Sunday, March 13, 2011

The Gray Area

I've come to conclusion that nothing in life is ever "black or white" - everything seems to fall in the gray shaded area!

For example, my son has a genetic disorder called Noonan Syndrome.  In "basic" terms its a genetic disorder that prevents normal development in various parts of the body.  Its caused by a genetic mutation that is acquired when a fetus inherits a copy of an affected gene from a parent or it can be a spontaneous mutation.  In my son's case, it appears to be a spontaneous "mild" mutation; however, I must say my husband and I have yet to be tested.  Mostly because we aren't planning on anymore children. We will let my daughter decide if she wants to be tested when she understands things better.  I will probably encourage her to test prior to having children, so she is aware of her ability to have or not to have a child with Noonan Syndrome.  She then can make the necessary decisions in her life.  Just saying all that, I defined the "gray area" in my daughter's life.  Even if she is tested and she is "negative", there is always a "fluke" chance of her giving birth to a child with Noonan Syndrome.  So it isn't necessarily "black and white".

Why is Noonans so "gray"?  Well, its a pretty rare genetic disorder in that it hasn't been "researched" until just recently, and when I say recently I mean since the 1960s.  The statistical odds are estimated at 1 in 1000 to 1 in 2500 live births.  Most doctors have never heard of it, or say, "yah, I think I may have heard about it in med school".  The "genetic testing" portion is pretty recent too, so chances are there are more people with Noonan Syndrome than what is reported.

Noonan Syndrome is characterized by unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations and in some cases developmental delays - but these are just a few of the "problems" a person faces when they have Noonan Syndrome.  At least in my son's case, we still have some "unknowns" when it comes to medical and behavioral issues.

Research so far has identified mutations in 4 genes - KRAS, PTPN11, RAF1 and SOS1.  What does that all mean?  Well if I was a geneticist I could probably explain this, but I'm not - so I'm going to pull information from a website (http://ghr.nlm.nih.gov/condition/noonan-syndrome) to explain it for me ....
  • The PTPN11SOS1KRAS, and RAF1 genes all provide instructions for making proteins that are important for the proper formation of several types of tissue during development. These proteins also play roles in cell division, cell movement, and cell differentiation (the process by which cells mature to carry out specific functions).
  • Mutations in the PTPN11 gene, SOS1 gene, KRAS gene, or RAF1 gene cause the resulting protein to be continuously active, rather than switching on and off in response to signals that control growth and development. This constant activation disrupts the regulation of systems that control cell growth and division, leading to the characteristic features of Noonan syndrome.
Wow, I couldn't explain it better myself.

Just image being hit with all of this information on a day you weren't expecting to hear anything "bad".  A heart murmur was detected by my son's G/I specialist when he was roughly 4 months old.  A month later, my husband took my son to the cardiologist by himself because my daughter was sick with a fever and we were pretty much told that the murmur is probably an "innocent" one.  I was a little nervous but really down deep felt things were ok.  Hell, I had a murmur as a baby as did my oldest brother and sister.  We all are fine today!  When my husband was at the cardiologist for two hours I got a little antsy.  Then he finally calls me and says "do you want the good news or the bad news?".  How does one respond to that?  He proceeds to tell me that my son has a congenital heart condition called pulmonary valvular stenosis but he doesn't need surgery now and the cardiologist wants him to see a geneticist because she suspects he might have Noonan Syndrome.  She asked that I don't "Google" Noonan Syndrome - so what do I do?  Google of course.  I had to .... and as I read down the "list of traits" tears streamed down  my face.  I could check off a fair amount of things off the list that he had.  I was like crap!  How did this happen?  All the things I loved about him - were traits of Noonan Syndrome.  It was that day I learned that nothing in life is "black and white" but truly just shades of gray.

Everything that is "wrong" with my son, we wonder is this "Noonans"?  or ....  We never truly know.  And when I say "wrong" I'm talking about his acid reflux issues, his asthma, his somewhat compromised immune system, and his eating issues.

In attempting to change "gray" to a "black and white" scenario, my child ends up in the hospital for 19 days.  We were hoping to find a medical reason for his lack of eating, yet we still don't have solid answers and we may or may not have uncovered a blood disorder.  So every time we think we made strides in getting answers, we find that we still don't know things.  His eating issue, is this a behavioral issue - or does he really have celiacs and we just have to get him comfortable eating again with a gluten free diet?  Of course, the only way we will find some answers are to have the G/I doctor perform another endoscopy in a couple of years, but that's not an option given his recent endoscopy complication.

We've been waiting 2 1/2  years to hear that my son will need a heart procedure/surgery to correct his pulmonary valvular stenosis (PVS).  We still don't know if he'll ever need a procedure/surgery, but its always an issue looming.  The procedure to "fix" the PVS isn't necessarily a permanent fix and may need to be repeated or he'll need to have a valve replaced down the road.

Believe it or not, I actually like the color "gray" - its a staple in my wardrobe during the winter months!  It makes me feel warm and cozy.  So maybe its best to accept the "gray" areas of life and let them comfort me from the "not so good" - black/dark things in life and "keep me grounded" from the white/bright things in life.

I think "gray" is my color - I've learned to just accept things and take each new challenge as it comes.

1 comment:

  1. Gray can be a good color. Good thing you have wonderful kids to add those splashes of color to your world! ((hugs))

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