The Story of Us: Landen's FX Diagnosis

Me with Landen, much younger (both of us!)

Quite often I am asked to tell the story of how we came to find out that our sweet Landen had Fragile X Syndrome.  I thought it might be good to record my memories of the whole experience here.  It is a story of searching, loss, heartache, community, hope, and prayer.  At times I wish I had a different tale to share, but this one is ours, and I believe it is a beautiful one because God's love has masterfully knitted our hearts together, never letting us fall past the grip of His grace and hope.  

Landen was born on January 18, 1999.. 6 days overdue and 8 lbs 9 oz....He was perfect with a great color and a healthy set of lungs.  =)

I remember waking up the next morning in the hospital to Mark gently explaining to me that the doctor had pointed out that Landen had 3 distinct abnormalities...all of which were fairly common and "nothing to worry about".  One was a heart murmur..they believed this was benign and would disappear in a few days, (and it did).  We were instructed to have him checked again soon and then follow up in 6 months with a cardiologist.  The next one was "pectus excavatum"..a congenital defect that causes the sternum to be indented.  We were told this was not cause for alarm and might just be something that concerns him cosmetically as he grows.  The last one was a hypospadius of the tee tee area..you'll have to look that one up : ) But it was of no real concern either and could be fixed as an infant.  

I remember taking a deep breath and trying my best to rely on the information that all of those issues were commonplace.  How strange though, I thought, to have 3 separate abnormalities at the same time...it was quite the coincidence that placed a sliver of quiet concern in my heart.

As the months of Landen's infancy drew on, all was peaceful and developing as expected.  Just like Bethany, he was a great baby who ate and slept well, followed a nice schedule and was easy going and happy.  

Baby Landen with Bethany, aged 5

When he was about 6-9 months I noticed that in attempting to sit up he was able, but it was sort of hunched over, as if he were a little lazy.  I also noticed that when I held him on my hip that he didn't grab on very tight with his legs.  This really stood out to me when I began to babysit occasionally for another little girl who was about the same age.  I also began to notice a particular spark in her eye that I couldn't always place in my conscious mind...it was just a mother's intuition that began to grow within me that there was a subtle difference between she and Landen.  I noticed a greater level of inquisition about people and objects and activity than I seemed to witness in my son. At that time I usually took on an introspective judgement upon myself and my own parenting...I must "not be doing something right"...I was constantly feeling a growing need to make sure he was surrounded by color, books, toys, and interaction.  An undercurrent of anxiety was growing in my mind, and a concerning sense of watching and waiting for milestones to come.  

Once he hit the 12-13 months mark, he was walking but only if he was holding our hand and sort of on his tip toes mainly.  As soon as we would let go he would stand a second, then collapse into a seating position with what again looked as if he were merely too tired and disinterested to keep going with it.  The doctor assured us that he was "just being a boy" and a "typical late-bloomer".  That wasn't setting well with me..I decided to get a couple of other names of doctors and let them take a look at Landen over the next few months.  They all agreed he was probably fine, that some boys do take until 18 months to start walking.  One doctor;  however, admitted she felt I should go to another route of discovery.  So we set an appointment for diagnosticians from the school district to come pay a home visit and do an evaluation on Landen.  "If there's nothing wrong, then at least your fears will be alleviated" she said.  Something in my gut began to really grow and manifest an anxiety that day.  I was scared.  

The backdrop of our life at that time was happy and very fulfilling.  Mark was the youth pastor of our church.  We had just built our first home and absolutely loved having youth over.  Looking back I know that sharing our life with teenagers at that time helped us to focus outside of ourselves and give us an outlet amidst the question marks about Landen's development. We were thankful for how sweetly the kids all loved on both Bethany and Landen.  We had a faithful community of friends and support.  In our usual weekly routine we attended the Wednesday night prayer service.  For weeks we asked for prayer for Landen to begin walking, and that if any medical issues were causing his delays that he would be healed.   I'll never forget how beautifully we were embraced by our church community.  Their  faith-filled prayers and love they offered warmed our hearts and calmed our minds.  We knew we were not alone.

The day before the school district reps were due to come to our home, at 17 months of age,  Landen began walking.  We were elated, grateful, relieved.  Our  friends rejoiced with us at church that night.  We all went home with hearts full of hope.  I took a deep breath and prepared myself to go through the motions of the tests the next day, anticipating the opportunity for Landen to prove he was out of the woods.  

Two ladies came to our house the next morning.  They played and interacted with Landen, taking notes and marking answers on their test forms.  They convened at the dining table for a time, speaking softly to each other and comparing notes.  I watched from a distance from the living room, playing with Landen.  They called us over to the table to discuss their findings.   I felt like I was moving in slow motion...the walk I had taken a million times from the living room to the dining table felt so long.  They told us, in an aloof, matter -of- fact manner,  "He definitely has a global delay of at least six months, which means that something significant and underlying is probably causing these issues, and that also means he qualifies for our services for therapy."  We were dumbfounded.  My heart sank in a way that I had never experienced in my life.  Looking back I don't know why were naive enough to not understand that his delays would likely have a medical cause.  All I know is, it is one of the hardest things to process the possibility that your sweet and beautiful child may not have the capabilities to fulfill all of the hopes and dreams that were ushered into your world when they arrived.  We begged God to heal our son.  I taped Isaiah 43 to the dash of my car that says “when you walk through the fire you will not be burned, when you go through the floodwaters you will not drown.”

