My Son's Diagnosis was Missed Again and Again

When my son was 7 years old, a genetics doctor at a children's hospital confirmed that he had  Ehlers-Danlos syndrome. (The details of that appointment are described on this previous post.) The diagnosis was met with a mixture of emotions. Many things that puzzled me for years made sense when understanding his confirmed diagnosis. I was grateful to finally have answers, because other professionals didn't try to give me any.

My initial concerns with Elijah started when he was 2. He couldn't run without tripping. He was treated for in-toeing and uncoordinated gait with physical therapy. He made progress quickly- compared to what I was accustomed too. In contrast, his sister with Down syndrome rarely made quick changes in any therapy. The progress made it easy, in some ways, to hope his issues were minor. He was discharged from therapy having met his goals in a couple of months. Things were better, but they weren't perfect.

When he started preschool, it wasn't long before his teacher picked up on some issues that I noticed as well. He was a constant w-sitter (his legs were always out to the side making a "w" shape). He couldn't do things that other children his age could do such as pedal a tricycle, skip, run fast, or jump. He had a hard time sitting on the floor without back support. Physical therapy and occupational therapy evaluations were completed. To my surprise, he did so poorly on his fine and gross motor assessments that he qualified to receive therapy for both. That is when he was officially given the diagnosis of hypotonia (low muscle tone), which was new information for me.

To say I was rattled by the evaluations was an understatement. I had many worries about my son in his short 3 years of life, but some things seemed minor. They were almost easy to dismiss when considering everything; he had an amazing memory and in-tact cognitive skills.

A few weeks later having many more questions than answers, I made an appointment for Elijah at a children's hospital two hours away to see an orthopedic doctor. I wasn't sure who to call but the bones of his toes seemed atypical, so I thought it might be a good place to start. Given his recent motor evaluations, I felt I had reason to be there. I wasn't sure what to expect from the orthopedic doctor. I didn't think I would get all my questions answered, but maybe it would be a step in the right direction. It wasn't unfortunately.

I first met with the nurse who took down my concerns. Quickly, we were ushered back to x-ray for pictures of his hips as they wanted to rule out hip dysplasia. Next, we waited to see the doctor. I told her about my son's low muscle tone and recent OT and PT assessments. I detailed how he always slept with his knees tucked under him and always sat in the w-pattern. I'll never forget what she said to that concern.

"Many therapists get caught up on w-sitting. It's not that big of a deal. I wouldn't worry about it."

From that, I knew that I would get no answers today. The rest of my concerns were heard, and she watched him walk down the hall about 10 steps.

Then, she declared he was fine.

Was I overreacting? Was I worried about nothing? Was this just the wrong specialist?

I was confused. I felt like she blew me off, so the appointment didn't convince me that nothing was wrong.

I let "finding an answer" go for almost a year. During that time, I saw my son struggle in motor activities and his gait was still atypical. I went back-and-forth during that time. He's fine. He's not fine. I worried about him. I decided he's probably fine. Back-and-forth, I bounced.

Then, I found out a nearby town was having a free orthopedic clinic. The flier stated to make an appointment if you have concerns about your child's coordination, walking, etc. My son seemed to fit the descriptions. I decided to give another orthopedic specialist a try. It was free after all.

This appointment was a bigger disappointment than the first. I think I spent about 3 minutes with this doctor. He moved his legs around and listened to me. He was even quicker to tell me there was no problem with him. He didn't even watch him walk or move.

I was done with orthopedic doctors. They weren't the ones who could help my son. I didn't know where to go next. Genetics never dawned on me.

Some time went by. I became increasingly concerned with Elijah's feet. His sister wore braces for her flat feet and the fact that her feet rolled towards the inside. His feet weren't quite as bad as hers, but I wondered if he might need support. The bottom heel of his shoes wore out quickly (sometimes in a matter of 2 months). He was obviously walking differently which was a concern too.

When Elijah was 5 years old, I made an appointment with a local podiatrist. I didn't know if this person could help him, but maybe I would finally get some advice. I went to the appointment with low expectations. I live in a rural area, and this was a local specialist. I figured he didn't have much pediatric experience, but I was hopeful he could see the problems I noticed with his feet.

This podiatrist would change everything. Within a minute of being there, (seriously a minute) I had a name for my son's condition. He immediately saw what I perceived as his toes bending in odd positions. He told me his bones were fine, but the joints in his toes were loose, which allowed them to move in ways that ours can't. Then he moved his ankle around. He marveled at the looseness and flexibility present. Then he looked in the direction of my son's face and said, "Look at how he's got his arm."

Elijah typically held his shoulder and arm in weird positions. They were normal for him, but I couldn't do those positions. The podiatrist proclaimed, "He's loose all over. It's not just his feet. He has Ehlers-Danlos syndrome."

"No way," I remarked. I knew a little bit about the syndrome from my profession. I have met children with all sorts of conditions over the years. Elijah presented differently from the ones with EDS that I encountered. It had never crossed my mind that he had it. I didn't want a life-long diagnosis for my son. I wanted an answer that had a nice fix or treatment. Ehlers-Danlos syndrome wasn't something we could "fix;" only something we could support.

"You don't believe me? That's fine. I'm telling you that he has it," the doctor said as he manipulated all his joints, pointing out things he saw, and asking me questions. He admitted he hadn't personally seen a case in a number of years. He seemed almost excited to see such a rare case again.

I retorted back, "It's not that I don't believe you, but I've been told he's fine by other people. I'm just shocked."

"He's far from fine when it comes to his joints."

The appointment was long and thorough, which is what I was looking for during my other attempts at a diagnosis. I came to the podiatrist looking for foot orthotics for my son, which he received. But, I left with so much more. It was the beginning of the journey to an official diagnosis. He encouraged me to seek another professional to confirm the diagnosis.

It took over a year to get into genetics where another long and thorough appointment confirmed what the podiatrist thought. Information and answers were all I received. There was no magic fix. However, my mind was finally reassured.

I was not crazy. I was not an overreacting parent. I was not turning nothing into something.

In fact, I was very perceptive. I was observant. I was intuitive. I was being a good mother.

I am grateful that my son received a diagnosis at age 7. I have read many stories of people struggling for years and years before they were diagnosed with Ehlers-Danlos syndrome. I'm grateful we only had a few people dismiss his problems and were led on the right track in the span of just a few years.

I share this story as a reminder that moms need to trust their instincts. One specialist may not catch something, because it's not their area of expertise or they aren't expecting to find a rare condition. Persistence paid off in our case. Thankfully, I found someone who finally listened to me.