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? 

Therapy Tip: Why Puzzles Are Great for Toddlers

It's Thursday! That means it is time for another tip based upon my experience as a pediatric speech-language pathologist and a mother of a child with special needs. Today's tip is:

Why Puzzles Are Great for Toddlers

I love using puzzles in my speech therapy sessions. One reason why a puzzle is such a great therapy tool is that it targets many skills in different areas of development.

Puzzles work on:
-hand-eye coordination
-problem solving skills
-fine-motor abilities as the child uses their fingers to place pieces in
-vocabulary/concepts as the child can learn these through the subject matter of the puzzle
-memory as the child sifts through the pieces and tries to place them correctly
-task completion since there is a beginning and a definite end to the task
-matching or shape recognition

The cognitive, motor, and language benefits are all there when a toddler is completing a puzzle. The key to success is finding a puzzle that is on the toddler's developmental age. To help you discover where this is...

Here are some things I think about when I am choosing puzzles for toddlers.

-Number of pieces:  The number of pieces is pretty self explanatory. The fewer the pieces; the easier the puzzle will be to complete. I typically start with a puzzle that has 10 pieces or less with a toddler. If a child is closer to 12 months old, I usually start at the chunky 3 piece puzzles.

6 Piece Chunky puzzle from Melissa & Doug with no pegs

-Pegs Versus chunky pieces: Some puzzles have chunky pieces so that the toddler can easily grip the piece. Other puzzles like the one below have a tiny piece of plastic or wood in the center which the child can grasp. The pegs can make the puzzle a little more challenging as the child is forced to use a pincer grasp instead of using their whole hand to manipulate the piece. A word of caution with pegs: I have noticed that some children, especially those with autism, can get too distracted by using the peg to twist and spin the pieces instead of completing the puzzle.

9 Piece Peg Puzzle from Melissa & Doug with Pictures to Match Under the Shape

-Picture cues underneath: Some beginning puzzles have pictures underneath the piece that allows the child to match pictures to complete it. The shape puzzle above is an example of one that helps the child see what piece should go in each spot by providing a picture. Those that do not have pictures underneath are more difficult since the child has to do shape recognition to find the right piece rather than simple picture matching.

Simple Scene Puzzle from Melissa & Doug

-A scene puzzle Versus individual pictures: The shape puzzle (2nd picture above) is an example of a puzzle with one theme but individual pictures. These type of puzzles are much easier than scene based ones. The other two puzzles pictured here are examples of scene based puzzles. These are visually more distracting since the child has to look through and decipher where the piece goes in the scene. The bear puzzle pictured above is a more difficult scene picture because for it to be completed, pieces must be placed in a specific order to make the next one fit.


Overall, puzzles for toddlers can have a range of possibilities and options. Sometimes, parents will buy a puzzle for their child and discover that it is too difficult for them. They may not understand why. I hope by explaining the 4 main things I look at when choosing puzzles, you will be able to select a puzzle that is most appropriate for your child or understand why one puzzle might be harder for your child than another.

All puzzles pictured here can be purchased from School Specialty.

Therapy Thursday is for educational purposes only and not intended as therapeutic advice.

Therapy Tip: Winter Sensory Bin

Welcome to Therapy Thursday! This is the day I share a tip based upon my experience as a pediatric speech-language pathologist and a mother of a child with special needs. Today's tip is:

Winter Sensory Bin

Sensory bins are a fun and popular activity for young children. Sensory bins are simply containers filled with an item meant to provide some sort of texture to the child as they dig and feel around while playing. Other items are placed in the bin based upon the fine motor skills that are being targeted or vocabulary that is being addressed.


Working in homes of toddlers, I try to make up small sensory bins several times a year. Traveling from home to home, I pack a shoebox sized container for my sensory bin. This container is just the right size for one small child to play in and is easy for me transport. I generally don't fill the container completely full since some of the toddlers I work with will end up dumping out the contents.

This is an example of a winter sensory bin I do.

The base of the bin is simple cotton balls. These cotton balls provide a soft texture for the toddlers. After they dig around, I will usually rub the cotton balls on the child's hands and face too.

Here are some of the objects I put inside it.

For my winter sensory bin, I chose to focus on the color white, so that dictated what objects I put into the bin. Besides the cotton balls, I have a couple of white cups (plastic and Dixie), a couple of rabbits, a spider ring, white/black tiger, a cow, and an ice cream and egg from a play food set. Sometimes, I include items like white Styrofoam balls, white pipe cleaners, or white measuring cups. Generally, I use things laying around my home so that families can somewhat replicate my bin if they choose.

Using the items from my sensory bin described above, I can easily target many language skills. These include:

-Actions words: Dump, scoop, eat, drink

-Adjectives: White, soft, full, empty

-2 word phrases: White spider, Put in, Dump out, Hop bunny

-Vocabulary: Bunny, spider, ice cream, etc.

