“The Long and Winding Road” – Amy

Ben smiling, wearing a preppy sweater

“The Long and Winding Road” – Amy

Not having a diagnosis for your child when you know something is wrong is like driving your car somewhere you’ve never been before with no directions. All you know is the general direction, and you keep moving that way, but you’re really not sure you’ll make your destination because you don’t know how to get there.

newborn baby BenFor the first 4 ½ years of Ben’s life – that was us. We knew he needed Occupational, Speech, and Physical therapies, and that he would go to Special Needs Preschool in our school district. We knew we needed to continue following up with and seeing new doctors, and running whatever tests or treatments they suggested. We could see that Ben was progressing, so we knew we were moving in the right direction. But where were we going? And for how long? The hope that one day he’d all of a sudden start speaking sentences? Be a normal 4 year old? That something magically would change? Or never change?

To say the least, it’s been a long and winding road in a relatively short period of time. Here’s where we’ve been and how we got here.

There were two strange issues early on in my pregnancy with Ben. Despite it being an easy pregnancy, we found out more on his 16-week ultrasound than just his gender. We learned he had calcifications on his liver and an ecogenic bowel. In other words – the liver repaired itself from damage, and he had waste in his bowel a little earlier than he should. They didn’t know why, but suspected I had some sort of infection that crossed into the placenta. We were scheduled for monthly ultrasounds to follow up on his health until he was born. All seemed fine as we progressed and he was determined healthy at 34 weeks. His birth was perfect, and so was he.

At around three months I noticed that Ben wasn’t quite holding his head up like his brother had. At six months, he wasn’t sitting up on his own yet, and wouldn’t do so until he was nine months. At his nine month well check, I inquired about a bump on his right rib that didn’t seem right, which turned out to be because of a crooked spine. Shortly thereafter, he was diagnosed with idiopathic infantile scoliosis. And he was referred to Help Me Grow for early intervention for his delays. At the time, I chalked this all up to hypotonia, or muscle weakness, somehow related to the issues in utero.

Ben in his first castTreatment for scoliosis consists of what’s called a Mehta cast. It’s a plaster torso cast with cutouts for the stomach, and a d-shaped cut in the back to correct rib rotation. Ben got a new cast every 6-10 weeks for 8 months. This made things even harder for him. The cast meant he had to learn to sit again. He had just started to crawl before the cast, and wouldn’t do it again for a year. When the casts finally came off for good, he was in a back brace for a year. At this time I thought that the casts were responsible for his mobility issues, and were holding him back from speech, but that ended up not being the case.

Ben finally learned to walk at 2 ½ years old, after he was out of the back brace for eight months. Clearly the scoliosis wasn’t the issue for any of his delays – there was more to it. We also didn’t know if his issues in utero connected to this as well, or were just an anomaly.

This is when we entered into the “global developmental issues” phase – an ambiguous, unsatisfying, and yet, somewhat hopeful diagnosis. It gave us a false hope that there was a chance that Ben would eventually just start talking one day, or gain weight, or be able to do the things he couldn’t do today. And all we could do was hope that we were doing the right things for him in the process.

After lots of specialists – gastrointestinal, infectious disease, ENT, orthopedics, developmental, feeding clinic, and genetics – we finally got results this January of a genome sequencing test that showed Ben had the X-linked chromosomal error indicating Creatine Transporter Deficiency (CTD). Blood and urine tests confirmed it.

Ben smiling, with head tipped to the sideUnderstanding the condition, symptoms, and hearing the stories of other CTD kids brought a sort of finality to that hope we had that things would magically right themselves, but also a purpose to our efforts. We now know what we are dealing with, and there is another type of hope – that there are others like Ben, and people out there who care about CTD and are working on developing a treatment.

So now, we are still in the car and we know we are headed to our destination. We still aren’t quite sure how to get to there or what it will look like, but we do have something else this time – people to seek advice from and an understanding of the terrain. While there isn’t quite a map to help guide the way, and we aren’t sure where we will end up, we know more than we did before and for that we are grateful.

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