Trisomy 18 and Genetic Disorders

Trisomy 18, Genetic Disorders, and Personal Decisions

Trisomy 18 is in the news.  I was shocked to read that Rick Santorum's three year old daughter has this rare genetic disorder. 

 

I admit that I do not know much about Rick Santorum.  I have not been following the Republican presidential hopefuls but there's no way to avoid hearing some of what's been going on. 

 

My belief is that if you want to know what someone stands for, listen to what they say; observe their actions; hear what they have to say when they are under pressure. 

 

I went straight to Rick Santorum's website and looked up what he had to say about Family Values.  Since I'm not here campaigning for or against him, we'll just skip the whole abortion conversation.  Come to your own conclusions about that one or read his website yourself.

 

Taking a Stance on Genetic Testing

What I found interesting is the non-stance about genetic disorders, genetic testing and treatment.

 

Here's what I learned about Trisomy 18.  It's a matter of having three copies of chromosome 18 rather than the two that one is supposed to have.  Having three copies of chromosome 18 leads to mental retardation, physical and organ problems, and more.  Often, children with this chromosomal defect do not live past their first birthday.

 

My heart goes out to Rick Santorum and his family.  Having a child that seriously ill can be devestating to a family.  How wise of him to have taken some time off to go and spend with her.  I wish their family all the best and hope that his daughter recovers quickly and with as little pain as possible.

 

He and his wife may not have known about their daughter's chromosomal defect.  Maybe they did.  I know one thing.

 

It's not my business. 

 

Preserving Pre-Genetic Testing Options

It's not my business to dictate to someone else how they should use the pre-genetic testing that is available, such as preimplantation genetic diagnosis or PGD.  That is a personal decision that we should all be free to make.  This is a decision we are all free to make, at this time, legally. 

 

I am sending my best wishes and love to the Santorum family.  I hope that when he returns to the campaign trail, he remembers that each family should continue to be able to make personal medical decisions that align with their values and morals.

Topics: PGD

Lisa Rosenthal

Lisa has over thirty years of experience in the fertility field. After her personal infertility journey, she felt dissatisfied with the lack of comprehensive services available to support her. She was determined to help others undergoing fertility treatment. Lisa has been with RMACT for eleven years and serves as Patient Advocate and the Strategic Content Lead.

Lisa is the teacher and founder of Fertile Yoga, a program designed to support men and women on their quest for their families through gentle movement and meditation.

Lisa’s true passion is supporting patients getting into treatment, being able to stay in treatment and staying whole and complete throughout the process. Lisa is also a Certified Grief Recovery Specialist, which is helpful in her work with fertility patients.

Her experience also includes working with RESOLVE: The National Infertility Association and The American Fertility Association (now Path2Parenthood), where she was Educational Coordinator, Conference Director and Assistant Executive Director.

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