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.

If Your Child Gets a Bi-pap

If you are a parent, you have probably read If You Give a Mouse a Cookie or another book from the series. Today, I present to you:

 If Your Child Gets a Bi-pap

If your child gets a bi-pap machine to treat their sleep apnea, you'll have to plug it in to an electrical outlet.

Once it's plugged in, you'll realize the cord may be a tripping hazard, so you'll have to move your child's bed to a safer location.

You can't set the machine on the floor, so you discover you will have to buy a little end table and tuck it in the drawer. This will keep the machine from falling down, but it will also add something else into the room.

Before you turn it on, you'll have to fill it with distilled water. Ever so often you will run out of distilled water, and you'll panic. Then you decide to use tap water just this once or boil some water.

The first night you put the bi-pap mask on your child and turn the machine on, it will be an utter failure. Your child will take the mask off. You will put it back on. Your child will take the mask off again. You will put it back on while sighing or praying or inwardly screaming. And so it will continue as long as you persist. You will get really tired.

After several days of using the machine, you can think of nothing else but of sleep and having peace at night. Eventually, it will happen.

Each week, you'll have to disassemble the hose, mask, filters, and water chamber. You'll fill the sink up with hot soapy water and wash these parts. You'll replace the filters as needed. Your dish drain will be used to dry the parts, and it will feel strange that the bi-pap is invading your kitchen space.

After a few months, you'll realize you need to replace some of the bi-pap parts. You'll call your medical supplier and wait on hold a ridiculous amount of time. You order the parts and wait for them to arrive.

In a few days, a large box comes. You'll open it up to find filters, cushions, head gear, a mask, a water chamber, and miscellaneous items. You'll be excited to switch the parts out but notice there is a surplus to be used later. You need somewhere to store these items. You'll go to the store and pick out a plastic storage cart that seems large enough. (Eventually, it won't be, but you'll keep cramming things inside of it.)

One day, you might notice your child's face getting red from the mask. You ask the doctor about it and are told to purchase a barrier cream. You try to rub the thick lotion on your child's face and then try to scrub it off your hands. You slide the mask on your child and notice you completely misjudged where the cream needed to go. You take the mask off and try again. This time you get it right.

When your child is older, she will want to spend the night somewhere else (probably grandma's house). You'll pack up all the bi-pap supplies in a travel bag. You'll have to train the new person on what to do. Few people are up for this challenge, and you are grateful for those that are.

If your child gets a bi-pap, be ready for several changes. Have patience for the process. Take courage knowing that everything you are doing will help your child's health. Don't be afraid. You will know what to do if your child gets a bi-pap.

By: The mother of a child bi-pap user for 9 years and counting

Why I Needed Prayer When I Didn't Want It

Last week, I had this post on the Key Ministry website. It's an honest look at how I can feel spiritually after weeks of care taking. Start reading it here if you missed it: 

A few months ago, I found myself in the chaos that occurs during an illness with my medically complex daughter. For weeks, my daughter’s breathing struggled. At home, there were increased albuterol treatments day and night and nocturnal oxygen use. Her oxygen saturation monitor alarmed frequently several nights jarring my husband and I awake causing us to spring into action. 

There were two trips to the emergency room that led to two hospital admissions for a total of 6 nights. After two rounds of steroids, two different antibiotics, and numerous breathing treatments, my daughter was finally back to her normal self. In all, five weeks were devoted to treating this illness that ended in pneumonia.

During all of this, our routine flipped upside down. Thanksgiving was spent in a hospital, not with family and friends. My work schedule was revised and revised again. Each day presented challenges. 

Click here to continue reading. 

Leaving Some Things Behind

A new year has just kicked off. There are many days ahead of me filled with promise, hope, and life. When looking forward into the new year, I can't help but reflect on the year I just lived through though.

There were many happy days in 2018 and some that weren't so great. Recently at church, the pastor asked us what we would like to forget and leave behind from 2018. I could easily give the guy a list, which mostly involves illnesses.

Let's start at the beginning of the year because it was a flurry of chaos. On January 2, 2018, I was in the Intensive Care Unit (ICU) with Jaycee who was battling a respiratory illness and sepsis. It was ugly and rough. When she went home, she wasn't well at all as she needed oxygen off and on with near constant monitoring. All this happened while my husband was a few states away working.

Before she fully recovered from that illness, the horrible Influenza A virus inflicted itself on both of my children causing Jaycee to go right back in the hospital. All of January and most of February was spent battling different respiratory problems. By the time Jaycee felt well enough to go back to school at the end of February, I was completely drained from the stress of being her sole caregiver.

Three more times in 2018, Jaycee's lungs just couldn't fight through issues at home and required hospital stays. April's hospital stay was relatively short. Two hospital stays in the fall were only a few days each, but the majority of her illness was intensely treated at home. All of November and the first week of December was spent monitoring and medicating Jaycee. The illnesses that go on for weeks and weeks require so much of my energy and focus. That's a fact and not a complaint. But, many times people think illness that happens outside the hospital is no big deal. I can assure you that there are many hectic times at home during an illness.

I would like to forget those weeks and months from 2018 for sure. They were scary, challenging, and mentally draining. More importantly, they taint my thoughts about the future.

When I start a new year, I try to project what may happen. Part of this is my type A personality that seeks to find routine in my life that is often not routine. I look for patterns in Jaycee's health and try to predict problem months in the future. Therefore, I look to the past to see what may happen in the future. That's exactly what I need to leave behind going into 2019.

I have come to accept and wait for illnesses and hospital stays. They have happened every year in almost 13 years of Jaycee's life. So of course, I anticipate them. In that lies the problem.

This year I am trying to leave the baggage of that behind. I'm trying to go in to 2019 with a clean slate. I'm trying not to anticipate some problem months for my daughter based upon her past. I'm trying not to predict illnesses and hospital stays. I'm starting, instead, to hope for a future of health and not be in dread of something bad that may occur.

As I write this, we are only a few days in, and I'm already struggling to stay completely positive. I have had a few fleeting thoughts in my head: Last year at this time, Jaycee was in the hospital. She was so sick, and it was hard. That thought is usually followed with this thought: I hope she doesn't get sick like that again or get Influenza again. And these are the thought patterns I am trying to correct by telling myself this: Today, Jaycee is healthy. God, let her health continue. 

I'm a work in progress. I'm trying to let the past with its fears and stressors go. I'm trying to see the future for the hope and optimism that may occur. After all that my daughter's been through, I haven't given much room for hope to grow based on past experiences. This year, I want to make a place for it to flourish by leaving some things in the past where they belong.