STXBP1, Trace's Story

Rare Disease Day 2018

It’s my first Rare Disease Day. That is, my first one as the amazingly blessed Momma of this gem of a rare little boy. So rare, in fact, that there is no one in the world quite like him, because God made Trace to be exactly who he is. Trace is a 2.5 year-old boy who already has an amazing story of God’s power and protection on his life. He is a happy, highly observant, very social, very sweet little guy and loves the interaction and attention of people around him.

Less than a year ago, on April 22, 2017, I got the phone call that changed our lives forever. That was when we were handed the elusive “answer” to the puzzle. Trace has a genetic change on the STXBP1 gene on the ninth chromosome. His is not a deletion, but a mutation on the gene, in which two tiny letters in the DNA sequence are out of order. This prevents the gene from fully producing the protein amino acid it is supposed to make, which directly affects how his brain communicates with the rest of his body. His brain needs help to produce neurotransmitters and to relay messages across synapses – and many times, those messages get lost and destroyed by enzymes before they arrive. STXBP1 is classed as “a rare epileptic encephalopathy” or genetic epilepsy. It is relatively new – discovered in 2008 – and there are fewer than 200 diagnosed, documented cases in the world. TraceRareDiseaseDay

In getting to know some amazing parents of STX kids (Facebook is a wonderful thing!), I learned that there is such a spectrum of symptoms and presentations of STX that no two kids present alike. Most of the children are non-verbal other than a few sounds here and there. Some walk, some do not. Most have uncontrollable seizures that are no match for any known medication. Others (very few) have no seizures but have tremors. Trace is one of these fortunate ones without seizures since those early ones. No wonder it is so mind-boggling. The one thing they do have in common, though, is the adorable STX leg cross! It’s the bright spot of our Facebook group to see all of our amazing kids with their legs crossed as they are chilling out.

Before that genetic test came back, just before his second birthday, there were nearly two years of sleepless nights behind us. Two years of surviving and living the best we could with this baby who just did not seem to be progressing as he should.

I remember when motherhood first entered my radar. I loved it. I dove into pregnancy and research with every fiber of my being, determined to take the best care of myself and to make the most educated decisions for my baby. I took every issue by the horns, determined not to make any impulsive decisions, devoted to questioning everything status quo and its impact on my body and my baby’s. I researched chemicals and vaccinations and circumcision (even while pregnant with a girl). I dabbled in midwifery textbooks, had a home birth (with all four kids!), even attended a midwifery conference. Every possible scenario ran through my mind and I had an answer for everything. But special needs was not one of those scenarios. That was not on my radar.

It wasn’t til my third blessing was born (a surprise BOY, instead of the girl we’d been told to expect!) that special needs entered my life. The child in question wasn’t even my kid. She was somebody else’s child, newly diagnosed with autism, and that was my greatest fear. And at that point, I thought “I am so glad God did not ask me to be a special needs parent. I just could not do it.” Trace was a month old, and I didn’t even know the half of it.

Those early weeks were such a struggle. Trace never slept. Like, not just the normal erratic baby sleep patterns, but He. Never. Slept. He didn’t sleep at night, he didn’t nap during the day. People made light of it, like I was such a wimp for complaining that my newborn wouldn’t sleep. They had NO idea how exhausted I truly was. He cried ALL the time, and I could not put him down for anything, so I wore him in my wrap or a sling around the clock. He had severe reflux and tummy pain that couldn’t be explained or controlled with medicines or chiropractic care or anything else.

The seizures at eight days old could never be explained either. There had been no drugs, no alcohol, no complications during my pregnancy or birth, no pharmaceutical products in his bloodstream, no circumcision, and no ANYTHING that would have caused his brain to experience such distress. All the tests were done, all the doctors were consulted, and they scratched their heads and said he wasn’t getting enough to eat. Period. We went home with massive hospital bills and zero answers. We changed his formula. He got sicker. We changed it again. He lost weight. He ate and ate and ate and ate, because he cried whenever he wasn’t eating, and at three months old he was labeled failure to thrive because he could not gain weight. The sleepless nights and the reflux continued. So did the tears. His and mine.

At five months old, my sweet boy could not roll over. At six months old, he could sort of roll over one direction onto his back, but he couldn’t get back to his belly. He couldn’t grasp anything. I started asking about therapy services and the response was “Let’s wait and see.” I voiced my concern to one person after another, and still I could not get past the statement that all babies develop differently. Meanwhile, my best friend’s baby boy, at a month younger than mine, was sitting independently and trying to pull up on all fours, playing with toys and experimenting with foods. I answered “no, no, no” to every development and milestone question at the 6 month well baby visit. And still the red flags were brushed off and my concerns were ignored. But my momma heart just knew something was wrong.

