediately sent me to the specialist to have it checked out even though the babies didn’t appear to be suffering from the side effects.  There were no outward signs or indications with me or the babies that would have made them suspect anything.  The Skeletal Dysplasia wasn’t caught earlier because it didn’t show up until the past several weeks.  Barrett’s long bone growth was completely on track with Noah’s up until 26 weeks, which is when it basically stopped…but we couldn’t tell that it had stopped until we had measurements to compare it to several weeks later.  So basically, the Skeletal Dysplasia was also caught at the earliest possible time it could have been noticed.  Neither was an issue of something being “overlooked.”    Thankfully, it is better for both of these issues to have shown up so late in the pregnancy, because it means they are less severe.

How did they diagnose both issues? The iso-immunization was done with a blood test, then by running a test to see what my “titer levels” were.  The SD was diagnosed through measuring the length of Barrett’s long bones (arms and legs).    Basically, the way a baby’s size is estimated is by measuring the head, stomach, and femur (thigh bone), then the computer averages it all out and tells you how much the baby is estimated to weigh.  They have been doing those measurements every few weeks throughout the entire pregnancy.  They normally don’t do measurements more than 2-3 weeks apart, because if you do it closer together than that, it can give you a bigger margin of error.  They did the measurements at 26 weeks and everything looked good.  At 27.5 weeks, they ran another measurement check (although normally they dont do it that close together).  They noticed that Barrett’s femur was still measuring at 26 weeks.  At that point, it was too soon to tell if it was because the bone had stopped growing or if it was an error because of the two measurements being taken only a week apart.  The tech made a note of it and said we’d check it again in a week or two, when we could get a much more accurate measurement.  In the meantime, they found the iso-immunization issue and scheduled me to meet with the specialist.  Since his equipment is so much better, they let him run the measurements instead, and he was able to tell that there was definitely an issue.  He did full measurements on all of the long bones (along with a bunch of other things) and found that they were all still measuring at 26 weeks, while the rest of his body is measuring on track at 30 weeks.  Based on all of these markers, he seems to be presenting with a classic case of a mild type of SD.

Are either of these issues life-threatening? We do not have a high risk of them being life threatening, although some of the more severe cases are.  Since they both started late in the pregnancy, our risk is MUCH lower.   And because the monitoring will catch it if their blood starts being affected, we can intervene before it poses a significant risk to either of the boys.   Most likely, the worse-case scenario for us is early delivery and/or blood transfusions, which they should recover from completely within a few weeks’ time.    With the SD, the threat depends on exactly which type is present.  There are some types that are extremely severe and many babies don’t survive.  However, the severe types usually present early in the pregnancy and have alot more indicators and markers that show up on the ultrasound.   The kind that they think Barrett has is mild and has a very low risk of being a threat to his life.   Of course, their risk is slightly higher than the average baby, but the doctor assured us that it is not high enough for us to start really worrying about it.  They are fully expecting us to deliver 2 healthy boys, all things considered.

How will they decide when to deliver the babies? They are monitoring me every few days, and as soon as it becomes safer for the boys to be outside than inside growing, they will deliver.  Hopefully my body will remain safe enough for them to get to 35 weeks or so, which gives them the best chance of being able to breathe on their own.   They won’t allow me to go past 36-37 weeks, because at that point it is safer to deliver them than to continue to expose them to the risk of the antibodies.    Our immediate goal is 32 weeks, then we will try for 34-35.  Hopefully all 3 of us will make it that far!  My regular doctor will still be the one delivering, but the specialist is the one who makes the final call on the decision to take them early or not.

Will there be any long-term effects? With the iso-immunization, probably not.  They might need some special care right after delivery if we do end up needing blood transfusions, but once they are outside of my body, they will not be at risk anymore.   The only possibility we really have for long-term effects is through complications with blood transfusions, but those risks are the same as for anyone else having a blood transfusion…just the general risk for medical procedures.  For the SD, there will definitely be long-term effects if he is born with it, but they are all things that we will tackle as they come.

Is there a cure for either issue? No.  Now that the iso-immunization has happened, it will be present in any subsequent pregnancy.  Unfortunately, it only progresses with each one, so the risk level in the next pregnancy would be at least as high as this one, but probably higher, and the baby would be affected from day 1.  There is nothing they can do.    As for SD, there is no cure, only treatments for the symptoms and side effects.

What is the likelihood that Barrett will be born with SD? In our case, very likely.  The doctor says he often gives his patients a “worse case scenario” diagnosis, but that isn’t the case with us.  Based on the markers, it is extremely probable that Barrett will be born with it.   He didn’t give me a percentage or anything, but said that he would be surprised if he ended up being born without it, and that we should go ahead and expect it.  Of course, there is always a possibility that he doesn’t have it.  We know that God could jump-start those little bones and make them grow and catch up with the rest of his body.  We won’t know for sure until after he is born, but with such a text-book case and diagnosis, we will plan for it and then be pleasantly surprised and excited if he is born without it.

Will you be able to tell immediately when he gets here? We don’t know.  There is a good chance that even if he does have it, it won’t be readily obvious just by looking at him.  The difference in the length of his long bones may not be enough at that point to really notice it, but it will become much more noticeable as he grows.   They will do xrays and everything when he is born to get a better idea, but it is up in the air as to whether or not we will have a definite diagnosis at first.  More than likely, we will have to see a geneticist along with some other specialists to determine his exact diagnosis.  It may take several months before we know anything for sure.

So will he look any different when he is born? Probably not much, if any.   You might be able to tell a little, but if his case is as mild as we are hoping and expecting, then it will be a gradual change as he starts to grow.  We might not even be able to tell them apart at first, depending on how much they look alike!

Will there be other side effects apart from just a smaller frame as he grows? Probably, but that will depend on exactly which type of SD he has.  Alot of the mild cases still have issues that come as a result of delayed or disproportionate growth, such as respiratory, ear/nose/throat issues, spine issues, joint issues, etc…. because if one area of growth is off in your body, it tends to affect other areas as well.  For example, it makes sense that problems with leg joints might put stress and pressure on your back…because it’s all connected!   We might have to deal with surgeries or treatments or other issues, but hopefully they will end up being minor issues that can be treated and relieved without too much trouble.  But of course, this all depends on exactly which kind he has and how mild or severe it is.

Does all of this affect our plans for the mission field? No.  We still feel confident that the Lord is calling us to foreign missions.  If he also blesses us with a child who might need some special care, then we have no doubt that he has already planned a way to make those two things work together.  We just have to wait and see how this plan unfolds!

I hope this helps…. these are the first things that came to our minds, and the first questions we were asked by others.  If you have another question that I didnt answer, feel free to ask.  I am perfectly fine with talking about it, and I’m happy with helping everyone else feel as comfortable with it as possible.   Besides, you might come up with a question I haven’t thought of yet, in which case I’ll be passing it along to my doctor and finding out the answer!!

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