A Day I’ll Never Forget

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It’s a day I will never forget, and it seems just like yesterday I got that call.

The Day I’ll Never Forget

My day started out like it normally did at 6:30 am, hitting the snooze a handful of times before waking up. I silently walked into the kitchen to make coffee while the boys slept, made breakfast, threw on some gym clothes, and then woke the boys up to get them ready.

A seemingly uneventful morning.

Put the kids in the car and headed to base where our oldest went to VPK, Voluntary Pre-K, from 8:30 am to noon. Usually I went home right after to work out but today I took up an invite to my friend’s house. Which was a decision I am glad I made.

As we were sitting on her black leather couch, sipping coffee, and chatting away while Jaxson played–I get a phone call. It was from an Alabama number so I knew it was our Genetics team.

“We got his genetic test results back…. we have an answer” she said. I was ecstatic, relieved, we finally had an answer. She then goes to say that the testing revealed that he has what they call Dyrk1a Syndrome–wait what? She continued to say that it was an extremely rare diagnosis, and that they weren’t expecting it to be that at all.

My relief and joy started to fade, and grief began to creep in.

I quickly grabbed a note pad and pen from my friend as she started to cite the features and symptoms of Dyrk1a Syndrome. The more I heard the more I feared.

It got to the point that grief completely took over. One might wonder why was I so sad about this diagnosis? That I finally got answers! Well, who wishes their child to have a disability? It meant that our child would have many challenges thrown his way as he got older. We were hoping his delays were something he would eventually grow out of as he aged.

We, as parents, want our children to succeed in the world!

A diagnosis can't predict the extraordinary love you will have for your child Click To Tweet

I made a follow-up appointment with them to discuss what they know, and silently hung up the phone. I am so happy that I took up coffee with my friend that day, that wasn’t a moment to be alone for.

I cried, and I cried.

Went to pick up our oldest from school and made my way back home, where I continued to cry.

I was finally able to get a hold of my husband that evening, he was away for Military training at the time. We discussed the results and vowed we would do everything in our power to help our son overcome these obstacles.

To live the best life he could live because his diagnosis doesn’t define him, he can and he will.

Since that day, I’ve met a wonderful new family through our Dyrk1a Support group. They are all welcoming and it is nice to know that there is someone out there who gets it… who truly understands it. 

Advice For You

I want to give you some advice

It is okay to have mixed feelings, and most importantly it is okay to seek support

You are NOT alone.

6 thoughts on “A Day I’ll Never Forget”

  1. You are such a strong mom!! I remember when you told us about it. In a way, a lot of us moms in the group were worried about you and how much you had gone through during the first few months after birth with feeding etc. A diagnosis initially felt like an answer. But I know now you worry about the future!!! Hugs my friend, you are the best advocate Jaxson can have by his side.

  2. As the sister of a genetic counselor, I am sure that this post has and will help other moms learning about their child’s rare diagnosis. What important words to share, especially letting other moms know that they aren’t alone in this. Wishing you continued support on this journey.

    1. Hello Sonja, thank you for your kind words! Scary Mommy recently shared it on their site so I hope it reaches all the moms and dads out there who need a little help!


  3. I could feel your pain and shed a few tears, as I am in awe of you sharing so others can learn, and see the strength that it takes to go through a diagnosis of a rare disease! My heart and prayers are with you and your family!

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