06 May 2010

Genetic Family Tree

Finding out Bennett has Cystic Fibrosis was such a shock to us.  No one in our family has shown any symptoms of the disease.  How could CF elude 4 generations, more than 100 family members and recent memory (no one can remember anyone who has died who would have suffered from CF)...only to rear it's ugly head now?

In a random twist of events, we recently discovered that Bennett's maternal great-grandmother is a carrier of Cystic Fibrosis.

Grandmom, as she is called, was recently tested due to her own pulmonary/sinus issues that have caused her to need a daily nebulizer and Albuterol medication (a medication Bennett also regularly uses).

Fortunately, Grandmom does not have CF...but she is is a carrier for the disease. To be a carrier of CF, one must have one CF gene mutation. Both of us, as well as Oliver, are carriers of CF. However, none of us show any symptoms.

One must have two gene mutations to show symptoms and be diagnosed with Cystic Fibrosis.

Bennett's gene mutations are DF508 (also called "Delta F508) and 621+1G->T.  It turns out that Grandmom is a carrier of the gene mutation 621+1G->T.

Since we have discovered this, we have been able to deduce our own mutations.  If Breck's grandmother is a carrier of 621+1G->T, then we know Breck's mother is also a carrier of 621+1G->T, and Breck as well. 

Therefore, this means that Brian is a carrier of D508.

In some ways, this is not important.  It certainly doesn't take away Bennett's illness.

But in other ways, this is such fantastic news.  Now, we know our own gene mutations, which satisfies our own natural curiousity. 

In additon, it helps us better understand which family members CF mostly affects and which ones it does not (such as Breck's father's family).  And, when looking back into family genealogy, it helps us consider if there were deaths in Breck's grandmother's family due to CF.  

How fortunate we are to know such valuable information!  How many kids know their great-grandmother and they share their gene mutation?  Talk about passing that down.

1 comment :

  1. If you're interested in researching it further, the Missouri death records from 1910-1959 are available online at

    This is only helpful if most of your family is from Missouri. They often tell the cause of death. I'm not sure how early doctors could diagnose CF, but someone with lung issues contributing to their death might give you a clue to other family links.

    Leslie Dingman-James


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