G_Wiley's picture

Cecily’s Story

photoIn 2009, we took our daughter to the doctor for her four-year-old checkup.  I remember the doctor asking if she would be able to give a urine sample.  I figured that Cecily was not going to go for that and the doctor said no problem we really don't need it.  To my surprise Cecily did it, and that test changed our lives.  Her protein levels were through the roof.  And within a week we were at Duke Hospital with the news that she had Nephrotic Syndrome.

We had no idea what Nephrotic Syndrome was, but they told us that a round of steroids would help stop the high level of protein spillage.  After three months of steroids and her levels was still 3+.  They were not working.

Next stop -- genetic testing.  They told us that the chance of it being a genetic issue was slim to none but we better check.  As it turned out, it was genetic and she has Nephrotic Syndrome Type 2.  We found out that my husband and I both have a gene (NPHS2) that is mutated.  So we are BOTH carriers of this mutated gene.  The odds of the two of us BOTH having this is like one in a million.  We have always said that Cecily is one in a million and now we know this is true!  The reason that my husband and I don't have Nephrotic Syndrome is because we only have one mutated gene and the other one is normal (which makes us a carrier).  So our kids have a 1 in 4 chance of getting two mutated genes and this is the case for Cecily.

What this means is that Cecily's kidney filters do not work and will never work. 

She is on Lisinopril, which helps her blood pressure but she is still spilling at a 3+.  Her cholesterol is her newest issue which is at 260.  If we can't get this this under control we will have to go on medication for that too.  The good news is that her kidney function is at 100% for now.  And did I mention that otherwise she is totally normal?  She has no swelling and absolutely no other symptoms.  This is great, because NO one has any idea anything is wrong with her.  She is a regular seven-year old.

She is going to need a kidney transplant one day.  They do not know when. It is a progressive disease and it could be next year or it could be in 30 years.  Right now her kidneys are working at 100 percent, so we are going to try to keep these as long as we can!

More good news is that when they do find a donor for her, it has a high rate of success.  Since it is related to her genes, it should not affect the new healthy kidney.  Right now, Cecily is happy and thriving like nothing is wrong.



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