A baby girl is on her way!

That’s right. My husband and I are expecting a baby girl later this fall and at 24 weeks we’ve already given her the name Madison Grace!

Her announcement on PKU Parlor might help explain why I haven’t posted in a while. Finding out I am pregnant has been both overwhelming and wonderful at the same time. The editor in me wanted Madison’s announcement to be partnered along with some insightful advice for my blog readers, but to be honest, I’ve never felt as such a “newbie” towards anything else in my entire life. While working through all the normal questions and concerns that most women have with their first pregnancy (visiting day care facilities, finding a pediatrician, planning maternity leave, etc.), I’m also working through what it means to be expecting with PKU.

Me – sporting an 18-week baby bump – and my husband Brandon on June 14, 2014.

Me – sporting an 18-week baby bump – and my husband Brandon on June 14, 2014.

Longtime blog readers may recall after returning to the low-protein PKU diet in January 2013, I began a long journey filled with a variety of hurdles including the inability to keep consistent insurance coverage for my formula, the emotional impact of a dramatic hair loss, and the hunt for a medical team that was experienced and refreshingly optimistic about tackling maternal PKU.

And yet once I felt that all the pieces had fallen into place, conception was not something that happened instantaneously. Negative pregnancy test after negative pregnancy test eventually began to take a toll and I started to wonder if becoming a mom would ever happen.

Despite my skepticism, I was surprised to learn I was pregnant during a routine OB visit this past April. And when my first ultrasound determined I was more than 10 weeks along, I was even more surprised to learn I had nearly missed-out on my first trimester! …Certainly a perfect example for why returning to the diet prior to conception is so important.

In the weeks leading up to finding out the good news, my PKU clinic and I had been trying to figure out why my levels appeared to be gradually increasing despite no change in my daily phe intake (in hindsight, it was likely because my body was working hard undergoing massive changes to make a baby). As soon as I reported the pregnancy back to my clinic, the decision was made to drop my phe by 50 mg to 500 mg/day (or 10 gm of protein) and increase calories to a minimum of 2,300/day (more for those days when I exercised). Sure enough, the adjustments quickly brought my levels back down.

It is hard to believe it’s been 14 weeks since I first found out I was pregnant. I grin from ear-to-ear every time I feel Madison kick. Her acrobatic stunts are a constant reminder that all this hard work is so worth it!

In the coming days and weeks, I’ll share more of my experience as well as other PKU recipes and tidbits. I hope you’ll continue to stop by!



Filed under Maternal PKU

9 responses to “A baby girl is on her way!

  1. Tamara Beltz

    Congrats Nicole! I am so very happy for you. Maternal PKU cannot be easy.

