Life as a Leach

I apologize for the lack of posting.  But...no news is good news in the medically fragile world!  Abby has been doing SO well and we are thankful for the many improvements to her health.  She had a touch of pneumonia in the beginning of February and stayed at home!  This is huge because pneumonia can be a beast for diseased lungs.  She did her breathing treatments like a champ and hung in there just fine.  The last few weeks, her school has been pretty germy.  We kept her out for a week and a half to protect her while the flu made its rounds.  Everything is looking much better now though, so she happily went back on Tuesday.  While she is the one of my kids who I could easily home school, she is also the one of my two who simply loves being around people! Today is Rare Disease Day, and I wanted to share what I have been posting on Facebook with you all here. Cerebrocostomandibular Syndrome, Abby’s primary diagnosis, is extremely rare. T...

Today is Rare Disease Day, a day when all of the orphan diseases can unite and not feel quite so alone.  It's a day to show that while your disease isn't as well-known as others, you are still supported and loved.  And yes, it's celebrated on February 29th on purpose.  :) In honor of Rare Disease Day, I wanted to share (with their permission, of course!) a little about some of our friends with Cerebrocostomandibular Syndrome. We are the faces of Cerebrocostomandibular Syndrome. We are sons.  We like painting, cars, and cartoons. We fight naps!  We like to build things and knock them down. We are superheroes!  We love to count, sort shapes, and play with animals. We are aunts to cute nephews.  We love Bruce Springsteen, chick flix, and the New York Giants. We are college seniors!  We live on campus, are presidents of organizations, and are finishing bachelors degrees. We are independent!  We love Chinese...

Cerebrocostomandibular Syndrome was the diagnosis given to Abby when she was less than 12 hours old.  We were hoping against hope that the geneticist was wrong, but she wasn't.  Some of you are relatively new to this blog, and it's been a while since I gave a big explanation of her entire complex syndrome.  Continuing with our countdown to #rarediseaseday, I thought it would be good to share the basics.  So what is CCMS? CCMS is an extremely rare inherited disorder with approximately 65 documented cases.  characterized by an abnormally small jaw, a cleft palate, improper positioning of the tongue, and abnormal development of the ribs.  One third of children also have very small heads (microcephaly).  In most cases, such abnormalities contribute to significant respiratory problems during early infancy.   Abby has all of these symptoms.  About half of her ribs are in multiple pieces.  On an xray, it looks like someone took a hammer t...

In just 2 short hours, my miracle will turn 5.   Five. FIVE!!!!! This is another milestone to add to her journey, and it's one we haven't shared as publicly.   There are lots of statistics about kids born with rare diseases.  Here's one that is pretty crippling if you let it be: Yet, here we are, with a little girl full of zest for life and more joy than I could have ever imagined! I will never forget when Caleb found this sheet (it's a Rare Disease info card published by Rare Genes) two years ago and comprehended what it meant.  He brought it to me sobbing, asking if Abby was going to die before she was five.  My answer has always and will always be that we are thankful for every second and God knows exactly how long we will have Abby. I'm so grateful for these last five years.  I am a different person because of them, and I wouldn't change a thing.   Abby's birthday is always a bittersweet day for me, with a touch of PTSD thrown in there.  There...

We have many more pictures and memories to share.  Stay tuned!

The connection these girls have is beautiful! Before Abby even met Emily, she loved her.  We talk about Emily a fair amount at home (and a lot more now that she's visited!) and Abby was anxious for her to come on the day of her arrival.  After her nap, "Is she here yet?"  When I explained that we have to pick her up from the airport, "Are we going to get Emily yet?"  When the door opened, "Is that Emily?" While Abby played the normal I'm-too-shy-to-give-you-hugs card when we first saw Emily at baggage claim, she very quickly warmed up when we got home! She even told Emily (without any provoking or even discussion) that they are Best Friends Forever!  (She said Anna is still her best friend too, though!) There was an instant connection between them--like Abby just knew that Emily was a kindred spirit.  She certainly doesn't understand the magnitude of having Emily visit, but she definitely understands that they have ...

Remember Emily?   She's the young adult with CCMS that we have been fortunate to get to know over the last few years.  I talked to her mom for an hour the other night, and I can say we are blessed to have a family who gets our life.  It's really interesting to the surgeries and therapies she's had and get a glimpse of what could be in store for Abby.  We don't typically have any indication of what Abby is going to need in the future, so learning about Emily's journey is as close as we will ever get!  Plus, she is such  a sweet girl with a huge  heart.  Just read a little of her blog! We've been saying for quite some time that we would really love to meet Emily in person.  So, a month of so ago, we started really planning!  After our recent conversation, we have chosen a date and Emily is going to come visit for a long weekend!!! It means so much to us that this college student wants to give up part of her winter break to hang out wit...

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 ...

