more matter | less art

Sometimes I want to take my facebook news feed and throw it through a window.

It baffles me how many expectant moms (usually young ones) will post a status 6+ weeks before their due date that says something to the effect of “I am SO sick of being pregnant – I hope he/she will come early!”

All I can say is you have no idea how badly I want to throttle them. Whenever baby number 2 comes along (not for at least another year, so don’t hold your breath just yet ;] ), I pray to God he or she will bake for 40 or more weeks. I know it’s uncomfortable… my Asher belly was HUGE, even at 28 weeks – he was oversized for his age and I had waaaay more fluid than is typical. I don’t care, though. Four months in a NICU will change your outlook on a lot of things. Heartburn? Bring it. Swelling? Fine with me. It’s all worth it.

Having a baby prematurely? It’s no picnic, friends.

So yeah. I see these updates and they make me angry, because these girls are squandering away a beautiful time, and they have NO IDEA what it is they are hoping for.

For that I suppose I can grant them mercy… after I whack them with a clue-by-four.

My friends Shannon and Tara nominated me for a Lemonade Award. I’m honored, and gladly return the favor to them.

The Lemonade Award is given to bloggers who show a positive attitude, gratitude and a willingness to share their ideas, support and online friendship. In other words, people who make lemonade when they get lemons!

The rules of the award:

1. Put the Lemonade logo on your blog within your post
2. Nominate at least 10 blogs with great attitude or gratitude
3. Link the nominees within your post
4. Let the nominees know that they received this award by commenting on their blog
5. Share the love and link to the person from whom you received this award

In the world of facebook, I don’t think I even have 10 blogging friends. Haha. I will do my best, however. Aside from the two ladies above:

Jen at The Adventures and Misadventures of Morrison Inc is an amazing inspiration. She lost her beautiful daughter Maggie to Trisomy 18 just over a year ago. Watching them pour out their love and pain during her short time on earth (and continuing today) was both heart wrenching and beautiful. She went through the most painful and dreaded experience any mother can imagine, yet remained strong for her husband and children.

Jessica at Loving Life as a Mom and Wife has become a great friend of mine. She is honest and reflective, and always uplifting and encouraging – and forever thankful to her heavenly Father. She and her family live in the world of food allergies but are always striving to find creative ways around them (like a gluten/egg/dairy free birthday cake!).

Renee at Life with my Special K’s is awesome. Her daughter Kennedy has Down Syndrome, but rather than letting a diagnosis limit and define their lives, they’re allowing it to expand it – they’re currently in the process of adopting a little Ukrainian girl with Down Syndrome and will be bringing her home in just a few days!

Beckie at Copley Crew is another inspiration. Her daughter Hannah has a rare disorder called autoimmune enteropathy in which the body’s own immune system attacks the intestinal wall and affects the way it absorbs food. I originally came across her blog on a Google hunt for the Zevex Enteralite Infinity super-mini backpack, and I have since become a silent follower of it. They’ve gone through countless tests and hospital visits, and they were without answers for a long time. She has persevered through it all, never giving up the search for an answer and the quest to improve her daughter’s health.

Emily at The Huamanis was one of Asher’s NICU nurses. She shares her insights and experiences on her blog, as well as her struggles with a severe nut allergy and recurring migraine headaches brought on by a thyroid problem. Emily has always been a great support to me, and I’m glad she shares herself and her wisdom so willingly with the world.

Mare at Vertically Challenged is a daughter of God, always seeking His will for her life. On her blog she shares about her faith, her boys, and her life – the good and the bad. It’s refreshing to read her thoughts on how God is working in her life, and how far He has brought her.

CFC Friends and Family:

JPMorgan Chase & Co. has introduced a new giving campaign. Through Facebook, you can vote for over 500,000 charities. CFC International is asking for your votes.

The 100 charities with the most votes will receive $25,000 and continue on to the 2nd round. $100,000 to $1,000,000 will be awarded in the 2nd round. First round voting ends December 11th. Please vote for CFC before then!

The SocialVibe widget is up and working again over in the right-hand column. Just click the box, and then answer the question on the page that comes up (“What’s the best gift you’ve ever received?”). No personal info required. Voila! Our sponsor, the CBS show “Three Rivers,” donates money to the Children’s Miracle Network, which raises funds for children’s hospitals. It’s worth a click! (or two, or three…)

I always tell people that when you’re in shoes like mine, you have to live in a glass-half-full world in order to maintain your sanity. If I focused on the negative… well, I’m not sure there would be any daylight left in the pit that I would have dug.

I hope you watched the video in this post, which explains a little bit about the genetic disorder that Asher was diagnosed with through DNA testing. In the video, it states that there are about 300 people in the world who have CFC. What’s not mentioned in the video is that 85% of those cases come from a mutation in the BRAF gene, thus most of the research is based on children with this mutation. Asher’s BRAF gene is not affected. The gene that’s causing such a ruckus for him is the MAP2K1 gene (sometimes called the MEK1 gene). MAP2K1 stands for “mitogen-activated protein kinase kinase 1,” and it looks like this:

The official description of the function of the gene is this:

The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development.

So, in a nutshell, it sends signals throughout the body, telling it what to do – as do many genes.

Genes are made up of these things called exons, which are not gas stations, but little pieces that make up the code for a portion of the protein/gene. Put them together and you have a gene, like this:

In Asher’s case, one of his exons got the sequencing of the code wrong, putting an amino acid in the wrong spot, resulting in a disorder with an exceptionally long name condensed nicely into an acronym. A mutation in the MAP2K1 gene accounts for only 10% of kids with CFC. In other words, about 30 kids worldwide.

