Reduce the risk of genetic diseases before pregnancy with a DNA test!

So, I know this isn't a typical Christmas season post, but I wanted to share it with all of my readers. As you know when Jeff and I planned on starting a family we had no idea that we were carriers for the disease that has now changed our lives forever. We love our son with everything we have, and know that Jesus loves him even more than that, but if we had know we were both carriers we may have made different decisions about how to build our family.

An affordable way to be tested as a carrier of many genetic diseases is now available. Many insurances will cover the testing, and if your insurance doesn't the test is less than $400 to screen for over 100 diseases. Please note - it usually tests for the most common mutations, and therefore cannot be a guarantee to detect ALL possible genetic mutations that you are a carrier for, but if you are considering having children, I would HIGHLY recommend looking into the test. You can check out the website for Counsyl for more information.

In our situation, if Jeff and I had both been tested prior to us beginning to build our family, the test would have been able to tell us that Jeff is a carrier of the G843D mutation. This mutation is one of the two most "common" mutations that are associated with PBDs. However, since the mutation I carry is a much more rare, the test doesn't screen for it. With the information that at least one of us was a carrier of a fatal disease it could have given us more options such as doing more extensive testing for me, etc. before trying to get pregnant, or preparing us for the possibility of a special needs child, or consider adoption as the path that we would build our family.

Please do not take this post the wrong way. We love Ethan! We know and believe that God has a special plan for our little man and for us as his parents. Plus, if we had "found out" during my pregnancy that our baby was going to be "sick" we would NOT have aborted our baby, but we would have been able to try to prepare ourselves and our families for the diagnosis. Please know that when our OB mentioned the "common" tests that are often done during pregnancy - for example testing for Down Syndrome or Cystic Fibrosis, I cried in her office - letting her know that we would love our baby no matter what!

I simply want to put this information out there because it may help someone make a more informed decision about how they want to build their family. Jeff and I know that we aren't willing to take the risk of a "natural" pregnancy again, so when the time comes, if the Lord leads us to have additional children we plan on adopting. For other families who find out they are carriers of genetic disorders they may make other choices such as: Preimplantation Genetic Diagnosis (PGD) with in-vitro fertilization (IVF); donor egg or sperm; or preparing themselves for the possibility of having a child with a genetic disorder by knowing their chances of having a child with the disease.

I know that some people may not agree with this proactive approach prior to pregnancy to know the risks of having a child with a deadly disease, and that is okay. But to those of you who are thinking of building your families (even if you've had healthy children before) you might want to consider getting carrier testing done.


  1. Pam,
    Thank you for sharing your journey with Ethan. I cannot imagine how difficult it must be to go through this with your beautiful little boy. Our little Lily was oxygen deprived when she was born and spent the first 8 days of her life in the St John's NICU, and the time that we spent there really opened my eyes to the challenges and pain of having a child with an illness.

    Reading through your blog, I am so glad that you have such strong faith to strengthen and sustain you. Ethan is lucky to have such a good mom, and I am sure that you feel blessed for every day that you have with him.

    I will be praying for you, Ethan and your family. God's Peace - Megan (Holt) Swanson, AXO/MU Class of 00

  2. I think this is a terrific post. The most important thing is that everyone has as much information as possible to make the decisions that are right for them. I think it is great that you are making people aware of the testing that is available and the options they have.

    Love Always,


Post a Comment

Popular posts from this blog

Faces of Peroxisomal Biogenesis Disorders

#PauseForPBD -- October 5, 2017

2017 GFPD Conference Recap