Friday, August 10, 2018

Landrey's Journey Part 13 (The Official Diagnosis)

 A future undetermined. A past too complicated to explain. A present that requires relentless tenacity.

“It’s an answer with no answer,” I said to the Pediatric Geneticist. “Yes, you’re exactly right,” he responds.

“She’s the first documented case in history with the specific error in that gene. She’s only the fourth in the history of the world with even a notated abnormality in that gene. She’s the first in the United States with an error in that gene at all.” His findings seemed to astound and intrigue even him.

Landrey on Easter morning in a Children's hospital in 2018
 “So what do we call it?” I asked along with 10 consolidated yet in-depth questions I had prepared to ask rapid fire. I scribbled his answer. The other nine took him two hours to explain. He didn’t seem to be in a hurry. We sat in a room the size of most American closets filled with an odd combination of awkward hospital furniture as he, alongside his nurse practitioner, drew genetic code and almost science-fiction level research. The consult cost me a specialist copay, but I’m pretty certain most physicians around the country would have paid to sit in on this lecture.

“Rare Genetic Condition with a gene mutation of the CSNK2B gene.” I wrote down his response on the right side of my paper. The name was a little longer than I anticipated when pre-writing my questions, as was the brevity of her future.

“So there’s no road map?” Nothing on google. Nothing in a medical textbook. Just two case studies done in 2017 that linked two of the four major illnesses Landrey has to this gene. Three other individuals known in history have an error in it, but not the same type of error. It’s if someone broke their left arm and another broke their left leg. The same side of the body was impacted but their life would be impacted differently.

No one can determine life expectancy, quality of life, potential intellectual IQ or mental capacity in the future. We don’t know if she will ever potty train, or understand how to not run away from danger, such as not running to the oven when it’s open, or straight into the street. One of the most brilliant people I’ve ever met then proceeds, “There are 22,000-25,000 genes in your body. We know about the functions of 4,090 genes. This one is one we don’t know about. With your permission, we will write an international case study on Landrey to document these findings.” It was discovered in 2017 that three people had myoclonic epilepsy and intellectual disability and shared an error in that gene). Landrey has those exact illnesses but we don’t yet know if it’s tied to her cardiac condition or the cause of her immune-deficiency.” We do know it was not inherited, so it cannot be passed through future generations. We don’t know if her immune system will break down now or in the future. We don’t know what this gene does, so what part of the brain does it impact as you age. We know every time she needs the CSNK2B gene from the time she was being formed in-utero and building her brain and body to daily human function today, the gene is not making the correct protein. Genes make proteins. Each gene is really just a recipe for making a certain protein. You are made of proteins. They build, grow and regulate your body.

We learned two things. They know nothing concrete about it and there is no cure.

We learned two things. They know nothing concrete about it and there is no cure. It took a few weeks to settle in. One day it just hit us. Of course, this would be the diagnosis: an unknown future, an uncertain plan and unsettling journey, a complete inability to repair, a complete inability to control the outcome. No amount of money, power or influence at this time would be able to heal her.

We need God.

We didn’t know it when we started this journey several days before Easter of 2012 that this would be the story. To be honest, we prayed in full faith for a complete miracle. We believed she would be healed. I wasn’t really comfortable with the idea that God could allow a baby to continually suffer in pain in multiple ways for life. The entire journey I have flare ups. “Hmm God, you’re letting her suffer? You’ve allowed this to be so expensive that we have depleted every single resource and maxed our credit line. We keep standing in faith for healing. You heal, we tell the world You moved and kept her alive, but then allow another storm to come. Are we being tested or showcased? Are we failing? Or are we being used by You in such a way in this day in age that you are asking us to carry this torch.”