  2. Hi Nicole,
    I commend your efforts and hard work in achieving metabolic control. This will translate into a beautiful and healthy baby girl, congratulations and you offer inspiration and hope to a very specialized population of PKU adults who I believe are under-represented and underserved. The women of child bearing age who have PKU face special challenges and assume more risks in having a healthy baby and have serious, unmet critical needs. There should be more focused attention to the PKU adults, especially when an inordinate number are not being actively treated in a metabolic clinic. I can identify with the dietary challenges and maternal PKU, and have 3 beautiful children (nonPKU) that are testimony to the power of the phe-restricted diet. I would like to share with you comments I submitted to Cambrooke Voices in response to a July 2014 blog post titled, “Inspired Guilt.” The article draws inspiration from children, so much so as to motivate the author to experience for himself a walk in the life of a PKU patient and place himself on the PKU diet for a 2 week period. While I commend these efforts to engage and connect with the patients, only those who are on the front lines know what the PKU experience is all about because they live and breathe PKU every day of their life. I come from a generation of early treated PKU adults that have a unique history and experience of living with PKU that transcends generations within a changing social, scientific and political environment. This includes generations of medical and research experts that have retired or passed on, generations of families that seek hope and a better future for their children – either with a cure or alternative treatment options, and within the context of a political environment – generations of Congress and policy makers that have refused and denied access to treatment that spans a trail of decades of denials. A devastating legacy remains by those who fail to appreciate treatment takes the form of a diet with provision of medical food – not a drug, not a food – but terms that have blurred the boundaries on what constitutes a food or drug since its evolution. The adult generation has become medically disenfranchised by those who fail to appreciate the clinical significance of dietary treatment that saved my life – and my children’s lives, but continues to be denied.
    I am forwarding my comments to you in response to “Inspired Guilt,” which walks the reader through my real life experiences with maternal PKU and brings you up to the modern day challenges PKU adults have faced – and which is where my advocacy efforts draw from a different kind of “Inspired Guilt.”
    Please see below for consideration to share with your followers in response to http://cambrookevoices.com/2014/07/21/article-4-inspired-guilt/#comments
    In response to the PKU Diet Challenge, I’d like to task you with a bonus assignment. Now that you have your prescription for your diet, individualize the plan to meet a new, and changing metabolic need. For extra credit – you are pregnant. Now, cut that daily phe allowance in half. How do you feel? Happy? Anxious? Alone? Afraid? What are you going to eat?
    First trimester
    Your hair is falling out. Why is this happening to me?
    You just started a new job, and now have to balance many medical appointments with a rigorous schedule. Your supervisor put you in the oncology satellite to train……….you are pregnant and know about the risks of handling toxic drugs on offspring. What do you tell your boss? You just got hired. How do you manage the diet at work? How not to create discord with colleagues, you must co-exist and share the work, but request exceptions to be made.
    On the home front – there is backlash from people you expect to support you with your happy news, but they fall short of inspiration, even your OB – out of fear that this is a choice and a road they would never traverse given the unique circumstances, risks and past medical history.
    You cannot get sick, you are on pins and needles………you work in a hospital and are exposed to an environment that poses many risks. A fever is all you need to push those phe levels up. Teratogenicity is a serious threat. What will happen to the baby?
    Second Trimester
    You plan a vacation to get away, but the clinic calls and advises to stay close to home due to the most recent phe level. You cannot relax, you worry – is this acute, what does this mean? How do I adjust the diet again? What is to become of the baby? What is up with fluctuating phe levels?
    Now, your OB refers you to maternal fetal medicine. There is an aberrant result on a test, they want to rule out PKU even though you have maintained control. You undergo ultrasounds and are under hyper vigilant cameras – photo after photo after photo of the baby are taken in search of an unknown etiology and underlying cause of the new problem.
    What have I done? What is wrong with the baby? Why don’t the doctors do anything? They can’t………..they have found nothing wrong. The specialists that I have been referred to do not even have the experience treating such a specialized population of women – welcome to Maternal PKU and breaking new frontiers.
    Third trimester
    The time for delivery comes. My nutritionist is there while I am in active labor. I can’t describe the thanks and appreciation for her to be there, every step of the way, even from pre-conception – she came to my house to plan menus and work out a regime that worked for me within the narrow, therapeutic index for acceptable phe levels. I never thought this day would come……… all the hard work, and now the baby is about to make a debut.
    Why am I such a spectacle to this medical team? There are 30 people in the room……….midwife, family, students, nurses, anesthesia in and out……..where the hell is the doctor, it’s been hours? I’m in too much pain again.
    Labor goes on forever ………the baby is taken from me immediately and held overnight outside my room in another ward, he is under much scrutiny. He’s under the bili lights, jaundiced, and was kept on heart monitor overnight. They are looking to find something wrong with him……..that is what they are trained to do in dealing with high risk populations. What the hell is wrong? Why won’t they discharge us already? I want to be in the nursery with him ……..got the flu now, need protective gear to go in. I want to go home.
    My metabolic doctor arrives to examine the baby……………the only ray of hope I had these couple of days, and she brings great news, “he looks wonderful.” This is the only positive news I have had throughout this entire hospital stay. Nobody has catered to my therapeutic diet, should I stay committed to this diet post discharge while they are testing newborns with the same screening test that saved my life?
    Now, the newborn screening tests begin, multiple for him – to eliminate bias with the labs. He does not have PKU. There is nothing wrong.
    Go home and start your new life.
    Flash ahead 8 years…….your son finds a can of Lofenalac in Pop Pop’s basement. It is very dated, obviously, and misbranded – according to today’s standards with still having labeling for the Rx legend. A light bulb moment goes off …………you recall throughout the pregnancy the extra challenge you faced across many months: your insurance company erroneously billed all your claims, you were stuck with hundreds of dollars lost in overcharges, you had more difficulty reclaiming the money than managing the phe restricted diet, treatment is so expensive……….you got resourceful, sucked it up and were forced to find a way to afford it and get through the pregnancy. You were already financially strained having cut back hours at work, and were so emotionally charged – with anger and rage fighting off insurers, not to mention dealing with the pregnancy hormones.
    You look at your son – you survived, he survived and continues to thrive. You are blessed with two more children. But what about the other adults who still struggle to this day with reimbursement? What has happened to the Lofenalac generation? You were strong, many do not have the capability to fight and are in great need.
    I look at my son and think how many generations is this problem going to span…………it plagued my parents when I was a child who were denied coverage for Lofenalac, “the drug,” and as per BCBS – because it was used for weight loss and weight control. To this day, medical foods are still being reimbursed according to unit of calorie. Now, my parents are grandparents. I look at my own child, it is time to shape the future for the better and not perpetuate the problems of the past, but to solve them out of another source of “ inspired guilt.”
    Jennifer Payne http://www.pkupioneer.com

  3. Dear Nicole,

    congratulations 🙂 I’m so happy to hear this ❤ All the best!!!!

    Katie xxx

  4. Pingback: Calories – Why you’re not just counting phe during maternal PKU | PKU Parlor

  5. cool! congratulations! I’m expecting my 2nd baby in spring 2015 🙂

  6. Pingback: Home Blood Phe Monitor: A PKU Pregger’s Dream | PKU Parlor

  7. Amanda

    Congratulations Nicole!!! That is so awesome!!!! So happy for you and your husband! Also, just wanted to let you know that I sent you a friend request on Facebook, my name is Amanda Shipp. Would love to talk with you about your PKU experiences and advice, etc. thank you again for your posts, they have been very helpful for me!

  8. Thanks, Amanda!! I’m hoping to post more soon about my pregnancy (especially now since I’m approaching 34 weeks). I definitely want to connect on Facebook and stay in touch. So happy that you reached out!!


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