Sunday, July 28, 2013


I have had this rolling around in my head for over a week now and couldn't even fathom writing about it until now.  That's how tough this is for me to write.  As it is, I have been working on this for over two hours.

Back in May, we participated in a Canadian genetics study where researchers are trying to confirm that they have found the mutated gene that causes CCMS.  We were really excited about the prospect of being a part of a such a big (well, for about 10 people!) study.  All that was required was a saliva collection from Matt, Abby, and me.  It was painless and easy!  We got a little bit silly during the process, took pictures for posterity, mailed off the collections, and really didn't think too much about it after that.

The Thursday before Abby finished feeding therapy, I had a message from our geneticist saying she had some news about the study.  We played a little phone tag and she finally caught up with me on Saturday morning on my way home from RMH.  

I was fully expecting the first bit of news we heard:  Abby has the mutated gene that they feel causes CCMS.  This supports their research and means that they are more than likely correct!

What I wasn't expecting was the next piece of news:  

I do too.


The next few minutes of conversation were rather surreal, with little doctor jargon snippets floating in and out:  chest xray...high soft palet...affects future children...more research needed...asymptomatic CCMS...

But none of that really reached me, because all I could think about was that


I ended the conversation as quickly as I could with the poor geneticist trying to reassure me that this wasn't my fault and apologizing for giving me this news over the phone.  (I didn't fault her for that, because she knows we live far away and were doing feeding therapy at the time.  She didn't really have an alternative, although I would have preferred to get that information in person with my husband there!)

I then promptly completely lost it on the Baltimore beltway with a van full of stuff we'd accumulated over the past six weeks and a little girl in the back innocently asking, "You okay, Mommy?"

How could I reassure her that I was okay, when I was completely overwhelmed with the new-found knowledge that I was the one who gave her this horrible syndrome that nearly cost her her life?

Matt was in Indiana at the time and unable to easily answer his phone, so I decided against calling him.  Normally he would have been my automatic first phone call, but I don't call him while he's on work trips unless it is an emergency.  Instead, my poor sister was completely blindsided by my hysterics and was pretty sure we had gotten in a horrible car accident or something.  It took her a while to piece everything together and kept apologizing that she didn't know what to say. In retrospect, I probably should have calmed down a bit before calling anyone!

After listening to my sister reassure me that it wasn't my fault, I did what any rational woman would do:  I bought a strawberry smoothie at McDonalds and downed that sucker!

I know what you're thinking, because it is the same thing that the very few people I have told up until now have said: it's not something I could have avoided and it doesn't change anything.  Abby is still Abby and the same genes that gave her beautiful chestnut hair and eyes gave her CCMS.  It's not my fault.

Excuse my frankness, but unless you have been told the genes that you have (NOT your husband or a combination) were the cause of a horrible syndrome that has put your two year old through 7 surgeries with many more in the future, two near-death experiences, and a life of chronic respiratory illness, you can't truly understand how I am feeling.  (Geez, I thought I was over that initial reaction...but that all just came flowing right on out!)

Okay, now that that's out of my system, the more rational side of me knows that I couldn't have known.  It's not like I knowingly smoked or drank while pregnant.  But for a girl who was so careful about what I put in my body during those 9 months to the point that I completely changed my vegetarian diet to avoid all soy because excessive amounts have been known to cause birth defects, it's frustrating to know that I was still the cause of a life-changing illness.

So, what does me having this mutated gene really mean?  Well, they really don't know.  It could mean that I am simply a carrier, or I could actually have a very mild form of CCMS that was undetected because I never had symptoms.  I will have a chest xray in the near future to check my ribs (I have never had major respiratory issues other than mild asthma, so I've had no need for an xray), which will help the researchers' understanding.  Interestingly enough, the mom of the other child in the study also had the mutated gene.  If a third family shows the same results, they will go ahead and publish the findings.  (Yes, usually you want a much bigger group in a study, but we're talking about just a few kids who live long enough to actually participate.  You take what you can get!)

But it could also mean that future children...or grandchildren...could have CCMS.  We don't know if Caleb has the gene, as he wasn't tested.  That is one of the questions I have for the geneticist when I get the chest xray done.  I imagine that they will want to test him to see if he has the mutated gene as well.  They really have no idea if CCMS is passed down from a symptomatic person to his/her child because CCMS kids haven't had kids yet.  While it seems that most CCMS kids are girls, I do know several boys as well.  But it was a hard pill to swallow hearing that our grandchildren could be potentially affected by this.  I think I liked it better when CCMS was just considered some crazy-rare, fluke thing that happens once in a blue moon.

With the timing of this news coinciding with our upcoming visit to CHOP for a consultation about Abby's ribs, I felt utterly responsible for the pain and suffering this poor child has already endured.  Would we have tried to have children if we'd known that this could happen?

I may not have taken that chance...and, as a sweet friend reminded me, we wouldn't have that sassy little brown-eyed princess who everyone adores.  I may not have taken that chance...and I wouldn't have been able to witness so many miracles in one little life.  I may not have taken that chance...and I would have missed out on having that deeper understanding of selfless love that comes with parenting a special needs child.

So, once again, in God's infinite wisdom, He knew exactly what He was doing when He caused that gene to mutate in my DNA so many years ago.  Abby was being fearfully and wonderfully made, so many years before we even met her!

And we know that in all things God works for the good of those who love him, who have been called according to his purpose.  Romans 8:28

Thank you for faithfully loving and praying for our family.  And thank you, Lord, for meeting me right where I'm at--in the good, the bad, and the ugly!  This is such an incredibly difficult, but amazingly beautiful journey we are on.  Can something be difficult and beautiful at the same time?  I believe it can.  That's where joy comes in.


Raelyn said...

I am so sorry to read this, Friend!! But remember. Abby is fearfully and wonderfully made!! As are you!! Both Beautifully Unique!! ;)
"Excuse my frankness, but unless you have been told the genes that you have (NOT your husband or a combination) were the cause of a horrible syndrome that has put your two year old through 7 surgeries with many more in the future, two near-death experiences, and a life of chronic respiratory illness, you can't truly understand how I am feeling.". Oh, but I do. I get your feelings and emotions. They are not irrational. I would be experiencing them, too. ;)
--Hugs and prayers!!--

Anonymous said...

It is a very mixed up and confusing situation. When my grand daughter was born with CCMS no one looked for it in an ultra sound and we were told it was not detectable. Even though our baby girl suffered terribly for 18 days I often wondered how do you make that decision. I understand how you would feel the way you do. You are a very special mom staying strong and doing the best you can with your loving heart. We never know why we are chosen to do the things we do but I'm sure you are helping so many other lives. Just like me by reading your story. This Grandma will always know I'm not alone feeling how I do.