Landrey fighting bacterial and viral pneumonia in 2018
Of course, it would be this diagnosis. This entire journey is about what do you do with your faith in God when your circumstances don’t line up with what you’re praying or seeing. When you can’t control it. When you’re absolutely helpless. When you have to lean on His presence minute by minute. Will it change our perspective on God when we can't understand His perspective of us. A few years ago, the Lord spoke to me, "Just because you have been given a validated reason to fear (or worry, feel anxious, or be depressed) doesn't give you the right to hang on to this crippling emotion for a lifetime. "My brethren, count it all joy when you fall into various trials, knowing that the testing of your faith produces patience. But let patience have its perfect work, that you may be perfect and complete, lacking nothing. " James 1: 2-4 What does that look like? That means that in the middle of your situation, maybe even your unfair situation, that you don't have the right to walk in anger, fear, worry or doubt. That means we are to choose joy, choose peace, choose to trust in God. You don’t have to choose joy when things are going your way. I may have been give a reason to fear but it does not give me the right. You can ask my best friends, I have not done this every day.

“If Landrey were healthy….” I think about that a lot. What would it be like to hear her talk like her age. What would it be like to hear her version of coding and coming back. What would it be like to hear her tell me what it feels like to meet my eyes when she’s choking during a seizure. What would it feel like to hear her thank a teacher who left their entire job to be her one-on-one aid in school. What would it be like to hear her thank the people who fought to even get her an aid, or the nurses in a cube who have never met her who write stuff so insurance will pay for more. What would it be like to hear her thank grandparents who pause their life and try to find ways to help us. What would it feel like if every moment I didn’t have to trust God that we would have enough money to pay for pediasure for her. What would it feel like to not need Him but to just occasionally show up at church on a Sunday.

Would I be different? I probably would not have told the story of His faithfulness in the dugout this spring during softball. I probably would not have shared my faith over and over and over on social media or in a hospital to resident physicians brought in by the droves to see her every time she gets ill. I probably wouldn’t care quite as much about anyone around me.

Landrey saved us from ourselves.

Why did God choose us? How can we help the next family? These were the questions I started with while I’ve tried to write this multiple times. That’s why the blog is here again.

Is there ever hope for a cure? That’s the sci-fi stuff. No, really it is. Deep level research that no one is doing right now. Why? Because she’s the only one in the United States that has it. The more people who are diagnosed, the more people will be able to put pressure on medical centers to research genetic disorders and how we could rebuild a protein. That type of science is being done in other capacities in other countries, but not on the CSNK2B gene. Why? Because before this diagnosis in the U.S. and this blog post no one even knew to research it, much less throw some funding to hire some to research it.

Will Landrey live long enough for science to catch up to her life-threatening needs? No one can answer that. This little blog I started six years ago will be insight for physicians and people who can read through perhaps similar symptoms and get diagnosed. Because I’m a journalist, it’s in me to write. I’ve documented every critical illness and how many hospitalizations. One of the most helpful things to her current host of specialists is being handed a two-page document on almost six years of life, instead of the 20,000-page chart from her previous medical center in Texas.  

Landrey is a trailblazer.

She is a picture of His unearthly grace for every moment through a journey of pain. What is your biggest fear? Stop and think about it. If ____ happened, it would be too hard to overcome. I would probably be pretty angry with God. I’ve felt that emotion before. I’ve asked Him a lot of questions. Sometimes all I hear is “My Grace is sufficient for you.” I have a choice right then to continue to be angry, fear, doubt, panic, mostly panic or I can trust in Him no matter what report I’m reading on my hospital app.

I believe that’s why Landrey is here.

A picture of His promise. An earthly story of His grace. 

A picture of His promise. An earthly story of His grace.

You’re a fighter, Landrey. You’re not alone.

“But we have this treasure in jars of clay to show that this all-surpassing power is from God and not from us. We are hard pressed on every side, but not crushed; perplexed, but not in despair; persecuted, but not abandoned; struck down, but not destroyed. Therefore, we do not lose heart. Though outwardly we are wasting away, yet inwardly we are being renewed day by day. For our light and momentary troubles are achieving for us an eternal glory that far outweighs them all. So, we fix our eyes not on what is seen, but on what is unseen, since what is seen is temporary, but what is unseen is eternal.” 2 Corinthians 4:7-9, 16-18

Our pretty little warrior 

#GodIsReal #LandreyIsProof


  1. Kristen, I saw your story when Coach Niedermeyer posted it on twitter. My wife and I have a 4 year old who faces similar challenges as Landrey having a genetic syndrome and having been through three open heart surgeries.

