Monday, September 17, 2012

To Test, Or Not To Test?

I'm sure there are many opinions, all with very valid points, on whether or not to test children for CMT if one parent has it, and just as many opinions on how to go about testing them.  As parents, I believe that we all have the right to our own decisions, especially ones concerning our children and their health. I'd like to share my experiences of testing my children for CMT, and maybe some tips should anybody else feel like going about it the way that I did.

From the time I learned that each of my children had a 50% chance of having CMT, I knew that I wanted to be proactive in testing them for it.  I myself was adopted, and in the very limited medical history I have of my biological parents, CMT is not mentioned at all.  So, all I can do is just assume that mine is the result of a random genetic mutation.  My parents were amazing, and did everything they could to help me with my CMT.  I was tested for CMT through a nerve biopsy when I was 4 years old, but the results came back negative.  I was not officially diagnosed by a blood test when I was 12 years old.  That was 8 years of wondering for my parents.  Wondering what could be causing all of these problems with their daughter.

I knew that I could not deal with the uncertainty with my own children.  I am the type of person whose mind tends to immediately race to the worst case scenario in a lot of situations, and I wanted to try and avoid being the ultra-paranoid parent.

When I was pregnant with my first child in 2003, I learned that a blood test could be performed simply by taking some of the umbilical cord blood immediately after the baby was born.  That sounded simple enough, so that's what we did. 3 months later, we found out that the blood sample had never made it to the testing center for some reason.  I was furious!  I had been so emotionally obsessed with finding out, and then to have that let down of not having an answer, just about killed me.  I waited almost another 6 months before making an appointment to have my son's blood drawn again.  I very clearly remember the phone call from the pediatrician's office, telling me that the results had come back negative.  I had to pull my car over because I was crying so hard I couldn't see the road!  I am very thankful I had him tested at a young age.  He was a late walker, and also went through a period of toe-walking when he was about 3 years old. (He wanted to walk like a T-Rex! LOL) I know that I would have had those moments of panic had I not known for certain that he did not have it.

When I became pregnant again in  2007, my husband and I were convinced early on about two things....that this baby would be a girl, and that she would have CMT.  It was just a very distinct gut feeling.  Turns out, our gut feeling was right.  We had the cord blood tested again, and found out when she was just 6 weeks old that Addison did have CMT.  I was determined to be proactive about her treatment, and got her accepted into Shriner's Hospital for Children right after her first birthday.  It is so nice to be able to go see her physician every six months, and get an update on her progress and answers to my questions.  I feel like the path we are on with her is the right one, and I have so much hope for her future.

There was one glitch, though.  When the cord blood sample was taken, it was all labeled wrong.  Wrong date, wrong name, wrong ordering physician.  Blood testing is amazingly expensive, and when I got the bill in the mail, I about croaked.  I spent about 4 months attempting to straighten the mess out, going so far as needing to talk to the hospital administrator about the mistake.  Thankfully, it all got straightened out, and we didn't have to pay a penny.  Here's a tip: double and triple check that the information on the blood sample is correct!

Since we had had my two previous children tested immediately, my husband and I knew that we would do the same thing with our third.  I ended up being put under for a c-section for this birth, and so I made sure that my husband remembered to check the blood sample so that we didn't have the same problem as last time.  Everything got labeled correctly, sent off to the right place, and six weeks later we had the diagnosis that our sweet baby girl did not have CMT!

We thought we were out of the woods with that one....but we were wrong!  We had been under the impression that our insurance would cover at least 80% of the testing charges.  So when we got the bill for 17K (remember, I said testing was expensive?), I immediately got on the phone with our insurance carrier.  Turns out, genetic testing wasn't covered AT ALL.  As we looked further into the problem, we found out that the OBGYN who submitted our blood sample and paperwork didn't include any reasoning for the testing.  No family history, nothing.  So as far as the insurance knew, we were just a couple of really paranoid parents who picked some random disease to test our baby for. LOL.  We are, unfortunately, still fighting that battle over a year later, and it's exhausting and frustrating.  Here's my second tip: Double and triple check that this testing, or a portion of it, will be covered by insurance!

I keep asking myself if the peace of mind and the peace I feel with having the answers I want are worth all this time and money and frustration.  Most days, my answer is yes.  But I suppose that IS the question that every parent has to ask.  At the end of the day, it's not something that early diagnosis will change.  This is the road that I chose to go down with my children, and at the end of the day, I feel confident in my decision.  It may not be the decision or path for everyone, and that's completely okay.  I just hope that sharing my story and insights into this process may help somebody else make a decision one way or another.

1 comment:

Smilen Champ said...

My name is Jenna and I came across your site. Your kids are precious miracles, special gifts, handsome prince's and beautiful princessess They are cute earthly angels. Addison is a smilen champ, inspirational hero, courageous fighter, and a brave warrior. You are also an inspiration, a hero and an amazing person.
I was born with a rare life threatening disease, developmental delays, 14 medical conditions.