We made it home from Philadelphia!  I didn't bring my camera with me because it was such a quick trip and I didn't want to have to worry about it while we were in the hospital (I do NOT leave it in the car!!), so I don't have any pictures to share.  But we did have some adventures! After driving 4 hours after church and hitting some traffic at the Bay Bridge (shocker) and on 95, we made it to Philadelphia with really no issues.  We stayed at the Double Tree because we didn't get into the RMH near the hospital .  Sadness.  But the Double Tree was very nice and RMH got us a good rate.  We checked in, got settled, then headed out to find the hospital so that we would know where to go in the (early) morning.  We grabbed dinner at Chipotle and brought it back to the hotel, then decided to let the kids go for a late evening swim at the pool.  After all, swimming would tire them out and make for an easy bedtime, right?   Ha!!!! I think we all f...

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...

Matt and I decided to pursue something that we have been thinking about for a while.  It's a big, big step, but I think it's needed. As you know, Abby has a rib-gap anomaly that has caused her ribs to be in pieces.  The concern is that the ribs won't expand properly to allow the lungs to grow.  Until now, we have been very occasionally followed by a thoracic specialist at JHH.  I felt comfortable with him, but he has now taken a position at a hospital in Florida.  Sadness.  Now, our other doctors can't tell us who we should see instead.  They've basically said to just wait and see if she starts to have respiratory issues and deal with the ribs if she does. That didn't sit too well with us, so we made the decision to go visit Dr. Campbell at Children's Hospital of Philadelphia (CHOP).  Dr. Campbell is the creator of the VEPTR rib , and he is one of the only people who has actually seen what CCMS ribs look like!  Here is a  video ...

I was looking through some old blog posts for something else when I came across this.  It was posted in early November, just a few weeks after Abby was born.  It was fitting then, but I love it even more now!  This was originally written for preemie moms.  Although I am one of those too, I found it fitting to make it into a CCMS story. ~*~How CCMS Moms Are Chosen~*~  (Erma Bombeck)  Did you ever wonder how the mothers of CCMS babies are chosen?  Somehow, I visualize God hovering over Earth, selecting his  instruments for propagation with great care and deliberation. As he  observes, he instructs his angels to take notes in a giant ledger.  "Armstrong, Beth, son. Patron Saint, Matthew.  Forrest, Marjorie, daughter. Patron Saint, Celia." Finally, he passes a name to an angel and smiles.  "Give her a baby with CCMS." The angel looks shocked. "Why this one, God?   She's so happy."   "Exactly," smiles God....

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...

Fear grips me at the most untimely  of times. Like sitting at a funeral, when I find myself considering the idea that I could be planning one for my daughter instead of she planning one for me...the way it should  be. Like when Abby is kicking a soccer ball around with the other toddlers while the big kids have soccer practice, and I gasp as she gets knocked down.  Just how strong are those ribs now? Like waking at the sound of every single cough on the monitor, wondering if it is going to turn into something more. Like seeing her gag on some food, praying that she doesn't aspirate on it.  What is "going down the wrong pipe" for most kids is a constant threat of pneumonia for mine. Like being asked what Abby's prognosis is, and having to say that I really don't know.  Then having to explain that her syndrome is so rare that there really isn't a prognosis.  She is pretty much making her own path here. Like singing "You Are My Sunshine" ...

I felt compelled to write such a bold title for one simple reason:  it's NOT a death sentence, but all of the research makes it sound like it is.  All of it.  Just check out some of the links on my CCMS page. I have even found an article (not a medically-based one, mind you) where the author suggests that parents who receive a prenatal diagnosis of CCMS should terminate.  I have written the author to suggest that perhaps he should instead recommend that the parents seek out the best medical care to save their child, but he has yet to change the article.  Maybe I should write him again... Perhaps you have found my blog and are a parent or loved one of someone with CCMS.  Perhaps, like me, you went straight to the computer right after you got the diagnosis.  I hope that if you learn only one thing, it's that there is always hope. I'm not naive enough to think that all CCMS stories are as happy as ours is.  But I can tell you that CCMS is not ...

So, I never quite managed to blog about Rare Disease Day in the days leading up to it.  Last year, we made t-shirts, encouraged everyone to wear blue, and spread the word.  I even asked people to send me pictures of them in their blue and did a photo collage of it on the blog!  This year...I just never quite got around to it.  I have been just super busy all around with two awesome kids, so I think that's a good enough reason. I did share a few Rare Disease Day pictures on Facebook and write a post about raising awareness for those living with rare diseases.  That should count for something, right? And my dear Abby celebrated Rare Disease Day in her own way, with her own color scheme.  She decided that princess tutus just SCREAM awareness.  They scream something...

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...

...we brought our Abby Joy home for the very first time at just shy of three months old.  What an emotional day that was!! It started out frustrating because bad weather (that wasn't very bad at all!) was going to keep the nursing agency representative from being able to do our intake.  The hospital wouldn't let Abby go home without nursing care, so this would have made us stay at least another day.  Several phone calls from a very angry husband later, she agreed that she would "try" to get down there.  (The weather was fine!!  Kids didn't even go in late!!) Once we realized that this was actually happening, it became surreal.  We hugged and cried tears of joy because we were finally doing something that most of the doctors didn't think would happen.  As we walked out of the hospital, I almost felt like we were stealing her and someone was going to take us down the moment we stepped out of the door! Thankfulness overtook us as we pulled out of th...