Doctors appointments in the Windy City

Yesterday we embarked on a little day trip adventure to the Windy City.

The view's not too shabby - Evan and I enjoy a good skyline - but that city traffic makes our blood pressure skyrocket. I had to put on Garth Brooks as we entered the city limits to get Evan to a happier place :)

So the purpose of our trip? Brenna, of course.

This was the first time we've ever traveled for anything medical related to Brenna (we are SO LUCKY). And it wasn't anything necessary or pressing. It was at the encouragement of our dermatologist here in Springfield who wanted us to see a pediatric dermatologist in Chicago, Dr. Amy Paller, who is an ichthyosis expert at Lurie Children's Hospital and is on the  board at FIRST. To us, that is the mark of the best kind of doctor - one who seeks other's opinions in order to get the best treatment for their patients.

And while there, we also saw another GI doctor on the same floor to get more input on Brenna's feeding issues.

Both appointments went very well, and we were really happy with both physicians we saw. They were fairly general appointments with lots of talking, but it was really nice to discuss some "problem" areas on her skin and some other concerns we have about her skin and feeding issues. We feel like with a condition this rare, it can never hurt to get additional input about her daily care.

Brenna was so hyper before her first appointment - laughing hysterically and practically shaking with excitement.

Her excitement quickly began to wane as the residents came into our room and she eyed them warily. By the end of the second appointment, sister had checked out and was as crabby as ever. She was fast asleep before we even exited the parking garage.

Then she perked up again for an early dinner at my brother's condo, where she also received a bath in their kitchen sink. Boo Boo was a big fan.

Meanwhile, Connor joined up with my cousin Jill and her son Hagen for an afternoon scavenger hunt at the zoo, followed by a little park play time. He had a fantastic time and is still talking about all the animals he got to see. It was so nice to be able to see several family members while being in town for just the day.

Unfortunately we hit some bad storms when we were just 45 minutes from home, which gave our day a nerve-wracking ending...but overall a very worthwhile trip that I'm glad we took the time to make. It's so helpful to add to our list of resources as we try to give Brenna the best possible care.

Brenna Helen Marie is 17 Months Old!

My Beautiful Brenna,

In the last month, your personality has come alive. Mentally, you are really transforming from a baby to a toddler. You are still not saying much (only DaDa and Dog - "doh" - though you are very vocal in your own little language!) but you are understanding so much now. You can follow simple requests like giving and taking something, or putting a toy into a container, and you imitate when we demonstrate something and then ask "can you do it?"

You have developed a deep, deep love for being outside. You squeal and stretch out your arms to the door ALL the time. (Of COURSE my child who has so many challenges with being outdoors - sun, the temperature, etc. - loves to be outdoors!) The swing is your happy place. I think you would stay in there all day if I let you. You also rock back and forth excitedly while sitting in my lap and watching Connor run around the yard; you can't WAIT to be chasing after him.

What a LOOK that is!

This month has been a very happy one for you. You are in a fantastic mood after waking for the day and after nap, and you squeal and "AH!" and get so excited about everything going on. You are one social creature, and you want to be in on the action all the time.

You are standing so well with just a little assistance, and you are pulling up with a little boost (like if you're sitting on my leg, you'll reach up to the coffee table or laundry basket to pull yourself up.) And while it's sometimes frustrating having to be your transportation still, I have to admit that it's so incredibly cute when I ask "which way?" and you lean and point where you want to go :)

As we get out more and more, you have developed another new like: other babies. When I say "Brenna, do you see the baby?", your body gets almost rigid with excitement and you said "Uh!" You immediately start reaching for the baby (who is generally younger than you and bigger than you!) to try to hold hands or give hugs. Giving hugs and kisses is a daily part of your life now, and I can't get enough!

Happy 17 months, Boo Boo Chicken. Hard to believe you are almost a year and a half. I think you are going to surprise us all by what you accomplish in the coming months, and I'm so thrilled to be sharing all of these new and exciting experiences with you as you become more aware of what's going on and understand our words and actions. You are a pretty incredible person, and you continue to astound us every day.

How to Assemble a Kid-Friendly, Aquaphor-Friendly Wardrobe

I'm by no means anywhere close to fashionable. I'm a basic kind of girl, and I'm admittedly too cheap to spend money on the latest trends just to have to update my wardrobe every year. I really can be (gasp) reluctant to spend money on myself. Like if I mention I really like something, Evan will practically make me buy it.

So I am slowly but surely updating my wardrobe. My After-Kids wardrobe. Because those off-the-shoulder tops that hang so perfectly on the models? I'll just tell you right now that they don't look like that after an afternoon playing at the park.

I'm talking higher necklines. I'm talking flatter shoes. I'm talking no more strapless dresses when the kids are around. Because kids pull clothes. Downwards. And that just gets uncomfortable for everyone involved.

And then Brenna happened. And my wardrobe plans changed again. It sounds so stupid, but that was one of the things that I would get really frustrated about for a long time. Finding a new bleach stain or Aquaphor stain might even bring about tears. So now I evaluate an article of clothing based not only on its kid-friendly rating, but its Aquaphor-friendly rating too.