Despite the advice of the therapists that day to not bother investigating any genetic or medical cause for Landen's delay..it "wouldn't change it" they said...I knew better.  I knew we needed an official diagnosis in case of any other accompanying medical complications that we needed to be prepared for. So the long journey of visits with multiple doctors and specialists began... we hit the Meyer Center at TCH, a renowned neurologist, and a geneticist.  These visits proved to be emotional roller coasters.  The neurologist was first convinced that he was fine...Landen was a sweet charmer and interacted really well with the doctor.  He sent us home advising us to see the geneticist to "rule out" any issues, but that he felt Landen had been a late bloomer and nothing more.  We left feeling cautiously optimistic...until the next morning when that same dr called me back.  He said the more he thought through Landen's case after we left, that he felt in his gut that we should check into something called William's Syndrome.  All he had to do was mention that name once and I immediately began a furious internet search to learn all I could about the condition...comparing pictures of afflicted kids with those of Landen, basically trying to diagnose him myself.  

Our next step was to see the geneticist at TCH.  He advised us to begin with a blood panel that would test for introductory genetic markers of some of the most common syndromes and issues.  If anything indicated a "red flag" they would do further testing in that particular area.  After a couple of weeks I got the news over the phone that a genetic marker had appeared.  Not for William's Syndrome, but for Fragile X Syndrome.  It was not definitive and would need further specific testing.  The geneticist strongly felt that Landen did not fit the description for FX, but reminded me that anything was possible.  The other piece they discovered was an elevated reading in his urine that could indicate an extremely serious mitochondrial dna problem that could lead to a complete deterioration of health over several years.  But because further detection would involve more invasive measures, the doctor recommended we first rule out FX.  

That started one of the darkest times in our life. At times Mark and I could barely communicate. We both sort of slipped into our own coping habits- me on the internet searching for hours for clues, Mark retreating into work. We were essentially drowning in our own separate seas of grief. “This was the kind of thing that happens to other people” we thought. 

We realized that we were at a crossroads in our faith. Could we trust that God would heal Landen, no matter what the diagnosis would say, and if not, would we continue to follow the Lord wholeheartedly, trusting in His goodness and purpose for our life? 

As Mark and I began to pray together for Landen, God began to unite our hearts with the same hope. We knew we wanted to see God’s power in our life. We thought- we could have seemingly perfect children, house, cars- blessings wrapped in all the typical packages we think we need to be happy, and yet all the while miss out on a touch of only what God can bring to life, and in the way He wants to bring it. So Mark and I decided to lay our son  at His feet, and trust that even in suffering, He would grant us that peace we so desperately craved. 

In those days I found the comfort I needed in the Psalms. God was my rock, my hiding place. I was so desperate at times that I carried my prayer journal around with me in the car so that I could stop and cry out to God when waves of fear would engulf me. 

After a very long six weeks that spanned the Christmas holidays, that dreaded call from the doctor came on January 16, 2001, 2 days before Landen's second birthday.  I was home alone with the kids and went into my bedroom, barely able to breathe as I listened.  He said he was surprised by the results, but that Landen did indeed have Fragile X Syndrome.  I had unknowingly been the carrier of a faulty gene passed down on my X chromosome that affected my son’s DNA. The effect on children ranges from learning disabilities to moderate retardation.

I hung up the phone crying, then trying to collect myself so as to figure out how I was going to break the news to Mark.  He was due home from work soon.  Mark came home and as we stood in the kitchen I told him I had finally gotten the call.  After we had stood there for a while talking, I heard little Landen calling to me from his room.  He had woken up from a late nap.  I vividly remember turning the corner from the kitchen into the hallway, and again the walk to his bedroom door felt so long, almost in slow motion.  A million thoughts flooded my mind within a couple of seconds.."I'm about to look at my child knowing he's different...is he gonna seem different to me?  He's the same sweet boy he was before I had ever heard the term Fragile X...don't let this scare you...you already know him.." As I opened his door, he was standing in his crib, smiling at me, lifting up his arms for me to hold him.  I was filled with more love and compassion than I had even felt before.

We had to, in many ways, bury the dream of the son we thought we would have. We had to lose all normal expectations. We began what has now been 12 years of doctor visits, medication, and therapy. Despite the hardship, Landen has been a delightful child as he has grown, and has been dearly loved by those around him, especially his big sister Bethany. His disposition is magnetic and endearing. He loves cars, airplanes, riding his bike, watching movies, going to car washes.

Of course there have been many difficult paths on this journey.  Much of those have been described in other posts on this blog.  And as for answering that haunting question..."could we trust in God's goodness and purpose for our life?"  The Lord has given us the ability to say yes.  But it is a decision we must make every day, sometimes moment by moment.  Overall, we couldn't be more grateful for our precious boy.  He has a contagious smile and reminds us every day how important it is to take in each moment of life, reconciling broken dreams with the undeniable joy we experience because of who he is.

To learn more about Fragile X Syndrome, visit www.fragilex.org