Tuesday, August 22, 2017

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? 

1 comment:

  1. You are so right, the diagnosis isn't the main event. The child is! Thank you for sharing your journey.


submit to reddit