Life as a Leach

Have you ever knelt next to your child as he or she gets sick, or cuddled your baby with a raging fever, and just wished you could take it all away?  As miserable as it is at the time, you are so grateful when it gets better and you forget about how bad it was. I feel this way all of the time, except that it is not going to get any better--at least any time soon. Watching my little girl cry from the intense back pain that she has recently been experiencing makes me wish it were me instead of her.  I know how bad it is when she actually asks for the pain medicine that she hates to take.  We aren't sure if she needs an expansion or if her kyphosis (hump) is getting worse, but it's definitely affecting her.  Hearing her sadness when she realizes she can't participate in her first dance recital because she'll be recovering from surgery brought tears to my eyes.  I didn't realize that she didn't know, but she sobbed when I had to break the news to her.  I ...

Not sure if you've noticed, but it's been a little quiet over here on the blog recently.  When I have blogged, it hasn't been so emotional.  Some of that has just been the busy-ness of the time of year and the amount of time I can devote to blogging, but a fair amount has also been that I have really been trying to internalize what "having the gene" means...and I wasn't quite ready to share my heart again with the world. Guilt washed over me when Abby got sick with a virus and the usual concern over her weight and respiratory status during the illness begins.   I caused this.   The fear of the future began anew when we listened to the thoracic specialists talk about potential rib surgeries.   I caused this.   Teaching a new group of teachers all about Abby's medical precautions caused the butterflies in my stomach to flutter again at the thought of not being there to keep an eye on her.   I caused this. In my search to begin to understand why ...

Thank you for all of the sweet comments, emails, and prayers after my last post.  This has been very emotional for me, and it's even harder that Matt hasn't been home while I deal with it.  I'm still most definitely processing our news.   I have found myself quietly apologizing to Abby each night when I put her to bed.  Not apologizing for her life, but apologizing that I am the reason that she has to go through all of this. I've started the ball rolling for getting a chest xray.  Our insurance won't pay for it, since it's not medically necessary, so we're going through the genetic research department.  I expect that the xray would happen in the next few weeks.  It has to be done at Hopkins, so I'm hoping that I can get the xray done when we are already up there! I'm looking forward to having my husband back.  This summer, we've pretty much been apart.  That really hit me this week, and it's been a long one! I've been working on som...

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 mo...

I have VERY exciting news to share!! I found out today from our geneticist that a research organization in Canada believes they have found the gene that causes CCMS!!!! Isn't that amazing?! I can hardly believe it.  Abby is joining the study as a way for the team to confirm their findings. She's a "checker," of sorts.  Because there are so few people with CCMS, they need as many people as possible to join the study. It can be done by a blood test or saliva sample (cheek swab), but we are doing the cheek swab for Abby.  As I have said many times before, I'm not sticking her with anymore needles that I have to! In addition, our geneticist is interested in gathering patient information for a case study. Her main focus will be on sharing FAIR information about CCMS. As you know if you've been following me for a while, the limited research out there is all very grim.  CCMS is NOT the death sentence "they" say it is, so our geneticist wants to give phy...

I have to say, genetics went much  better than I expected!  I actually really liked the geneticist, as well as the fellows that also came in.  They were all very social with Abby and identified themselves as pediatricians  with a specialty in genetics.  BIG distinction there. The only picture they took of her was for her file so that they could put a face with a name...just a regular old cheesy grin!  No pictures of perceived imperfections, or even mention of them. Another thing I really appreciated was that the geneticist recognized that I have a lot of knowledge about Abby's syndrome and didn't try to talk down to me.  She answered questions and explained things well, but she also acknowledged that I may even have a better understanding of CCMS than she does!  She especially loved how much contact I have had with other CCMS kids and was very interested to hear how they were doing. We talked at length about the choice we have to join a rese...

Today is Genetics Day.  It was postponed in February because of bad weather, and this was the next available date.  I was in no hurry.  :) My feelings about genetics haven't changed.  I still feel strongly that Abby shouldn't be subjected to pictures of her "imperfections" or that we should discuss these perceived imperfections in front of her. I also refuse to allow them to draw her blood (something that seems to be common) unless they can give me a very specific reason.  The child has had SO much genetic testing in her young life!  Unless you've got something new to test for, you're not drawing her blood.  She's had enough. I'm hoping that this new geneticist is more sensitive so that my concerns aren't even warranted, but I'm skeptical.  And I'm really weary of what she can actually offer me.  We shall see!

When there's tons of hype, we get no snow.  When we are told that there's not going to be anymore than a dusting, we get a day off of school!! Today didn't start out so fabulously.  A snow day meant Caleb had to come with Abby and me to the genetics appointment.  I got an early start to allow for slow travel this morning.  It was a good thing, because it took me twice as long to get out of the county as normal.  (Am I the only one who has landmarks to check my time?  Ie:  out of the county within 30 minutes, get to rt 665 an hour before my scheduled appointment, enter Baltimore City within 20 minutes, etc.  Is that weird?!)  The roads in the southern end of the county were really not so good.  It got significantly better the farther north I got, so I was able to drive closer to the speed limit by the time I got to the county border. We had just left the county when I heard Caleb yell, "Uh oh!  Uh oh!"  I pulled over, but no...

Abby has a genetics appointment tomorrow. I am so not excited about this. We saw a geneticist at UMMC many times when Abby was a baby, and I just started feeling like it was pointless.  Countless genetic tests showed absolutely no abnormalities.   We even did testing that isn't approved in the U.S. and had to be sent to Canada!  (I really am not sure how our insurance paid for that one, but we never got a bill!)  Her genetic make-up isn't going to change, and we can't find any issues.  So why keep going? Plus, I am not a huge fan of someone whose job it is to point out every single imperfection in my daughter.  When Abby was a newborn in the NICU, I had to endure a lengthy examination by two geneticists where they oohed and ahhed over all of her abnormalities.  The last thing a stressed-out mom wants to hear is a laundry list of the things that aren't "right" with her daughter--and there's something downright wrong about hearing almost exciteme...