To work on these skills, I just play along side of the toddler as we dig through the bin. It's that simple!

The most important thing about any sensory bin is to find something that will meaningfully engage the child you are working with. I hope this gives you an idea for creating your own.

Therapy Thursday is for educational purposes only and not intended as therapeutic advice.

Therapy Tip: Buttons, Zippers

Happy Therapy Tip Thursday!

This is the day that I share a tip based upon my experiences as a pediatric speech-language pathologist and a mother of a child with special needs.


Today, let's talk about buttons and zippers.

Teaching my daughter with Down syndrome and hypotonia to button and zip was very difficult. Fine motor has always been a hard area for her since the beginning. Truth be told, at age 10 she still struggles with buttoning and zipping. We're still trying to master it.

Here's some ways I have worked on buttoning and zipping with Jaycee over the years. Her little brother grew up with these things too and happily used them to learn these skills as well.

1. The Basic Skills Board from Melissa & Doug

I was so excited when I found this puzzle. All the pieces come out for a regular puzzle plus there's the bonus on each piece to work on zipping, snapping, buckling, buttoning, and tying. This puzzle was extremely hard for Jaycee as a pre-school student. I had to help her complete it hand-over-hand. My son had better success with this puzzle without needing help.

2.  A Dress Up Doll

Jaycee had a few dolls similar to this one with buttons, zippers, buckles, and Velcro. Again, I found my son had an easier time with this doll compared to Jaycee. The small zipper and buttons were very difficult for Jaycee to get a hold of and complete. However, it was good to have more than one method to try to teach this skill.

3. The Dexterity Vest

This vest is probably the most successful thing I found with Jaycee. She did better with life-sized buttons and zippers. These buttons are actually a little bigger than most helping her have more success. To me, it was more helpful for her to practice an item she could wear too. This item was purchased from School Specialty.  They sell a variety of these vest but this is a combination one that she eventually learned to do.

Learning to button and zip takes time, patience, and practice. These are just some of the specific things we tried to help Jaycee learn these skills. Improving overall fine motor skills will also help children be ready to learn how to zip and button.


Come back next Thursday for another therapy trick!

This information is provided for educational purposes and not intended for therapeutic advice.

Wanting Something

To celebrate Jaycee making it through the hospital, we got out of the house last week for some shopping. It wasn't my husband's definition of relaxation and fun but he went along. We found ourselves at the toy store and told the children they could each get a toy. As soon as Elijah found out the store had Thomas the train items, he was elated. He likes loves Thomas the train. He's borderline obsessed with it. It doesn't matter if it's soap, toothpaste, socks, or a book--if Thomas is on it, Elijah wants it. Here, you get the idea:

At the store, Elijah had to figure out which toy he wanted. He was so excited at the enormous amount of train items he hasn't collected yet. He ended up with the a signal for his wooden track. 

Taking Jaycee to a toy store is a different story. The only thing Jaycee ever wants from a store is a movie. She's six years old, but she doesn't really have an interest in any kind of a toy. She's been that way for a long time. I have spent lots of money over the years trying to find a toy that she would love and play with on her own. If I sit and play with her, she'll play with different toys. If I leave her alone in a room full of toys, she basically scatters them or sits and stares at the wall.

I know it's hard to believe but it's true. I have thought about why she is like this many times. Theory number 1: She started receiving weekly therapy at just 2 months old. Jaycee got use to having people lead her through activities at an early age and became dependant on that.  Theory number 2: Jaycee's fine motor skills are very poor. Any toy that requires using the hands like puzzles, coloring, blocks are all difficult for her. I once got her an adorable baby doll but she got frustrated when she couldn't get the baby bottle in the doll's tiny mouth. Fine motor skills are used everywhere. You just don't realize it until you have a child with fine motor issues.

So, taking Jaycee to a toy store usually results in nothing. I will show her toys and she usually swats them away. Sometimes, she will choose a toy but then throw it on the floor which tells me she doesn't like it. A few times, a selection has made it all the way to the shopping cart only for her to throw it out. Jaycee isn't the typical child. She doesn't want anything really. Elijah is the opposite. He sees things he likes and wants them!

At the store, I went straight to one of her favorite characters, Olivia, a pig in a cartoon she watches. I showed her several Olivia items including a 3 foot tall stuffed Olivia. She got a smile on her face. She checked out the toys but vetoed the giant Olivia. She finally selected two small stuffed Olivias. She picked them up and sat in her stroller. She held the "babies" all during Elijah's long selection process. I waited for her to chuck them at any moment but she didn't. She held them in the van too. She wanted to take them into the next store we went in. It was great to see her actually want something. Elijah does this all the time but not Jaycee. This is the kind of thing we enjoy seeing her do because it doesn't happen often.

Has she continued to play with her babies? A little bit but a little bit is more than she usually does. It's great! Here she is with her babies: