Planning your pregnancy is key when you have a genetic disorder

Nov 19th 2007 Landon's Birthday

Nov 19th 2007 Landon’s Birthday

My son just celebrated his 8th birthday and I thought, “Damn, I am old!” No, not really, it instead got me thinking how unconventional my pregnancy actually was. Most of my friends are surprised by the news they were expecting and for them that’s ok. For others, including myself, extra care and planning must come into play before you conceive.

I have a genetic disorder called Phenylketonuria, PKU for short. To keep it simple, my body doesn’t break down protein correctly. For pregnant women with PKU, it is essential to maintain low Phe levels, which happens when you limit the protein you intake. Without proper treatment before and during pregnancy, developing congenital heart disease, growth retardation and microcephaly are just some of the concerns you face.

At our pre-conception appointment at the Maternal Fetal Medicine Clinic at Women & Infants, the doctors gave us a round of applause. Literally, clapped for 1 minute while we stared in disbelief. They wished other perspective parents who had genetic concerns would come in sooner like we had. Thanks to screenings such as Horizon genetic carrier screening, more couples at risk of having a child with a genetic disease are being detected earlier. This allows for diagnosis in the newborn period, prenatally and even pre-conception. To learn more about the benefits of Horizon genetic screenings click here.

genetic carrier screening

For 7 months prior to conception, I was poked and prodded weekly. I ate only 3-5 grams of protein a day from natural food. The rest was medical food that tasted like cardboard! Now that I think of it, I think actual cardboard might have tasted better. I drank a putrid amino acid formula and took 100 pills a day! I HATE pills period. Even at 32, I still ask for some medicine in liquid form. Finally, my Phe levels were safe. Although my levels were “safe” for a fetus, it did not mean our child would not inherit PKU. However, the chance was indeed lower.

Like I said before, some people plan in advance to start their families – for some, it’s a big surprise! When you’re thinking about starting your family, your doctor will often ask you about your family history. Since I am adopted, I don’t much about my family medical history. However, I am so thankful I did know about my PKU, which made me pro-active in my attempts to start a family. Did you know there might be surprises in your family tree? Genetic carrier screenings can help you make informed reproductive decisions as you start your family.

Because of my PKU, a genetic carrier screening was done to uncover a more accurate percentage that my unborn child would have PKU. At our genetic screening we learned our son could be born with a heart malfunction or cerebral palsy, among other things. I didn’t know it’s common for people to be carriers of 4-6 different recessive genetic conditions.

Flash forward to Nov 19th 2007; Landon John Friedman was born without PKU, although he is a carrier. This journey tested us physically, emotionally and financially. It was the journey of a lifetime, for it brought us to Landon. The moment you decide parenthood is for you, take control of your future pregnancy. You can never be too-informed, especially when it comes to the health of your unborn child.


 Namaste ~ Joy ( Landon’s Proud Mom)

Disclaimer: This is a sponsored post. However, all thoughts and opinions are my own.

10 things to tell a woman before she has a baby

10 Things to tell a woman before she has a baby

1. You should relish in the fact that you can go on a 4 hour road trip and hold your urge to use the bathroom. Really.

2. Next time you see a mother sneeze and not cover her nose, don’t roll your eyes. She had to make the hard quick decision to tighten her legs or cover that nose…..I always pick the first…’s a hard decision you just have to live with!

3. Enjoy those perky little things on your chest! After a baby, invest in a really nice push-up bra…..or don’t…….either way- Enjoy them NOW!

4. You look gorgeous in that designer silk  blouse, white pants and high stilettos! Learn to embrace black yoga pants, flowy cotton shirts and slip on boots- it’s your new uniform!

5. Gas & heartburn. Welcome to your new Reality. If you experienced these before, well then, get ready for some an insane firework display to happen inside of your body. Have fun!

6. If you want a clean house, hire a maid. Or plan on cleaning every night when the moon is high, the babies are silent and you are practically dead. Zombie-like dead.

7. Invest in stain remover. I repeat, invest in stain remover. Pronto!

8. Eating a quality meal consists of being the official taste taster of all the food your baby consumes. Yum…….bright orange carrots that taste like shit…..Delish!

9. Grocery shopping (alone) is the best thing ever. If you can score a Target shopping trip- well my lady friend, you just won the mommy lottery!

10. Prepare to be so overwhelmed, filled to the brim with love, tired, grumpy, overjoyed the next minute and willing to embrace all the challenges and rewarding moments that come with being a mom!

What do you wish someone told you (honestly) about what to expect when you were expecting????? Share- I would love to know!