I was always a big fan of grays/blacks/navys...and now that's practically all I wear. Because they hide Aquaphor stains like no other. So when I miss a stain or two before I throw it in the wash like I've been known to do, it doesn't really ruin the shirt. It's also nice to go out in public after a day with Brenna and not have huge noticeable grease stains all over me. Just sayin.

So I snatched up this dress at Target the other day - straps, long and black...check, check and check.

Prints - depending on the colors and the print - can also be a spectacular cover for Aquaphor. I've been a striped fool lately. This is another recent purchase, also from Target.

 I picked up a couple of striped shirts recently from Loft as well, including the pink one pictured here, which has been quite Aquaphor-friendly...

More stripes, from Express. Yes they are different shirts - one is navy, one is black. I'm all about variety here, people.

Also, whenever Target or Old Navy have sales (like I said, I'm cheap) on these basic t-shirts, I try to buy one or two. At $6, I don't want to throw things in anger if they get ruined.

I was never much of a jewelry person to begin with, but now that I have a daughter with an appreciation for sparkly things, I definitely avoid anything that dangles from my ears on a daily basis. That's just asking for trouble. (on that note, some people get excited when Brenna reaches for them, thinking she wants to hold their hand or give a high five. I hate to dash hopes, but she's just trying to snatch the bling off your finger :) She's a sly thing, that one. )

So that's my uniform these days. And if you see me out this summer with my blacks and stripes...and grease stains galore...I won't blame you if you want to copy my hot look ;)

Harlequin Ichthyosis Explained: Skin

You know how much it sucks to take your baby or child to the doctor to get shots?

You just want to yell at the nurses "Stop!! Stop hurting her!" It's hard to see our child in pain.

I would liken the intense part of Brenna's daily skin care - bath time - to getting shots for 30 minutes a day. She is uncomfortable, sometimes in pain, she's crying, her eyes are pleading with us to just stop, and she just wants to be out of the bath and in our arms.

I know some kids with ichthyosis don't mind baths at all. And I'm hoping maybe Brenna will get to a point where bath time isn't so miserable for her. But right now, it is. She enjoys the soaking portion of the regimen, and isn't so bothered by the early scrubbing. But once we start hitting sensitive areas - her feet, her face, her armpits, her groin - she is crying with discomfort. Sometimes I can block it out because it is such a regular occurrence. But then sometimes I have those days where I just want to cry along with her, when I feel so guilty and heartsick that this has to be such a miserable daily experience for her.

As I mentioned in my first post of the series, the skin typically provides a protective layer for our bodies, a barrier between our body and the outside world.

Because Brenna is missing the gene that aids in skin development, her skin doesn't form as it should. Her body then recognizes this "error," and tries to make up for it, producing skin at a rate that is 10 times faster than normal. And then her body can't shed this skin quickly enough, leaving her with thick top layers of skin that don't "work."

The gene involved with skin development that causes Harlequin when a mutation occurs is the ABCA12 gene. The blog ConfettiSkin.com writes about the importance of this gene to our bodies:

If you read anywhere else about ABCA12, you might see people call it a "highly conserved gene." This means that if you look at the genes of a rat, a fish, a fruit fly, a porcupine or a human, each one of those animals has this gene, and in every case, the gene has the exact same sequence. This tells us that this gene is really important, and if it gets messed up, the owner of the mutation usually doesn't live long enough to pass it to offspring.

When Brenna was first born, her skin was formed in thick, almost white, plaques covering her body with deep red fissures in between. Due to such critical care provided by the medical staff at St. John's Hospital, her body began to slowly shed these thick scales thanks to her being kept in a very warm, high-humidity isolette and given a medication similar to accutane (called acitretin). This left her with the reddish, flaky skin that she has today and will have for the rest of her life.

At 4 weeks old, Brenna's original skin on her back had all finally peeled off

The two basic steps of skin care that we do are bath and regularly applying Aquaphor. It seems so simple, but these two things - along of course with minimizing infection risk - save her life.

Applying Aquaphor keeps her skin moist and supple the whole day. A regular lotion would soak immediately into her skin, but the thick emollient of Aquaphor works wonders at coating her skin with a layer of moisture that lasts several hours. We apply Aquaphor 4-5 times a day in the summer, and 5-6 times a day in the winter.

Bath time is for exfoliating the skin that has built up. While it's no fun for anyone, least of all Brenna, her skin looks absolutely beautiful after bath time and it is so obvious how much better it feels to her. Thankfully the complaints that plague bath time stop almost immediately after getting out, and by the time we're applying Aquaphor, she is squealing and wiggling around. Her latest trick is to try to bring her feet to her face - a movement she is never able to do at any other point in the day due to the dryness and tightness.

Her post-bath skin will only last hours....by morning the next day after her evening bath, her skin will be very dry and the layers will already be building up again, leaving her with thick flakes of skin all over her body. I've read that Brenna completes a skin cycle of growing and shedding skin in one day what most people do in 2 weeks.