CFC, which stands for cardiofaciocutaneous, is a genetic disorder that affects the heart (cardio), facial features (facio), and the skin (cutaneous). It can also affect motor, speech, and mental development. It can range anywhere from mild to severe.

As I said earlier, the VAST majority of the research is based on children with mutations in the BRAF gene – very, very little is known about the condition when it involves the MAP2K1 gene. In the exceptionally long descriptive article from the NIH that was given to Chad and I when CFC was first put on the table as a possibility (which, by the way, was this time last year – I’ve had plenty of time to read up on this stuff), only three cases of children with MAP2K1 or MAP2K2 mutations were noted as a part of a study.

This is good news, in a sense – because it means that there is very little information out there about this mutation, which in turn means that Asher cannot be defined. You can’t say, “Oh, he’ll only function at this level” or “Oh, he’ll never do that.” He is truly an unknown variable. Asher has shown nothing but progress so far. Granted, it’s been at a slow pace, but he works incredibly hard and has come a long, long way since this time last year. He’s anything but static. His physical features are also very mild when compared to photos of kids with CFC, which is hopeful in and of itself.

BTW: All the studies are on kids because this disorder has only recently been identified – there is no inherent shortened life span or anything of that sort.

The other piece of good news is that this type of gene mutation has always been de novo, meaning it was sporadic and did not come from either Chad or me. It just sort of happened. The chance of any future children being affected with CFC is next to none.

So, that’s the upside to all of this. The diagnosis gave us a name, but it did not give us limits. Not that Asher would have paid attention to those anyway.

And if you made it through to the end, and especially if you followed a link or two – thank you for caring enough about us to want to learn more about our world. We love you for it.

Over the past few weeks, Asher has decided he doesn’t like going to bed. He fusses and whines as soon as we put him in his crib, and he’s only soothed by having either Chad or me stand in there and rub his back and talk to him. It’s adorable to see him growing the attachment that most kids develop at a much younger age. Tonight I read him the story of Adam and Eve out of his little Bible we got him the other day, and he was fascinated by the pictures and by my “snake voice.” Ssssssss.

The other day in PT, his therapist said he had “moments of greatness” (and some extra fussiness, of course). I love hearing things like that. Asher is a “two steps forward, one step back” kind of guy, so I love it when we’re in the forward motion stage.

Ummm… hm, what else?

We DID get approval for his new feeding pump. Hooray! I honestly think that the folks at Apria have a little star next to my name or something, because ever since I contacted the Joint Commission about them they always put me on hold so I can talk to a specific person who is just sweet as pie and makes sure I get everything I need. We were supposed to get the pump yesterday, but the local branch had to order a new one from the company because they didn’t have any in stock. We have the bags already – hopefully we’ll have the new pump next week and I can post some pictures.

Next week is the semester kickoff for the Bible study I’m involved in on campus. I made a bunch of phone calls today, left lots of voicemails, and talked to a few folks who seemed pretty interested. I hope it’s an exciting year for us! We’re doing a study called Twenty-Four Hours with John. I’m really looking forward to it.

Now, back to the last Harry Potter book. G’night!

Most of you reading this blog know that little Asher is tube fed and has been his entire life. I’m so grateful that the people we are close to treat it just the same as they would if they saw a baby drinking from a bottle or sippy cup. I’ve never encountered someone who was taken aback, and I think that’s awesome.

Of course, our goal is for him to eat PO (per os in Latin, which means “by mouth” – medical jargon). I’m very pleased with his speech pathologist / feeding therapist who is helping him take steps toward that goal, but for the time being his sole source of nutrition is the pump.

Right now we use a Kangaroo Joey pump:

We’ve been using it for over a year now, and I really don’t have too many complaints. A few months ago the company that manufactures it (Kendall) changed the design on the bags, and we’ve had trouble with them every month since. It seems there are at least 5 defective bags in each shipment we get, but I’ve finally gotten our home health provider to add 5 extra bags into the mix so it will balance out. I like the ATM-style buttons and general aesthetics of the pump, but we are about to run into a problem.

As small and portable as it is, it’s still on the cumbersome side for Asher. It weighs 1.7 pounds (2.3 with the IV pole clamp attached), and the backpack that came with it is VERY long to accommodate the 1000 mL feeding bags (Asher only needs 500 mL bags, but we are no longer able to get them). We’re really working hard on weight bearing and crawling exercises in PT now, and once he is mobile, the pump is just going to be added weight. I’m ready to consider a change.

Next week we are going to talk to his GI about getting an EnteraLite Infinity:

At just 14 ounces, it’s nearly a pound lighter than the Joey, which in Asher’s small world makes a HUGE difference. I’ve heard lots of positive comments from other folks in the tube feeding community, and though it does have some naysayers, the general consensus is that it’s the best pump on the market. The bags are also shaped differently, so the pump + bag set fit into a much smaller “super-mini” backpack. Look how cute they are!

And while you might wonder, “Who cares how cute something like that is?” – believe me, in the special needs world, you care. My son might need to eat with a tube, but there’s no reason he should stand out if he doesn’t have to.

As with anything in the world of medicine, there is no guarantee we will get this pump. I know his GI is on board, but the home health company needs to be as well. Suffice it to say we’ve had some less than pleasant experiences with them, so pray with us that we can make the transition smoothly. I’ll get feisty if I have to, but as Bartleby would say, “I would prefer not to.”