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.

Child Number 2, Syndrome Number 2

"Elijah," the young nurse called from an open door.

I took my son's hand and walked with my husband towards the voice. I watched my son step on the scale and have his vital signs recorded. I have seen this scene about a hundred times before with his big sister who has Down syndrome. It was a familiar experience with the wrong child, and it felt weird.

We walked down the white, pristine hallway making our way in a small examination room. I helped my 7 year old son change into a hospital gown. I put a smile on my face and assured my son nothing scary would happen.

It was a true statement. There would be no bloodwork or tests today. There would just be a genetics doctor with the power to diagnose and predict a future. I looked forward to this day, and I dreaded it all at the same time. For over a year, we waited to meet with a doctor who could confirm or negate what was suspected. It had been an excruciating wait at times. Plenty of time to google. Plenty of time to think, notice new concerns, and ponder the future.

A knock at the door brought me back to reality. The first doctor appeared and said, "I've read Elijah's file, but I want to hear it from you. What brings you here today?"

I began with, "We met with a podiatrist over a year ago. I took him there because I was worried about his flat feet and the strange ways his toes bend at times. I was wondering if he needed foot orthotics. After a brief examination though, the podiatrist told me that the joints in toes and feet were loose, which was why I saw his toes bend in ways they shouldn't. But, he also told me that he was loose in all of his joints all over his body. He was worried that he had Ehlers-Danlos syndrome. We saw a dermatologist after that who agreed that his joints were loose and his skin seemed consistent with the diagnosis, but we needed a genetics doctor to confirm Ehlers-Danlos."

A common sight at my house. Elijah is doing something to his shoulder joint that I certainly can't do.

The doctor made notes as I answered her questions. We went back to the beginning, to the unremarkable pregnancy and delivery. I detailed the first time I noticed a "minor" problem. I explained how Elijah received physical therapy for a few weeks at age 2 for in-toeing and tripping while he tried to run. I mentioned that from toddlerhood, Elijah has always sat in a w-pattern on the floor, and he often slept on his belly with his knees tucked under him. I recalled the time when he was three and diagnosed with a developmental delay by our school district, showing large delays in fine and gross motor. That's when the label hypotonia was given as well. Elijah began occupational and physical therapy through the school at age 3 and continues PT five years later. I described his difficulty sitting down for long periods of time due to what he describes as being "uncomfortable." Because it's uncomfortable to sit, he stands which causes his legs to overwork and get sore.

The doctor did a brief examination before leaving the room to talk to her attending doctor. The next knock on the door brought both doctors inside. We answered and asked more questions.

"Why is a diagnosis important to you?" one of the doctors asked with a gentle tone.

"If he has this syndrome, then we want to know how to prepare for the future and help him now. As a couple, we have different views on some issues of Elijah's. My husband and I have disagreements on what is hard for him to do because of his muscle/joint issue and what is him just not putting in enough effort. We're hoping to stop some marital disputes over this," I jokingly said.

They assured us that the disagreements probably wouldn't all be resolved today.

Then, the examination began. Every inch of my son was examined. Some body parts received a quick visual inspection (like his ears). Others were given several moments of attention. His skin was felt and described as "soft and velvety." The joints were all manipulated and assessed. From my previous readings, I recognized part of their examination was the Beighton Score. The Beighton Score is one aspect of judging hypermobility (or looseness). Elijah scored 7/9; he was loose for sure. He could easily do things like bend his thumb to reach his forearm.

There were moments when I gasped while my son's legs were stretched and moved; I couldn't believe how loose his joints really were. After this very long examination, the doctors sat down to say what I expected.

"He does have Ehlers-Danlos syndrome, type hypermobility with hypotonia."

At that point, the doctors were on the hot seat, and we were allowed to ask the questions:

"What do we need to avoid to ensure his joint safety?"

"What can we do to help him?"

"When can we expect his pain and other common difficulties to get worse?"

"How is pain frequently managed?"

After all of our questions were answered, we shook hands and parted ways. 

That night at bedtime, I asked my son, "Did you understand what happened today? Do you have any questions?"

"I just know I'm really bendy."

"Yes," I replied, "and now we have a name for it. It's called Ehlers-Danlos which means you have really loose joints. You are fine now, but if you start to have pain or your body starts to feel different, then you need to let me know."

After prodding he bravely asked, "Am I going to have to go in the hospital or have a heart surgery like Jaycee?" 

