Monday, January 28, 2013


Last week I mentioned that Judith's CF team knows what all of her mutations are, and we now have that information as well.  Naturally Judith has to go against the grain, so to speak, and have a mutation that doesn't have a lot of information attached to it.  Frustrating for sure, but we at least have some answers and can kind of get an idea of what to expect with her future.

As you already know, the mutation that we knew about from the beginning is DF508.  It's the most common mutation, and about 90% of the CF population has at least 1 copy of it.  It causes pancreatic insufficiency when paired with another mutation that also causes pancreatic insufficiency.  This was the mutation that the state mandated newborn screen detected when Judith had her blood drawn and sent to the lab while in the NICU, and it's the mutation that we knew about before we even got pregnant as it was discovered in our lab work when we met with the reproductive endocrinologist while undergoing infertility testing.

Anyway, after running her genetic screening after her sweat test confirmed she has the disease, they discovered that she is carrying 2 more mutations: M470V and Q1463.  M470V actually does not cause CF when paired with another mutation that causes CF, so while it shows up on the test it's not really doing anything.  It's kind of just... there.  The mutation that's causing disease is Q1463.  Dr. G. admits that he doesn't know a lot about that particular mutation because it's so rare.  How rare is it?  It's so rare that it's not found in the CFTR2, and I can only find information for 1 other person listed in the Toronto  children's hospital CFTR database.  It looks like Judith is presenting with mild disease, and it sounds like there's a good chance that she should remain pancreatic sufficient since they believe the Q1463 mutation doesn't cause insufficiency.

It's driving me a little batty that I'm not finding more information on this mutation, because I would really like to do more research and try to understand it better.  Knowing both mutations is not completely moot, but right now I'm in the mindset that we're doing what we can to treat her disease based off how she's presenting and doing.

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