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-Balancing Therapy at Home

Here it is...Therapy Thursday! This is the day that you have been waiting for all week.

Thursday 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:

Help for Balancing Therapy at Home

Being a parent makes life busy. If you are a parent of a child with developmental delays and/or a disability, life gets even busier.

When Jaycee was 2 months old, I started her in home early intervention therapies such as physical therapy or occupational therapy. Before she turned 3 years old, she had 4 different therapists addressing different areas of delay. These people were extremely helpful. Part of their job was to give me ideas to help Jaycee at home. If you have 4 people giving you ideas every week, then you might understand why I felt overwhelmed at times during those toddler years. While they did their job well, I felt I HAD to do home practice with Jaycee or else I was a bad mother. I also felt her progress or lack thereof was a direct result of what I was doing with her at home. It was extremely hard finding a balance between helping Jaycee with her developmental needs and not feeling crazed by the home activities that needed to be done.

Now that Jaycee is 10, I have a better perspective. Our life does not center around therapy appointments and home intervention practices. However, my job as a pediatric speech-language pathologist means that I am still in a position of offering families ideas to build skills with their toddler at home.

Here are some things I tell these parents in our on-going discussions on how to help at home:

-How much home intervention by parents is enough?
Every parent and family is different. Some parents like to focus on specific tasks throughout the day. For instance, they may focus on getting their child to say "drink" whenever the child is thirsty. Another example would be going over a few body parts at bath time during the week. Some parents like spreading out the home interventions throughout the day in natural routines. That is how the birth-three program is designed to help parents.

Still, other parents like to block off times to work with their child. This is what I always preferred with Jaycee. I set aside 20-30 minutes a day working on various tasks. I made a chart (I know I'm strange) marking what I would do for the 5 blocks of time a week. One day would be a sensory activity, another would be gross motor, another would be a signing/language activity, etc. It is not to say that I ignored Jaycee the rest of the day. I merely liked having our home therapy time together and then scratching it off our list of things to do. I did not like spreading things out all day. It didn't work for my brain.

Deciding what is enough is difficult. It really depends on your child. Speaking as a parent, if home intervention is causing lots of stress, then it's time to reconsider what you are doing.

-Can we have days off?
Yes!! Everyone needs a day off! Please take a day off from therapy and just enjoy your child. You are probably doing things to help them throughout the day that you aren't aware of. So, even on your days off I am sure there is something you are doing to help your child in a natural way.

Near the end of my daughter's birth-three program experience, she sometimes had two, 1 hour therapy sessions in a day. On these days, I did nothing specific to "work" with her. I imagined she had enough therapy already and didn't need me to do even more.

-You mentioned that I am helping my child naturally. What do you mean by this?
There are many ways parents build language naturally with a toddler. Many parents just instinctively do these things. Here are just a few examples:
-Peek-a-boo and patty cake are social games that we often play with toddlers. This encourages social interaction, which is an important component of language development.
-Nursery songs are also commonly sang to babies and toddlers. Songs like "Wheels on the Bus" or "Itsy Bitsy Spider" are great for language because they are repetitive, encourage vocalization, and also encourage imitation as we look for the toddler to mimic the motions as we do them.
-Simply playing with your child is another good way to help them. When you play with them, you are modeling words and showing them how to play with toys. This encourages them to imitate what you are doing and saying.
-If you are talking to your child, you are modeling language. The main way a young toddler learns language is by hearing it from another person. If you are speaking to your child, then you are helping them understand new words and hopefully (and eventually) say those words.
-Giving your child directions is a way to target receptive language (the understanding of language). By telling your child to 'come here,' 'give it to me,' 'get your cup,' 'give me five,' 'give me a kiss,' you are checking your child's understanding of language via simple directions.
-Books are also things that parents often naturally do. Reading books encourages the child to look at pictures, build vocabulary, and attend to an activity that requires listening.


Finding a balance between therapy needs and home life can be difficult, especially if your child has more than 1 area of delay. It is important to find that balance to maintain healthy relationships among family members and to decrease stress that may arise. I hope that I have showed you that approaching therapy can look differently from one home to the next. If you are needing help finding this balance or for some better strategies to integrate activities into your daily routine, please ask your child's therapist.

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

Therapy Tip: Holding Bottles

Welcome to Therapy Tip Thursday!

For you newcomers, this is the day that I give a tip based upon my experience as a pediatric speech-language pathologist and a mom of a child with special needs.

Today's tip is for:

Helping A Baby Hold Their Bottle

When my daughter was a baby, I could not get her to hold her bottle. Due to her Down syndrome, she had low muscle tone and short fingers. She had a heart condition as well which meant her stamina was poor.

Today's tip was born out of desperation. I wanted Jaycee to hold her bottle. I tried cupping her hands on it, while giving her support with my hands over hers with no results. The only success I had was with a very small two ounce bottle from the hospital which was skinny enough for her to hold in her small hand. A two ounce bottle was not practical all the time though.

Jaycee was on a bottle for a prolonged period. Her oral-motor abilities were poor for drinking and eating. She was on a bottle until around age 2 when I was finally able to transition her to a sippy cup and straw. Her health and calorie intake always dictated how fast we could move her through feeding milestones.

When a child isn't doing a developmentally appropriate skill, I think it's always important to think of supports to help them rather than view the child as just obstinate. I wondered how I could help Jaycee hold her bottle to be more independent. Then an idea came to me. I made it, and it worked the very first time I tried it! Using a can koozie (a.k.a. can hugger), I made a support for Jaycee's bottle.

