5 Recommendations for "What To Do" After Receiving Your Child's Rare Diagnosis

Y'all, I can hardly believe it. Today marks ONE YEAR (and one day -- I blame COVID-19 and kids!) since that terrible day that changed our family's lives forever. One year since we learned our sweet Cami is missing a critical part of a chromosome and the life we thought we'd have with her changed in an instant. Several weeks later, her Angelman Syndrome diagnosis was confirmed, but it took months to recover from the shock.

In that time, my mental health struggled. When life instantly felt far beyond my control, I developed a desperate need to control everything. I began turning the lights on in the house and opening the blinds in the same order each morning -- not because it mattered, but because if I pulled out of the driveway and noticed a blind shut or the garage light still on... well, that was my first failure of the day.

"Keep it together!" was something I played on repeat to myself, yet could never master.

I put a smile on my face, but kept sunglasses on my face to mask the tears welling in my eyes.

I felt as if my family was being attacked by an invisible predator and became irrationally protective. At one point, I was convinced someone was entering my house only to move things a few inches to the left to see if I would notice. I knew this was highly unlikely, but I changed the locks in the house just in case.

I'll never forget the kind sales person (a complete stranger) who said to me in the middle of the store, "I think you need a hug!"

My personal needs fell so far down the totem pole of things that mattered that I wasn't sure if or how I was ever going to come back from this... would I ever feel like myself again?

Our family struggled. My husband was gone for work over the 4-months of time during which we completed Cami's testing and received her diagnosis. This meant we didn't experience this life changing thing together. We actually work great together in a crisis -- so there were certainly many moments of empathy and forgiveness. But, we clearly were processing this differently. Our stress was high, our communication was off, and we were both working to establish our new roles as special needs parents.

Big sis, only 3 1/2 at the time, also carried weight in this. Try as we might, we couldn't keep the stress for her. In hindsight, she was showing signs that she worried a lot. Most notably, she complained of a terrible belly ache for months. We visited the doctor, did an ultrasound, tried medicine -- nothing helped. We finally determined it was simply caused by anxiety she couldn't express in words.

Friends didn't know what to say, family didn't know how to help from a far, work, life... all of it struggled.

The challenges of this life with a special needs child will never go away.

The worry and stress will never go away.

We will forever have to fight harder for Cami, her sister, our marriage, and for ourselves.

But, I'm happy to report that one year later, the weight... the gravity... and the deep heartbreak that once consumed our lives has lifted.

So, for those of you trying to find the strength to pull yourself up from the news of your child's diagnosis... this is my advice to you:

Grieve

Take the time to grieve this.

Know that it may take a long time before you find a new normal, and that's OK.

Know that there's going to be a lot of guilt and emotions along the way, and that's OK. I remember often feeling guilty because "it could be so much worse," because I couldn't stop talking about Angelman Syndrome, because I could snap easily under the stress at people who deserved a better side of me... this is all part of it.

Know that there is no "typical" response to this. Your experience is your experience.

Know that You're Not Alone

This phase of the journey can feel terribly isolating. Despite the fact that 1 in 10 people in the United States have rare diseases, you may not personally know anyone facing the same diagnosis. For me, I began "connecting" with others by simply reading about the experience of other special needs families. I didn't have to interact with anyone personally, so it felt "safer," but it helped validate everything I was experiencing.

Here are a few of the resources I'd recommend:

Welcome to Holland by Emily Perl Kinglsey

To The Mom Who Just Received her Child's Diagnosis: You Will be OK by Sarah Lango

What the Doctor Doesn't Tell you About Angelman Syndrome by Lucy Hasler

God Didn't Choose Me to be a Special Needs Parent by Heather McCaine

Float a 2019 short film available on Disney+

Join a Community

I can't explain how grateful I am that I became a special needs parent in a day and age when people are more connected than ever. My Angelman Syndrome Facebook groups are my lifeline. As parents, we know our babies better than anyone but there is no "roadmap" for how to navigate this journey. So, we turn to each other to bounce ideas off one another, learn from each others' experiences, find inspiration in the inchstone celebrations, and be warned for what may be to come. I'd highly recommend finding an online group to help you through this!

Heads Up: It may be hard at first! I distinctly remember resenting every Friend Request that rolled in after joining the AS community thinking, I don't want to be friends with any of these people! I don't want to be dealing with any of this! But, I am so thankful for these people now!

Write Your Self-Fulfilling Prophecy

A self-fulfilling prophecy refers to the phenomenon that predicting something will happen, and then this thing happens simply because one believes it will and their behaviors align to fulfill those beliefs.

Writing your own story is a powerful way to find purpose in your child's diagnosis and to create your own vision. It may change over time. It may be a short essay or a lifelong novel. But, it's your story, your predictions, and your expectations for how you plan for your child to thrive despite his or her circumstances and how you hope this experience will make a difference in the world.

For me:

Find a Way to Take Care of YOURSELF

In the months following Cami's diagnosis, I resented the hype over "self-care." Like, truly hated the idea and anyone who bought into it because who in hell has time for this?! But, then I read this article about how self-care is often a very unbeautiful thing and something clicked... no amount of manicures, wine nights, or bubble baths were going to make a real and lasting impact. For me, here's what actually helped:

I changed my diet. At first, this started as a way of learning about the Keto diet that we would eventually have to introduce to Cami for seizure control. But, as soon as I moved to a low carb low sugar diet, I experienced major improvements in the anxiety I was struggling with.

I got some space. A few months after Cami's diagnosis, I decided to take Cami on a weekend trip to my hometown. I didn't realize how desperately I needed to be surrounded by family and friends and to get a little distance from doctors appointments, therapy sessions, and the day-to-day grind.

I became proactive. So much of caring for a special needs child is reactive. They get a diagnosis, you deal with it. They start having seizures, you deal with it. Therapists teach you home exercises, you do them. But, being constantly reactive is stressful. I needed to do something on my own terms to make a difference in Cami's future. For me, it was this blog -- my way of raising awareness, helping to find treatments, connecting with other AS and special needs families, helping others get to know Cami through my eyes and to better understand our experience, and to build a kinder world and brighter future for Cami and kids like her.

We invested in quality family time. As a family, we needed time to reconnect and find our new "normal." So, we began carving out more time and budget for quality family time -- we explored new areas of town, went to the zoo, visited waterfalls, took ski trips, found new festivals, and took weekend trips to the mountains.

It's not always easy, but it's critical to find yourself again through it all.