World Rare Disease Day - A Day of Celebration, Not Defeat

Today is World Rare Disease Day. It is the third World Rare Disease Day that has meant something to me, but the first one that I haven't publicly ignored. It has taken me a long time to come out with my testimony regarding Landree and her syndrome. It was a hard pill to swallow that my child was born with a VERY rare genetic condition that no one could relate to. It was a lonely time for me. I secluded myself from most - including my best friend, biggest supporter and the person who loved Landree as much as I did, my husband. I had to find my own way to grieve, cope and accept that my the child I gave birth to, was not the one I had in my mind. Yes, there was a grieving and mourning process, and I had to lay the "normal" child in my mind down to rest. That is not the child that God gave me.

Instead, he wanted me to have something rare, something beautiful. Something so fearfully and wonderfully made that in my quiet times and prayerful pleas and cries, that he revealed to me Psalm 139:13-14. It was never, ever so apparent to me. "For you formed my inward parts; you knitted me together in my mother's womb. I praise you for I am fearfully and wonderfully made."

Wait.

So, what you're telling me is, this chromosome. This ONE chromosome, He knitted himself and left it out? On purpose? Whoa.

God left it out on purpose. He knitted her inward parts. He paid attention to so much detail, but chose to leave that one little detail out on purpose. That's how He wanted her. So that's exactly how I grew to want her. Just as she was, made in His image with this one rare difference. Who needs chromosome number 5, anyway?

In all honesty, it hasn't been easy. It's been very difficult at times and quite defeating. But my goodness, I couldn't see my life without Landree and who she is. I love her so much. I love her so intensely and the same, yet different than the others. I find myself literally stopping and staring at her for 30 minutes, just in awe. I'm in awe of her unique-ness, her olive complexion, her amazing smile, her GREAT hair, and just the way she takes life in. She's perfect. Rare, but perfect.

By the time she was two, I had reached an acceptance point and knew what we were looking at as far as life with Landree. And I begin to really, really love the life. Sure it has it's limitations. There are certain places we know we can't go because the over-stimulation will send Landree into hysterics. We know what if we go somewhere to do physical activity, either Landree will have to sit by and watch or we leave her with a grandparent at home (which I swear she much prefers, anyway). We know that when we take her out in her wheelchair, people stare and wonder what's wrong with her. But usually when people meet her, they're very taken back by her gorgeous, big-tooth smile, her happy noises and her intensity to eat food (which is hilarious). Yes, life with Landree is pretty great. She was born with a rare condition. So rare, that every doctor we have encountered has never heard of her syndrome and they either google or wiki it to find out more about it. Which is hard, sometimes. But God also gave us the resources to Dr. Schafer in Little Rock, who has spent his life dedicating all of his pediatric and genetic studies on her syndrome. If I send him an email I get a response that day or the next. He's an AMAZING man with so much knowledge on my Landree. We are grateful to have found him so close by.

I bet I'm driving you crazy I haven't given the name of it, yet, huh? I do that on purpose. Most people want to know what it is. For what reason? I'm not sure. I'm assuming to it's to google it and find out more about my little anomaly. Not that googling necessarily means anything because Landree  has for sure proven to define the syndrome in her own way and in a lot of ways, is different than the others. But in some ways she's the same. In some ways more severe, with her physical limitations. But I don't go by that very often, Landree will do what Landree will do...when she's ready.

And here we are. She's nearly four years old and just when I thought she couldn't get anymore rare...BOOM. The ball drops. If you read my last post that I wrote last week, you know that Landree was diagnosed with a new disease (click here to read about her new diagnosis). I won't bore you with redundancy, but what it boils down to is a food allergy. It's called Eosinophilic Esophagitis, and it is the inflammation of the esophagus and it causes severe reflux-like symptoms, regurgitation, lethargy, vomiting, and a very, VERY strict diet. And if you know my Landree, you know that for two years of her life she had nothing by mouth because of silent aspiration. So, she has a G-tube. And when she was approved to eat by mouth finally, nothing could stop her. She loves food so much. So a disease where I have to limit what she eats and eating is painful, is like shoving a knife STRAIGHT THROUGH MY HEART. One of the only things she really enjoys, could really become one of her least favorite things to do, if we don't get this figured out.

I have a good support system of doctors, and thanks to a friend I taught with, I've been connected to one of the best pediatric food allergist doctors in the area. I'm hopeful that with her amazing GI doctor and this new doctor, we will find what works and doesn't work for Landree and get her better. Although, Landree is having severe regurgitation issues right now, and I've started her on an elimination diet (no wheat, milk, eggs, peanuts, shell fish, or egg). It's extremely overwhelming and daunting and I hate every second of it. I can't lie. But along with her syndrome and this new food related disease, life with Landree just got a little more complicated. And I'm tired.

Nevertheless, God has given me this precious angel to care for and to use to make much of His name. And I praise, praise, praise Him for this gift He has given me. I couldn't be more blessed to be her Momma and to take on this beautiful, rare gem of a child.

I would like to ask for prayer for Landree. She already has so many limitations and now food being one of them is so heart-wrenching for me. Not to mention, having a non-verbal child means she can't tell me what is bothering her and what she needs from me. I have to guess at most things. But God is always faithful and he has changed me in so many ways.

Thank goodness for Landree. Thank goodness He gave her to me. Before her I was not humble, very selfish, prideful and liked things just so. Through her I've seen so many of those sins go away in different ways, because she has opened my eyes to grace. I'm still working on those things, because I'm full of sin, but Landree helps me want to change all that.

So. Here's to World Rare Disease Day and my (double) rare Angel. Love her so much. Please consider donating to this foundation or to Landree's syndrome/food allergy. I pray that answers are found through the research these men and women do and will help find cures for Landree and other kiddos with rare and life-threatening conditions. Thanks, friends.

https://globalgenes.secure.force.com/donate

http://sotossyndrome.org/donate-now

http://www.eosinophilicesophagitishome.org