Elizabeth

Isovaleric Acidemia

On September 29, 2005 at 5:41 am, Kent Robert joined our family.  He has born a healthy baby weighing in at 8 lbs 11 ounces and measuring 22 inches in length.  He has been such a happy baby and is so patient with his parents who admittedly only have some small idea of what to do with such a little infant.  Within a week and a half of his birth however we received the results of his newborn screening and happily everything came back negative.  He really is a nice happy, and perfectly healthy baby and even the doctors agree!  Now at this point you might be asking yourself what is an article about a healthy non-OAA baby doing in this newsletter?  Let me go back.

My name is Elizabeth also sometimes known as Beth and I have Isovaleric Acidemia.  Many of you might have heard of me and my story previously, but just in case you haven’t, let me give you a brief summary.  I was diagnosed when I was 8 after a couple of very serious hospitalizations, during which I experienced all the usual signs of acidosis.  After my diagnosis I was put on a low protein diet, and formula, and so far my IVA has been pretty well in control since.  In 2003, I was married and I graduated from Brigham Young University with a degree in Physics Teaching.  Since then I have been teaching high school and enjoying our new home in Connecticut.  Just this last month I delivered a healthy little boy who I am happy to say does not have IVA and this article is a bit about my experience during pregnancy and how it all worked out. 

When my husband and I first got engaged, my mother insisted we go and speak with my metabolic doctor at the time and consult with him about having children in the future.  Our visit with him was very encouraging as he assured us the chances that my husband was a carrier was like 1 in 500,000 and so our chances of having an affected child with IVA was slim to none.  We were also told that previous to any pregnancy I should get more serious about my formula and carnitine intake (which I have always struggled with).  Once we moved to Connecticut we were thinking more and more about starting a family so I made an appointment with the Genetics team at the University of Connecticut. They also expressed the same opinions as my previous doctor, so we were assured that it would be safe to proceed. 

In January after being perfect with my formula for over three months we discovered that I was pregnant and we were excited!  Immediately I made an appointment with an Obstetrician to consult with him and get him and his group on board with the IVA.  Much to our delight the initial OB we met with had a nephew with PKU which although not essential to his understanding our situation, did help break the ice a little.  I tried to provide him with all the literature my mom could find on IVA and pregnancy, which wasn’t much, and we proceeded from there.  He got in touch with the Genetic team and it was decided that this would be treated as a normal, not a high-risk, pregnancy.  Meanwhile, all the things that go along with being pregnant started to happen to my body, including morning sickness.  I have to admit that on a scale of 1 to 10, I really wasn’t that sick, but I would probably put it at a 5.  I struggled with just nausea at first, but then I started throwing up.  The first thing to really unsettle my stomach was my formula.  Now I’ve never really considered myself to mind the formula, I usually drink it super concentrated and unflavored just to get it over and done with.  However, being pregnant it seemed to be the one thing that I detested (that and cheerios).  There were some days that I joked I had tasted my formula 3 times that day, as opposed to the regular once like I was used to.  The only remedy to this was that I just tried to take it in the afternoon or evening and avoided those early morning hours.  I also found that on some days I just wouldn’t have all of it.  My husband commented once that I would get to a point where I was ok then I would force myself to finish the rest of the formula and it was when I did that, that I was unsuccessful at stomaching any of it.  All in all morning sickness was easily managed with the usual taking hard candies and plain crackers to work, and thankfully after three months I was mostly cured of it. 

Once I entered the second trimester, morning sickness subsided and I also regained a lot of my energy.  I also got more tolerant of my formula, though I still had to be careful not to have it first thing in the morning.  Also because my stomach could handle it, I increased my formula intake to meet the baby’s growing needs.  In addition, I got to increase my protein intake from normal foods .  Instead of just having one serving of a high protein food a day I got to have two servings!  I really grew to enjoy my bagels with cream cheese, yogurt,  ice cream, and grilled cheese sandwiches.  The only other thing that pregnancy affected in regards to the IVA is that now instead of being wary of formula in the morning I had to be careful of having it at night, due to indigestion. 

The second trimester flew by and next thing I know it was third trimester and I started thinking more seriously about the birthing plan.  I met with my team of metabolic specialists (namely the nutritionist and the MD), and they put together a plan of action for when I went into labor and faxed it to the OB so they would have plenty of time to review it.  Once again my protein intake was increased after blood tests indicated my leucine was low, and other blood levels were good.  I was fortunate that all through the pregnancy I never became anemic, the formula provided well for my iron needs.  The only other thing of significance during the third trimester was that due to my pregnancy peaking in the summer I suffered from extreme swelling.  However, even though I was very swollen, I never did develop high blood pressure or toxemia. 

On September 28, 2005 I went into the hospital to be induced (something that was not part of the birth plan, it just worked out that the baby was showing to be very large in the ultrasounds and my mother was in town and wanted to be sure and see the baby before she went home).  The day before I went in for a non stress test and while I was there the nurses reviewed the protocol for the next day.  As soon as I was admitted I was given an IV, one with the pitosin for the induction, and one for the D10 mixture with Carnitine in it.  Every four hours they checked my ammonia and ketones and as far as metabolics are concerned labor went quite nicely.  Only once did the ammonia levels rise and that was quickly solved with a slight elevation in the amount of D10 given.  In the end I am happy to say that even though I was in labor for 14 hours, then had an epidural, pushed for three hours, and ended 20 plus hours later with a Cesearean Section, the IVA played no part in the labor and delivery process and everything was great.  After delivery I did have some trouble keeping down food for a bit as the anesthesia wore off, making the D10 IV crucial but once that passed, even the recovery went smoothly!

The first week after Kent’s birth, I had to really cut back on protein so my body could handle all the reabsorbing that happens after childbirth.  Five weeks later, I am now on a slightly elevated low protein diet to allow for additional nutrients needed for nursing.  I feel great and as far as I’m concerned IVA is something that we had to be mindful of during this whole process but it certainly did not hinder anything or complicate things too much.  Once again proving that even us weird OAA kids can have normal lives!!!
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Elizabeth, 23 IVA
Mother of Kent (Unaffected)