Monday, January 8, 2018

CHD1? What the hell is that?

The day I found out about this CDH1 mutation was the day I was diagnosed with it.  

I agreed to genetic testing because there is significant prevalence of breast cancer on my mother's side of the family.  I was 100% ready to find out I was BRCA positive.  My initial results came to my house via the mail and stated I was BRCA negative.  My husband was very excited and couldn't understand why I wasn't feeling the same.  I didn't know how to explain it at the time, but something just didn't feel right about it.  

When I actually read the report it stated I had a variance of unsignificance in my CDH1 gene, which at the time I had no idea what that meant and just pushed it aside.  Just a few short weeks later I received a call from my gynecologist's office, my genetic testing ordering physician.  They stated I needed to get a mammogram as soon as possible and to set up an appointment to see my gynecologist as soon as possible.  This worried me...what did this mean?  The earliest they could get me in for an appointment was 2 months away.  So I patiently waited for the time my husband and I would sit down with my doctor - because we had a feeling it was not going to be positive news.  The appointment day finally came and my doctor states "you have a genetic mutation called CDH1."  I"m thinking, what the hell is that and what the hell does it mean?  She told us it increases the chances I have to getting gastric (stomach) cancer.  I immediately started crying as this information started bringing up all sorts of emotions and memories of the time surrounding my dad’s stomach cancer diagnosis and death.  

When my dad died from stomach cancer 10 years ago the doctors assured us it was not genetic.  So I’m feeling completely blindsided.  My doctor didn’t have much else to say because she didn’t know too much about this genetic mutation.  She assured me she will find a genetic counselor who will be able to educate us more and have recommendations for screening and such.  I went home after this appt and honestly didn’t think much about it.  I felt I just need to wait to get the contact info for the genetic counselor and go from there.  There was nothing I could do at this point so why stress about.  So, that evening was per usual with the kiddos and getting ready for work the next day.

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