Ep. 36: Rare Disease Day 2021, The Parents Perspective

Like many children born with rare disorders, Kimball was misdiagnosed with a super common chromosomal abnormality with similar features—Down syndrome.

He was about 20 weeks gestation and the ultrasound tech had just found an absent nasal bridge and short limbs. Because of Down syndrome’s prevalence, I don’t blame them one bit for going there. The more parents of rare I talk to, the more I know our situation was far from unique.

The misdiagnosis was short-lived—a blood test targeting the most common disorders came back negative a week later.

But it was one of the longest weeks of my life.

In that time, I grieved. I told family members and friends that our unborn son had Down syndrome. I had some heart-to-heart talks with two older moms both with sons with Down syndrome which I’ll never forget. Their love for their children and their extra chromosome were a welcome contrast to the deep pain I felt at the news and I started to feel the smallest spark of excitement.

I even joined a robust Facebook group for parents of children with Down syndrome.

I felt lighter as I scrolled through adorable photos of smiling babies and children and cringed at posts about their open-heart surgeries. I jumped in feet first into this community with so many others. The support meant so much, even in those few days.

When the blood test came back negative, the doctor told me this just meant that whatever our precious Kimball had was likely something quite rare.

Again, the rug was pulled beneath me.

I had just started getting my footing with the diagnosis of Down syndrome, and I reeled at the news that the thing I had worked so hard to accept was false.

I will say this: His pregnancy was one heck of a rollercoaster of emotions.

Through a series of ultrasounds and various specialists, we had a tentative new diagnosis: chondrodysplasia punctata x-linked, type 1 (CDPX1). The name was gibberish and did nothing to give me insight into what our—and our son’s—future held.

With only 125 other known cases worldwide, this new diagnosis was a world away from Down syndrome with a whopping 5 million people affected globally.

Since then, I’ve come to terms with his extremely rare syndrome and slowly found community. Even then, every time I see a precious human with Down syndrome—typically on social media—I feel a twinge of resentment. The community I had for a short seven days meant so much to me and the contrast is stark.

Although the people in the world who have heard the name of my son’s diagnosis—let alone know what it means—is few and far between, there is another community I hold dear.

It’s a group of people who understand my isolation and frustration with lack of knowledge and research.

A group about 400 million strong.

And that group is the rare disease community.

Although our children don’t share the same syndrome or list of medical complications, I still find comradery in the distinction of “rare”.

It’s certainly still a lonely road at times, but I’ve truly grown to love our smorgasbord-style family of rare.

On the last day of February each year, we celebrate Rare Disease Day with the rest of the world. And I love this day! It’s a chance to recognize our rare warriors and all they go through. We honor their precious lives, with dual respect for their diagnoses and their individuality.

In this collaborative Rare Disease Day episode, I highlight not one, but twelve children born with rare conditions.

These twelve moms tell us a bit about their child’s diagnosis, what it was like to find out about it, and what they want the world to know about their child.

And its gold.

In 2-4 minute recordings, they capture a variety of perspectives and unique situations, but they all have one thing in common; they love their children profoundly.

This episode is a tribute to all children with rare diseases everywhere, and their parents who love them more than life.