There is one benefit to her over-production of skin however: if she ever gets a scratch - even a big one that is trickling blood - it is literally gone the same day. It's really pretty incredible to witness!

In addition to Brenna's skin being too thick, over-producing and not being able to shed quickly enough, it also doesn't do the job that the top layer of skin was intended to do, such as keep water in for hydration, regulate body temperature and keep out bacteria.

In future posts, I'll explain more in-depth how this creates a huge impact on Brenna's overall health...

Meeting the Good People Behind TinySuperheroes

I love the phrase "good people." Because when you hear it, you know exactly the kind of people who are being described: down-to-earth, kind-hearted, interesting and interested in others, positive and uplifting without even trying. The kind of people that make you be a better person.

This morning we were so excited to meet Robyn, the incredible creator of TinySuperheroes, along with her husband Joe and son Rory. And they are good people.

It was just 5 months ago when Robyn first emailed me asking if she could make superhero capes for Brenna and Connor after following our blog. This simple message catapulted her giving heart into the wildly successful TinySuperheroes program that donates capes to empower children fighting illnesses and diseases (including lots with ichthyosis!). She has received media exposure for this amazing program from across the country, and even was able to donate capes to the children affected by the Boston Marathon bombings.

I realized that I haven't mentioned a key connection to our story before - I went to high school with Robyn's husband Joe, and his sister was in my graduating class. So since they're from this area, they came back to visit this week, allowing us the opportunity to get our families together! 

The local TV news station also popped in on our visit to do a story about TinySuperheroes and the role that Brenna played in its creation.

Robyn being interviewed. 

Sweet shot of Evan and Brenna swinging :)

 To watch the story by WICS, click here. Our reporter Andrew and camera man Bob did a great job :)

I feel like we could have sat and talked with Robyn and Joe the entire day. They are such good-hearted, interesting people, and we just really clicked. We feel so blessed to be a part of the story behind TinySuperheroes, and we are so moved by the way they are empowering families, raising awareness about rare disease and just plain caring. Like I said...good people :)

Tickled by the Swing

Words are not flowing this morning, after a hectic weekend out of town for a wedding.

So therefore, I'll leave you with a favorite new video. A little girl who discovered a new love, that tickles her belly and causes her to laugh and grin with reckless abandon :)

(warning: obnoxious "whee"-ing on my part.)

Why I Always Stop at Lemonade Stands

I hate to be late. I am almost never late. But I was a couple of minutes late for my hair appointment the other evening.

I had come to the four-way stop at the entrance of my neighborhood, and was just about to turn left when I noticed a little boy sitting on the sidewalk in front of his house straight in front of me. He sat up a little straighter and looked my way, anticipating a potential customer. His sign read "Lemonade, 50 cents."

I have a personal policy to never go by a lemonade stand without making a purchase.

I remember well the excitement of selling lemonade, or homemade bracelets, or Girl Scout Cookies...and how much I appreciated when someone would buy from me. It rocked my little 8-year-old world.

I've been considering this a lot lately as I raise my kids. Being a good parent often means attempting to understand the world of your child. I constantly am trying to remember and remind myself what life should be like as a child - learning about responsibility and kindness and sharing, but also having the opportunity to be happy-go-lucky whenever possible.

When I am frustrated about what a mess the kids have made or that they won't eat something I know they like or when they get upset about plans changing or they want to watch a Franklin the Turtle show for the millionth time in a row, I bring myself into their world. And I recall that I was the exact same way (Sorry Mom and Dad :) )

It's easy to become upset with Connor for things like not moving quickly enough when we're trying to get out the door. But I remind myself "he's THREE. He doesn't know what being in a hurry means." And so I have made it more of a personal goal to not put us all in situations that frustrate everyone. I have been trying to start start getting everyone ready earlier if we have to be someone so that I don't have to turn into Mean Mom, screeching "come on!! We're going to be late!!" and making Connor feel attacked and frustrated when he's not getting his shoes on fast enough.

When we are in the midst of a Great Toddler Meltdown (which thankfully are very rare in our house. I'm not holding out hope for that to be the case with Brenna though...sassy thing), we are trying to get on Connor's level, calm him down and show him that we understand his feelings, even if things can't always go his way, rather than just yelling "stop acting like that!"

Our relationships with our kids grow so much closer when we come into their world rather than trying to bring them into ours before they're ready - teaching and explaining and playing in ways they can understand instead of just expecting them to "get it."

And I am remembering how exciting little things are as a child. And it makes it exciting all over again as a parent if you embrace the little things and see them through the eyes of a child. Not only holidays and birthdays and vacations...but going to the park or the swimming pool. And a trip to the video store to pick out a new movie. And building a fort and reading books in it with a flashlight. Those moments can be purely magic for kids.

As parents, seeing life through the eyes of our child makes the good things more exciting and special, and makes the bad things easier to cope with and understand. There is nothing better than rocking a kid's little world.

This is why I always stop at lemonade stands...