    If you haven’t already, please look into Medicaid waivers programs in your state. In Texas, our daughter qualified and based on the seriousness of her issues she has both regular insurance and Medicaid which means her extra therapy and formula, etc. are covered. Medicaid also covers her deductible with our insurance company.

  2. This was an amazing read! I have a 2 1/2 year old daughter that has just been diagnosed with the same csnk2b genetic disorder. It was frustrating up to this point going to dr after dr, having test after test done, many nights in the hospitals, & so many unanswered questions. Then we finally found out that she has this rare condition & it’s like we’re back to square one. I’m thankful that we have an explanation but not so much that I will never know what her future may hold & as a mother that’s a very scary thought. I will definitely be praying for your girl & your family as I know what you are going through. I wish her the best of luck & will continue to follow her story!

  3. My name is Julia Nalle and we have adopted a child who was just diagnosed with CSNKCB too... We got the diagnosis today. My e-mail is We need to connect. Our daughter is 7 and has severe epilepsy - Doose Syndrome - major speech delay. My blog is - or Micah Six Eight I'm trying to read everything I can since finding out today and stumbled upon your post. I saw Cassidy Snider's comment too and think it is really strange that three families all hear the same extremely rare gene mutation within days of each other.

  4. Hey Kristen, my name is Keri Ninness and I saw a post on your family on Facebook. My son also has a rare genetic disorder, mutation on csnkn2a1. He was the 6th child in the world but with increasing access to whole exome sequencing testing, there are now about 50. I will second the above, we are in Atlanta (I went to college with mary Beth Smart- amazing family!) . Look into the katie Beckett deeming waiver. It’s a federal program but state run. Your child needs 5 therapies a week unless IQ is signicialtely low and then 5 therapies aren’t always needed. Pays for 2000 a month in therapies and all md copays. It literally saved our finances. There are advocates who can help with the application process (google debbie Donna- huge disability advocate In GA but she may be able to refer in TN.) my son Thomas will be 6 on September 10 and we just got an answer a year ago but ours was similar to yours- an answer with no answer. Like you, we are people of great faith and know that God has such purpose for our babies. About also like you, the day to day is daunting and scary and wonderful and expensive and exhausting. It’s so hard to explain to other people. Anyway, your family has my prayers today. We are actually flying out to my today to meet with the head of pediatric genetic at Columbia university, dr Wendy Chung. She does a lot of work with rare diseases as this is her passion. Just another name to keep in your back pocket. Have a wonderful week. Will be cheering for your family and for the brave and strong Mama fighting for her girl! Keri Ninness.

  5. Sorry it’s debbie Dobbs who is the disability advocate (auto correct!)

  6. Your eloquent writing of precious Laundrey's fight and will to live so touched my heart. I will continue to follow her story and believe God for complete healing, as well as wisdom, knowledge, and understanding for your and your husband. God's richest blessings and love.

  7. One of the blessings of Landrey is that you are exposed to the absolute best version of everyone you meet with her. It's an amazing blessing and provides an incredible view of what could be on this earth. I'm proud to be a Landrey fan!

  8. Hi Kristen, I live in Clarksville and just read your family's story in the newspaper. Never having dealt with anything even close makes it hard to imagine the difficulties you go through every day. I can feel the heart wrenching pain and also the love in your blog posts. I'm an Austin Peay fan and now a Landrey fan. If there is anything I can do for you or Landrey please email me. Praying for you guys. Kathy Owen

  9. Your story of pain, love, hope, and joy is an incredibly touching and inspiring story. I volunteer in our church's special needs room and I see families who come together regardless of their income, background, ethnicity, or family orientation lean on each other, family, and friends for the betterment of their children. I often state that our politicians could learn much from families of special needs children because their differences are irrelevant and they work together to improve their children's lives. God bless you and your family on this journey. Your strength and resiliency may vary during extremely difficult times but no doubt your love for one another and God will always be strong. God bless you and please continue to update us on Landrey's story.

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  11. Hi Kirsten. We would like to to get in contact with you. Our son was diagnosed in 2017 with a mutation on the CSNK2b gene (in frame duplication). At the moment we have a facebook group of 13 parents who have a kid with a mutation on this gene. Together we share our information and help each other with questions. You are welcome to join.

    Best regards from the Netherlands,

    Tijmen and Esther

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