Let me pause just for a minute and tell you mommas something. This was my third baby in three years. I was no stranger to baby milestones, and to making sure things were moving along at a reasonable speed of development. Yes, Mommas are always a little overly concerned about the ages at which those milestones are met. We are always comparing our baby’s progress to those around the same age. It’s normal. But if your mom instinct says something is off, TRUST YOURSELF and demand to be heard. I only wish I had been much more assertive with those demands a lot sooner.

Another month went by and I went back to his doctor with my growing alarm at his underdevelopment. I said, please listen to me. Something is WRONG with this baby. (By the way, I adore our primary care doctor. She has been an amazing asset on our team as far as getting things done!) This time she happily gave a referral to the neurologist at Arkansas Children’s Hospital. Of course we waited another several weeks to be seen. We were also sent to the growth & development clinic because by this point his milestones were drastically lacking, his weight was concerning, and he still threw up 50 times a day. No exaggeration.

We met with those two departments on the same day. He was ten months old. The first question out of every doctor’s mouth was, “Why isn’t this baby in therapy?” And I said, because nobody listened to me until today and that needs to change RIGHT NOW. They tossed around terms like cerebral palsy, and spinal muscular atrophy and high creatine levels. But there was no answer. His symptoms just didn’t fit the mold of any one disorder or diagnosis. We still had no idea what was wrong, but we knew it was time to do something. The ball started rolling and within two weeks I received a phone call from an organization that would change our lives: Hope Landing.

Trace began therapy services at Hope Landing three weeks shy of his first birthday. In hindsight, I would have pressed a lot harder for him to have started a lot sooner. When he entered therapy, he could only roll over his left arm. He could not roll to the right at all. He could not sit up assisted but would throw himself backwards, forcefully enough to seriously hurt himself if nobody caught him. He would only use one hand, and when I held him, his entire body was slack. He couldn’t bear any weight whatsoever. At almost a year old, he was evaluated as a 2-3 month old infant. We left the office that day (or maybe the next visit) with a list of therapy goals to be met that my other babies had achieved effortlessly on their own. And although I left with hope that these wonderful people would help him to get better, I still left in tears.

It would still be another full year before we got his diagnosis. At that time, I didn’t even know genetic testing existed. I had no idea that the only way to find the name of that demon would be through a whole exome genetic sequencing test that took nine vials of blood from my tiny boy, that cost $24,000 and that the insurance denied. I had no idea, even then, that I was indeed a “special needs mom.”

What I did know was that my baby was still throwing up. That he could not say mama or even babble the most basic sounds. He could scream, and cry, and occasionally he would giggle, but his eyes spoke volumes of pain from reflux and a body that was not working the way it should.

What I did know was that people would ask me all the time how he was doing and I never knew how to answer. I had family members who thought I was crazy and just spoiling him. People said I was just overreacting. Asked me if I’d tried bribing him with food or toys to try to motivate him to crawl.

Then came the food intolerance discovery, and I knew that people thought that I was just crazy and paranoid about his food. They didn’t understand why he was still almost solely relying on donor breastmilk for his nutrition at almost 16 months old, because he couldn’t chew and had no tolerance for any puréed foods in his mouth and would likely starve to death if I stopped feeding him those bottles.

I knew that he was the only one year old in the church nursery who couldn’t even sit up. I thought that I would never sleep more than an hour or two per night ever again.

I knew that our parents were disappointed and concerned that he wasn’t progressing. I knew about the secret phone calls behind my back after family visits, questioning my husband and each other whether I was doing all the right things or making the right decisions, or if I was withholding necessary medical attention because of my high level of distrust of Western medicine. They are good, kind people, and from what I gather, this is par for the course of special needs families when no one is really sure what is going on. But I was absolutely livid and so, so hurt. The truth was, I was doing ALL the things and going to all the specialists, one after another, and nobody could give us any answers. And when we DID get the answer, many months later, it did not come with the crystal ball of the future that any of us had hoped for.

And, I knew that I was already expecting his surprise baby sister just a few months down the road. I felt so guilty over the first half of Mia’s pregnancy. Our news was not well received by either of our families. Everyone kept asking me how I was going to cope with four kids under five when I was already barely surviving Trace’s infancy. I answered positively, but the truth was, I had no idea.

I was devastated. I was defensive. I was terrified. I was exhausted, my anxiety levels were at an all time high, and I was totally out of ideas to help him get better.

But then…I finally asked God to step in. And He changed the story.


Read Part 2

Leave a Reply

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s