Charles was part of His plan for me

In earlier articles, I have written about the guilt I feel for passing along the defective gene to my daughter. I did not know that I had Kennedy's Disease when she was conceived. All I knew is that we were having a baby and we could not be happier. Yet today, because I was the reason my daughter became a carrier, it still bothers me.

Today's article is a guest post by Tiffany who is a carrier of the mutated gene. She is also a young woman who wants to experience a normal life including having children. She grew up watching the affect that Kennedy's Disease had on her grandfather. Now, being a carrier, she was struggling ... wondering whether she should bring a child into the world that also might have the defective gene. This is her story and her search for an answer.

Charles was part of His plan for me

When asked to write an article about the concerns of being a Kennedy's Disease (KD) carrier, I found it difficult to write without addressing some controversial issues. What follows only begins to scratch the surface of my feelings and experiences as a carrier of Kennedy's Disease.

In the spring of 2005, I found out that I was a carrier of Kennedy's Disease. The first thing that came to mind was my future family ... what were my options? I always wanted kids; however, I grew up watching my grandfather slowly fade with Kennedy's Disease. The National Institute of Health, as well as, many organizations offer genetic counseling for those who want to learn more about your chances of having a child with Kennedy's Disease and what steps may be taken to avoid having a child with KD. The genetic counselor explained to me that one of my two "X" chromosomes has a longer repetition of CAG.

So, if the mother is a carrier like me, the following possibilities exist for her offspring:

• 25% chance that she will have a girl that will be a carrier of KD
  
• 25% chance that she will have a girl with no links to KD (healthy genes)
  
• 25% chance that she will have a boy that will have KD
  
• 25% chance that she will have a boy that will have no links to KD (healthy genes)
  

 
Given these odds, I felt heartbroken and had to do a lot of soul searching and research. Every couple that is faced with the fact that they have Kennedy's Disease in their family will have to deal with this harsh reality.

The Genetic counselor explained that being a carrier of KD is not the end of the world and that I had options. Preconception options include in vitro fertilization or IVF, egg donation, and pre-implantation genetic diagnosis or PGD. This is when doctors can test healthy eggs and select the embryos that are from the X chromosome not containing KD. These healthy eggs can then be used in the IVF process. If a woman would prefer to become pregnant naturally, there are other options available including testing a fetus to see if it has the defective gene. These include ultrasounds, chronic villus sampling (CVS), and amniocentesis. Ultrasounds can be used to determine the sex of the child eliminating the chances of the fetus developing KD. CVS and amniocentesis can determine gender, as well as, test the child for the lengthened fragment associated with KD. These tests then can be used throughout the pregnancy to examine the unborn child. Another option all together was adoption. There are support groups for parents who are faced with these different options; however, everyone will have to make their decision based upon their own beliefs and thoughts.

In the summer of 2007, I found myself in the position of being unexpectedly pregnant. I was a thrilled yet concerned about my unborn child. I chose not to have any of the tests done on my baby during pregnancy due to the risks the tests presented. My husband and I also discussed that if the tests came back positive we would not terminate the pregnancy, so there was no reason to take these risks. In January 2008, I gave birth to our beautiful baby boy. 

Sometimes I feel guilty knowing that I might have passed along the KD gene; however, I would not have it any other way. During the last couple of years, I have come to the realization that you have to have faith in God and in science. Kennedy's Disease has only been recognized for less than 20 years. During this time, huge advancements have been made to understand the disease while looking for a treatment. Call me naïve, but I believe God gave me this child for a purpose; and I believe He will do what He can to protect my baby and myself from pain and suffering. God has a plan for each of us and I believe that having my baby, Charles, was part of His plan for me.

For more information about Genetic Counseling, please click on the following links: The National Society of Genetic Counselors, the National Institutes of Health, or the Kennedy's Disease Association.