What We Learned After Our Daughter’s Diagnosis
Spondyloepiphyseal Dysplasia Congenita.
Before Ito-chan was born, we had never heard of this condition.
When we first learned the name, we had so many questions.
What kind of condition is it?
How will she grow?
Will she be able to walk?
What will her everyday life be like?
We didn’t know what to expect.
When we searched online, we found long lists of possible symptoms and complications.
Sometimes, the more we learned, the more anxious we became.
But after living and growing together with Ito-chan, there is something we have come to believe:
Learning about a condition is not the same as deciding a child’s future.
In this article, we want to explain SEDC as simply as possible, focusing on the things we ourselves wanted to understand when we first learned about Ito-chan’s condition.
This article combines general medical information with our family’s experience. Symptoms and their severity can vary greatly from person to person. Please consult your medical team regarding individual diagnosis and treatment.
What is SEDC?
Spondyloepiphyseal Dysplasia Congenita, or SEDC, is a skeletal disorder that affects the development of bones and cartilage.
The name itself gives us some clues:
“Spondylo” refers to the spine.
“Epiphyseal” refers to the ends of long bones.
“Dysplasia” refers to differences in development or formation.
Because of this, SEDC can affect the growth of the spine and long bones and may result in short stature and differences in body proportions.
What causes SEDC?
Typical SEDC is associated with disease-causing changes in a gene called COL2A1.
COL2A1 provides instructions for making type II collagen.
When people hear the word “collagen,” they may immediately think about skin.
But type II collagen plays an important role in cartilage and other tissues throughout the body.
Changes in COL2A1 can therefore affect the development of bones, cartilage, and other tissues.
This was when we began to understand something important:
SEDC is not only about bones.
What are the possible features?
SEDC can affect people in different ways.
Possible features may include:
• short stature and differences in body proportions
• problems involving the spine or neck
• hip and other joint problems
• eye problems such as myopia
• hearing problems
• cleft palate
• clubfoot
• respiratory complications
Not every person with SEDC will experience all of these.
That point is extremely important.
A list of possible symptoms is not a prediction of one child’s future.
Even among people with the same diagnosis, the features and their severity can vary.
Why is the neck so important?
One of the things we learned was the importance of the cervical spine—the bones in the neck.
Some people with SEDC can have instability in this area, which may affect the spinal cord.
Because of this, medical evaluation and appropriate imaging may be important depending on the individual child.
It is something that may not be obvious simply by looking at a child.
That made us realize how important it is to understand the condition while continuing to follow the advice of specialists.
We will talk more about the cervical spine in the next article.
Why can a bone condition affect the eyes and ears?
This surprised us at first, too.
Type II collagen is not only important in cartilage. It is also found in other parts of the body, including structures within the eye.
This helps explain why some people with COL2A1-related disorders may experience eye problems such as myopia, as well as hearing problems.
The words “skeletal disorder” alone do not tell the whole story.
Depending on the individual child, care may involve several medical specialties rather than orthopedics alone.
Is SEDC inherited?
SEDC generally follows an autosomal dominant inheritance pattern.
However, having a genetic condition does not necessarily mean that it was inherited from a parent.
In some children, the genetic change occurs for the first time in that child, rather than being inherited from either parent.
Questions about inheritance and future pregnancies depend on each family’s specific genetic findings, so they are best discussed with a genetics specialist or genetic counselor.
We will cover this topic in more detail in another article.
What frightened us most
Looking back, perhaps what frightened us most was not the name of the condition itself.
It was not knowing what our daughter’s future would look like.
Every search seemed to bring another possibility:
“This could happen.”
“This complication is possible.”
Knowing what to watch for is important.
But today, we also believe something else.
We cannot know the future until we get there.
That does not mean our worries have disappeared.
We attend the necessary appointments.
We learn what we need to watch for.
We continue learning about her condition.
But at the same time,
we don’t want our fear of things that have not happened yet to stop us from seeing the Ito-chan who is right in front of us today.
A diagnosis cannot tell us who a child will become
Living with Ito-chan, we see new things every day.
Something she couldn’t do yesterday becomes possible today.
She laughs at unexpected things.
New worries appear, and so do new joys.
In many ways, perhaps that is simply what raising a child is.
A medical description cannot tell us how a child will smile.
It cannot tell us what she will love.
And it cannot tell us what kind of life she will create.
So this is how we want to move forward:
Learn about the condition.
Prepare for what needs attention.
But never let a diagnosis decide a child’s future.
We hope these articles can help families walking a similar path.
And for those learning about SEDC for the first time, we hope they offer a small window into a world they may not have known before.
Next Article
02 | Why Is the Neck So Important in SEDC?
— Understanding the Cervical Spine
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