I answered his questions before collapsing into my own bed. My mind was focused on one connection. I had two children diagnosed with two different syndromes. What are the chances of that?

With this child though, I am smarter. I know to take this diagnosis one step at a time instead of trying to digest possible outcomes and plan for future what-ifs right now. I know that Ehlers-Danlos is not the focus. It is a little boy who likes to ride dirt bikes, build with Legos, play guitar, and tour state capital buildings. For now, he is happy, and his world seems right. Why should I turn my world upside down? 

Guest Post: 5 Life Lessons I Learned During My Daughter's Therapy Sessions

This week my daughter is recovering from a hospital admission, so some wonderful bloggers are guest posting. Today's guest post is by Ali C. from the blog Crazy Cakes and Eskimo Kisses. I could relate to this piece so much when I first read it, and I hope you enjoy it too! ~Evana

My daughter began physical therapy when she was only four months old.  At the time, her hypotonia made it impossible for her to even lift her head, and her gross motor skills were extremely delayed.  I spent my days watching the therapist try to teach her how to roll over, and in the evenings, I did my best to imitate what I saw the therapist do. In whatever spare time I had left, I prayed that therapy would be the key to building up her strength and unlocking her potential.

And the days turned to months, and the months turned to years.  Rolling over turned into crawling, and crawling turned into walking.

I have no doubt that the early intervention my daughter received played an integral part in where she is today -- an age appropriate classroom, running, jumping, and dancing. But it wasn't until recently that I realized her therapy sessions taught me some valuable life lessons as well.

1. Measure life in inchstones; forget the milestones.  Technology makes it all too easy to quickly search developmental skills that your child should be reaching.  Social media makes it even worse. Often times, I was saturated in a sea of milestones -- reminders of what my child should be doing but was not.  While I was sincerely happy to see the accomplishments of my friends' children, I was also often left trying to shrug off feelings of envy and defeat.

Therapy taught me the beauty of an inchstone -- a small but powerful accomplishment. Sometimes in life, we become so focused on the mile, that we forget all the sweet inches that led up to it. Count what truly matters; ignore the rest.

2. It is OK to be afraid, but don't let your fears consume you.  Some days, it feels as if there is so much to fear -- medical procedures, surgeries and an endless slew of doctors around every corner. For the first two years of my daughter's life, I spent my nights worrying that she may never walk. I cried about the huge obstacles stacked against her. I cringed each time we were sent to see a new medical specialist.  And then, the other day, my daughter asked to take gymnastics.  I felt that old familiar fear immediately strike. What if she couldn't keep up?  What if she got injured?  I looked to her therapist for insight.  Her advice?  Don't let your fears stop your daughter from trying something new.

She was right. It is true that there are risks everywhere in life, but they are often accompanied by great rewards. Be bold. Don't let fears stop you from living.

3. Determination is key. Before my daughter started physical therapy, I gave up easily -- if something was too hard, or too time consuming, or if I was too tired. I gave up on diets. I gave up on projects. I was all too happy to be a self-proclaimed "quitter." Observing my daughter learn to walk uphill taught me the importance of a determined spirit.  I watched one day as her therapist helped her walk on the uneven ground sprawled out in front of them. My daughter's legs wobbled, the surface below her was soft under her feet, and more than once, she fell forward onto the unkind ground. But, she never gave up.  Fall after fall, she stood up more determined than the time before to master the hill.  Eventually, she did. 

Often times in life, we stand with unsteady legs on uneven ground. How many times we fall is not what makes us or breaks us.  How many times we pick ourselves up and start again is what defines us in the end. Falling is inevitable; picking yourself back up is a choice. Determination makes all the difference.

4. While determination is important, there is nothing wrong with taking a break.  There were moments during therapy sessions when my daughter would become tired or frustrated. I would watch as her therapist responded in various ways: She would give her a break.  She would redirect her.  She would remind her that if she finished the task at hand, they would do an activity of her choosing. And it worked. Every time. As an adult, I too experienced a daily helping of exhaustion and annoyance, but I rarely gave myself a break to recoup, relax and recover.   

When life throws difficult tasks or extreme stressors your way, do not hesitate to take a break. Read a book, go for a walk, listen to music. Allow yourself to recharge.  You are worth it. Frustration will not allow you to accomplish much, but a rested you with a fresh outlook is undefeatable.

