Martha, Age 29
Two years ago, I wrote an article for this newsletter detailing my experience with PA. At that time, I indicated we had just sent fibroblasts for mutation testing in an effort to help determine if my husband, Tim, was a carrier for PA as we were making decisions regarding having children. Thankfully, after almost a year, the test results came back showing that he was not a carrier. Thus began a journey that resulted in the birth of a beautiful baby girl, Grace.
My pregnancy brought with it both the expected as well as the unexpected.
Although I have enough specifics to fill most of this newsletter, for time’s sake as I have a little one lying on me (who will want to be fed soon), a (relatively) brief summary of my experience follows.
Like many pregnant women, I experienced morning sickness throughout the first trimester. However, unfortunately, this didn’t end then but rather continued for the rest of my pregnancy. In addition to the usual remedies for combating morning sickness, I was given Zofran ODT. The orally dissolving tablets acted immediately to counteract the nausea and prevent vomiting as the potential for metabolic crisis would increase with continued, frequent vomiting.
I knew all aspects of the pregnancy would be closely monitored but I was surprised, both pleasantly and unpleasantly at what this brought. Although I did everything I was supposed to, I was still impressed at how good my metabolic labs really were; I don’t think they have ever been that good. Granted, at times results were low or high necessitating a change in therapy. Most of these changes were expected as the pregnancy progressed to provide enough nutrition for Grace. An ultrasound at 18 weeks showed bilateral choroid plexus cysts and suspicion for a VSD (ventricular septal defect) which, if present, increased the risk the fetus had a chromosomal abnormality. At this time I opted for an amniocentesis to determine if such an abnormality was present. Since an amniocentesis was being performed, we chose to have extra amniotic fluid collected and sent off to have PA status of the fetus determined. Thankfully, all results from the amniocentesis came back normal. Four weeks later, another ultrasound elicited concern for IUGR (intrauterine growth retardation). Although on paper I should have been getting adequate calories, I increased intake nonetheless. After all, it couldn’t hurt… only help.
I expected the toughest part of the pregnancy for me would be to eat enough calories and protein for adequate growth. What I didn’t expect was just how tough it really was. At any time throughout the day, I knew how much protein I had consumed and how much was left. The need to eat more than usual and on a consistent basis was extremely difficult and only complicated by my nausea. To meet increasing needs of the fetus without consuming more than my body could handle, I began taking a medical formula as well at the end of the first trimester. The amount needed was increased throughout the pregnancy. As my mild condition has not necessitated the use of such a formula when in a non-pregnant state, starting this, while nauseous, was perhaps the most challenging aspect for me. Needless to say, the taste left more to be desired. I am happy now to look in our refrigerator and, when I see the formula container, know that it is Grace’s formula to take and not mine. If any formula company representatives are reading this, I would be glad to provide some input for suggested improvements! I am hoping some changes in regard to medical protein options available by the time we are ready to do this a second time.
Given the risks involved, plans for delivery were formulated early on. With the efforts of those involved, I expected a well-controlled delivery likely earlier than 40 weeks. However, I did not expect delivery to occur at 31 weeks. This followed admission to the hospital at 30 weeks with preeclampsia which significantly worsened over a week and resulted in a c-section. Despite the fact that it occurred earlier than planned, the careful planning and attentiveness to detail of those involved resulted in a delivery that was well-controlled.
At 1:03 AM May 24, Grace was born. Weighing only 2 lbs, 9 oz and 14 inches long she was immediately taken to the NICU (neonatal intensive care unit) while I was taken to the ICU for post-partum monitoring. Eighteen hours after she was born, I finally got the chance to meet my daughter. Because of medicine given upon my admission to speed up maturation of Grace’s lungs, she did not require any respiratory assistance after being born. (And, as anyone who has been around her when she is hungry can attest, her lungs work more than well!) She remained in NICU for 7 weeks, primarily for feeding and growing. Weighing over 7 lbs, looking at her now it is hard to believe she was a preemie.
The success of this pregnancy was in large part due to the exceptional care I received. The importance of a good perinatologist (high-risk OB) and metabolic team cannot be underestimated. In my case, I was fortunate enough to have the best in both specialties. To Sally Segel, perinatologist at Oregon Health & Science University and to Jon Wolff, Sandy van Calcar and the rest of the metabolic clinic at the University of Wisconsin Waisman Center – thank you for all you did to ensure the best outcome of life’s most precious gift. Yes I had to eat more than I ever wanted and work through nausea every day but I couldn’t have done it without you. I look at Grace everyday and think about how fortunate she and I were to have your expertise to guide us through this journey. We are truly blessed in many ways; you are just one of the many. We pray she will continue to thrive and look forward to celebrating both life’s big and small milestones with her.
To read Martha's previous story in the 2005 OAA Newsletter click here.
From the Summer 2007 OAA Newsletter