To replicate this, you will need scissors, a can koozie, masking tape, and the baby's bottle. The idea behind this is create little holes in the sides of the can koozie for the baby's fingers to slip through in order to support baby's hands in holding the bottle.

Here's how to make it:
First, place the bottle inside the koozie. If your bottle is loose in the koozie, use the masking tape to tighten up the koozie by wrapping the tape around the bottom and the top of the koozie. The can koozie needs to be tight enough to stay on the bottle. Next, make 4 little slits on each side of the koozie for the baby's fingers to slip in the koozie and on to the bottle. You might want to use a marker to mark the spot where the baby's fingers naturally hit the koozie with the bottle inside. The slits should not be too tight on the baby's fingers. They should not cause pressure on the fingers or hurt the baby. Of course, this support should still be used with an adult present.

Now, you should be ready to give it a try. Place the baby's prepared bottle inside the can koozie. Gently place the baby's fingers in each finger slit. Hopefully, this should give your baby support to hold their bottle. If it doesn't work the first time, don't give up. Give it another try!

This worked the very first time I tried it with Jaycee. I felt that I witnessed a miracle with this can koozie. I hope it helps your baby too!

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

What if...?

There are moments that make you wonder. Maybe you noticed something that just didn't seem right with your child. Maybe you noticed a significant difference in the development between two of your children. Or maybe you found something odd on your child's body. There could be a multitude of scenarios that have now caused you to have a thousand questions like:

What if...my child isn't going to outgrow this problem?
What if...something serious is wrong with my child?
What if...the doctor missed something?
What if...the teacher's concerns are valid?
What if...this isn't just a phase?

There are questions about our children that can haunt us as parents. The questions are sometimes too scary to even ask out loud. These questions keep us up at night, make us second-guess ourselves, and leave us feeling stressed and anxious.

The answers to these questions are needed but finding them may be difficult. Perhaps, you tried before to get some answers but you got absolutely no where. Perhaps, you were made to feel like an overly worried parent when you brought them up to a therapist or doctor. Perhaps, you want answers but your spouse doesn't. Perhaps, you are scared to find the answers and keep waiting for things to change on their own.

The answers to these "What if?" questions could possibly be life-changing and have long-term consequences. Facing the reality of the answers could result in an emotional and spiritual battle that you may not be ready to face. Whether you are ready or not, it may be time to face them!

If you are a parent right now in a "What if..?" battle, I want to encourage you. I know it's hard to wonder about your child's life, health, and future. I know it is a draining process finding the answers to silence those nagging questions. But, you can do this! This season in life is extremely difficult as you might have to change some of your expectations or dreams for your child. But, you will adjust and find a way.

Don't let a question produce fear in your heart. You are stronger than a question and the answer to that question. Why? Because you're a mom!

"You should work harder."

"Of course my child can do that, I taught them."

I remember sitting around a table with a few other moms and some of their children. Over dinner, we sat and discussed life and parenting. A few of us marveled as we watched a little two year old with Down syndrome perfectly use a fork and spoon.

It was then that the mom plainly told us that she helped her child learn to do it.

"I work with him on it, and he can do it now. The therapists told me that they can see who works with their child and who doesn't. He can do a lot of things because I teach him."

My wonderment of the child using utensils soon turned to embarrassment and shame. My child sitting near me was shoveling food in with her hands and sometimes with a fork that I put in her mouth. She was three and could not use utensils. Though she didn't call me out specifically, I was left with the impression that I should be working harder with her.

Work harder?

What else could I do? At least one meal a day, I helped Jaycee hold a spoon using the hand-over-hand method. I purchased a variety of spoons looking for something that could help her with the wrist motion that she could not make. I found a deep toddler plate that could help her scoop food out easier and placed a mat under the plate to help stabilize it. She also worked on these skills and more in occupational therapy.

And still, I had to feed her because she couldn't do it herself. Around 3.5-4 years old, she finally learned how to move her wrist and grade her movements just right to feed herself. But on that day in the restaurant, we hadn't had that success yet.

There are times when as a mom you feel shame while trying to do your best for your child with special needs. Even if you work on something really hard, the skills don't come quickly or maybe never at all. It is frustrating. It is sad. And sometimes it can bring people to judgments, even people in your special needs community.

Here's the thing we should all remember, every child is different. This is true of typically developing children and children with disabilities. Not every child can excel in a spelling bee. Not everyone can understand calculus at age 16. Not everyone can hold a spoon at 2.

This is a lesson that I have learned over and over again in raising Jaycee, and I have taught it to families I work with in my speech therapy practice. Parents often voice that they have tried some techniques I suggested with little or no results. They are frustrated. They want their child to talk. They believe the solution is another technique (it could be) or that they/we need to work harder.

But sometimes, there isn't a magical fix. Sorry-don't want to be a downer. Sometimes, the child needs time. They need to keep practicing, developing brain and muscle memory. Their muscles may need to get stronger. They may need maturity. It may not be a question of working hard enough.

So if you are a tired momma out there in a situation I have described, I have some advice for you. Cut yourself some slack. I'm sorry if someone made a comment that made you self-conscious and made you feel you weren't doing enough for your child. No one is in your shoes, so try not to let it bother you. Take a moment to enjoy your child today. Celebrate the successes you have had, and try not to view those skills that haven't been mastered as personal failures.