5.  Hope is powerful.  With each fall, my daughter's therapist reminded me that we were a step closer to walking. In times of darkness and defeat, she recalled the many moments of light and triumph we experienced. When I focused on the obstacles and worries of today, she refocused me on the promises of tomorrow.

Therapy taught me this truth: In our lives, we will experience defeat and sadness.  There will be days when we are unsure of everything. There will be moments when giving up seems to be the easiest option.  We will compare and cry. We will feel extreme fear and bouts of envy.  But, at the end of each day, there will always be hope, and that is more than enough.

You can read the original post of this here!

31 for 21: Down syndrome & Physical Therapy

It's Tuesday, which means therapy talk for today's 31 for 21 blog.

Physical therapy has been part of Jaycee's life since she was an infant.

Let me be honest, when Jaycee was 2 months old, I wondered how physical therapy would be helpful. I understood she had Down syndrome. I knew that Down syndrome is associated with low muscle tone, which in turn makes the child very, very flexible. Because of this, developmental milestones are usually met much later. So, I consented to physical therapy not really knowing how it would be helpful when she was so tiny.

In one of her first physical therapy sessions, Jaycee was attempting to roll over. This being my first child, I thought she was doing well. The physical therapist pointed out that Jaycee was trying to roll over by hyperextending her neck (picture her chin being lifted up high). In other words, she wasn't using her muscles to roll over, she was using her flexibility to do an atypical movement.

She kept her neck hyperextended often when she was laying on the floor. Again, I thought this was what every baby did. Where did I put the toys with her neck hyperextended? Way up high where her eyes were, of course.

Jaycee's therapist, Glenna, showed me that hyperextension wasn't good, and I could help it stop by putting toys lower to force her to look down. I also was encouraged to put towel and blanket rolls behind her neck and head so that her chin would stay down toward her chest instead of up too far.

So a few sessions in to early intervention physical therapy, I realized that this was going to be very helpful for both Jaycee and myself.

Physical therapy has been instrumental in helping Jaycee learn motor movements and accomplish gross motor milestones such as running, jumping, and climbing stairs. Over the past few years, physical therapy has worked to build Jaycee's endurance and keep addressing her low muscle tone. Except for summer vacations or short breaks, Jaycee has essentially been in physical therapy since she was 2 months old.

Physical therapy has made a difference in Jaycee's life. I'm so glad we started early.

Jaycee doing a gross motor game at Special Olympics with her helper

Ortho to the Rescue

What in the world is wrong with Jaycee's feet?

I asked myself this question this winter. As she recovered from an illness that severely weakened her muscles, she slowly got her strength back. She learned to walk again but her feet turned out. Of course, her feet have always turned out a little bit, but this was noticeable. In fact, I got her a cute pair of winter boots like normal, but she couldn't walk very well in them. She didn't walk very well in any shoe that wasn't supportive. Basically, she needed to wear tennis shoes all the time to walk easily.

When she was barefoot, my inspections continued. I couldn't quite put my finger on what was wrong, but her feet looked odd when she was standing, especially her right foot.

 



Her foot rolled in and it was noticeable around the ankle area. Her feet are flat too. I'm not sure if this has always been going on and it was mild, so I didn't notice. Or, maybe it did all start after her illness due to muscle weakness and some weight gain. After months of waiting for things to improve, I finally did something.

I took Jaycee to a pediatric orthopedic professional. She told me Jaycee needed physical therapy and not orthotics. Ok, I was fine with that.

A few weeks later, I took Jaycee for a physical therapy evaluation at the same pediatric hospital. The person did note weakness but also recommended orthotics for her feet.

Really? Sometimes navigating the special needs world makes me want to throw my hands up and scream! I was glad that I met someone that agreed she needed some orthopedic support, but I just wish the first person would have came to that conclusion.

Fortunately, an orthopedic person was in the physical therapy office the day we was there. They took casts of Jaycee's feet. We picked out Jaycee's favorite colors for the straps (shades of green).

A few weeks later, we went to the lab to get her new "braces." Here they are:

 

These are to be worn with shoes to help her when she's standing and walking. But this picture is to give you an idea of what they look like. 

 

Here they are with the shoes on. The shoe hides most of it. I had to buy extra wide tennis shoes and taller socks. No more walking into any old store and buying shoes.

I hope this helps support Jaycee's feet better. We're in the process of breaking them in right now. She's tolerating them so far.

So, we are officially in the world of orthotics now. Add that to our list of things to do each day. But, if it helps, it will be worth the time and energy.