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When My Sense of Relief Faded Into Grief After My Child's Rare Diagnosis

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Our journey with Jaxson has been anything but easy.

My firstborn son’s journey was simple – an easy pregnancy with zero pregnancy-related symptoms and no complications, thankfully hitting every milestone. Our youngest son’s journey started similar to his big brother’s, but at 19 weeks, things started to shift.

When I walked out of the ultrasound tech’s office, I knew things would be completely different. We were told to return back the following week for a “routine” check because they were not able to see his kidney’s and umbilical cord in its entirety.

OK, this seemed like something that could happen. It seemed plausible. I mean, you hear all the time about how some doctors guess the wrong gender. My sister-in-law even thought she was having a boy her entire pregnancy. So, not being able to see his kidneys and umbilical cord seemed like no big deal, until I got a call from my midwife.

She explained that we would be followed by a perinatal specialist off post along with receiving care at the Naval Hospital. Apparently, he had been diagnosed with a two-vessel cord and with that came complications.

Week after week, and month after month I had non-stress tests, ultrasounds to measure his blood and oxygen flow, and amniotic fluid levels.

We were induced at 39 weeks because he was measuring four weeks behind; they estimated that he would be may be five pounds. They explained why that they thought he would thrive best outside of the womb. If only it was that simple.

Our first few months were even more difficult; he was diagnosed with the inability to suck and swallow, failure to thrive, he had reflux and GERD, microcephaly, and he was even misdiagnosed with laryngomalacia.

That’s what happens with our children who have rare genetic disorders: a lot of misdiagnoses.

Thankfully our pediatrician was awesome and was able to think outside of the box. He put in an order for genetic testing because of everything that was going on with our little man. And in April 2018, we received our diagnosis of Dyrk1a syndrome.

I can remember what I was doing that day like it was yesterday. I had taken our eldest to VPK on the Naval Air Station, and decided to have a cup of coffee with my friend that day.

As we were enjoying ourselves and our coffee, I received a call from the team of genetics in Birmingham, Alabama. “We have an answer,” she said. I honestly didn’t think we would receive an answer because the micro array came back negative.

I was so relieved; we finally had an answer as to why our little guy was so late at meeting milestones, why he still hadn’t said his first word, and why we had such a difficult first year of life. The doctor explained that his symptoms were due to Dyrk1a syndrome.

“This syndrome wasn’t even on our radar, we are shocked.”

I had no idea what Dyrk1a syndrome was and what it meant for
us; all I could think was how happy I was that we finally had an answer!

She asked if I had a pen and paper ready so she could recite the symptoms and features of Dyrk1a syndrome—all of which were found on Google. As I was listening to what she was telling me, all of the dots started to connect.

Every little feature she gave me, our little guy had. Everything started to make sense. But then she started to tell me that children who have Dyrk1a syndrome have intellectual disabilities, developmental disabilities, skeletal abnormalities, epilepsy and seizures as well.

My relief started to fade into grief. I started to grieve for my baby.

Unless you have a child with a disability, you might not understand why I grieved.

I grieved for the child I thought he would be.

I grieved for the future and what it meant for him.

I grieved for the pain and fear he felt experiencing his first

I grieved for a while.

I grieved every time I had to explain to family, to friends, to doctors, to strangers what Dyrk1a syndrome was and how it affects him.

As we grow closer to his third birthday, I’ve found myself grieving less. Don’t get me wrong, I still worry about him and his future and what will happen to him when we’re gone. It scares me to death.

But we’ve found a new family, our Dyrk1a syndrome family. We’ve found people who understand our frustrations, our tears and our fears. They’ve truly helped me cope. My one advice to parents receiving a rare disease diagnosis is:

It is OK to grieve. It’s OK to cry. It’s OK to scream.

It is a perfectly normal reaction and you don’t let anyone tell you otherwise.

Once you’re ready, reach out to other families with that rare disease.

They will be the family you didn’t know you needed.

Originally published: November 18, 2019
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