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When I Was Given a List of 'Nevers' After My Child's Phelan-McDermid Syndrome Diagnosis

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Three years ago today the trajectory of our lives changed forever.

We had been waiting for weeks to hear back from the genetics team at Children’s Dallas Hospital, so I called them that morning looking for an update. When my phone rang with a return call a few hours later I was not at all prepared.

“Our team was just in a meeting going over your results…” I barely comprehended the next things the genetic counselor was saying because her first words told me something was wrong. We had just pulled in the driveway and I frantically stumbled inside searching for pen and paper to write down all these foreign terms…genetic abnormality…unbalanced translocation…Phelan-McDermid syndrome (PMS)…severe intellectual disability.

Hands shaking, I scribbled down a list of notes and “nevers,” — things they thought Sloane would “never” do. And then I had to walk out of our room and tell Chris. We were in complete shock, devastated by the level of despair that had been dropped on us. We sobbed and grieved, and in that time we began to have lots of questions. What does this mean? What do our lives look like now? What can kids with PMS do? What can they not do?

So three years later, here’s what I wish the Jenn of today could have told me then.

I know that this is hard, that you may not have seen this coming, or maybe you did deep down. I know it feels big and scary… like the end of something. And it is. This moment may feel like the worst moment of your life. I wish I could be there to hug you and let you sob onto my shoulder, that I could cry with you. But more than that, I wish that I could tell you that it is going to be OK. Even though it feels like you will never be happy again, there is happiness to come, and more than that, there is hope.

I wish I was there to look you in the eyes and tell you that everything the geneticists said about the many things Sloane will never do is complete crap. Shame on them. How dare they put limitations on her. I can tell you that three years later she has made more progress than they would have believed possible in her lifetime. She is resilient. She tries so hard. She is so happy. And she is the same today as she was yesterday.

Never let anyone put limitations on her.

I wish I could hold your hand and tell you how an amazing new community is waiting to welcome you. They will understand your struggles, celebrate your accomplishments and be a wonderful source of wisdom and comfort. They are the ones who actually know what this diagnosis means. You will find your community, your home with the other PMS families, and we will walk this with you. We will laugh and cry and live this life together, even though we are all apart.

I wish I could tell you how your circle will grow to include families from all over the world. Families who will be your dear friends even though you will be separated by thousands of miles.

I wish I could tell you today that right now, there are amazing doctors, scientists and researchers working so hard to find treatments for our loved ones. That they are trying every day to help make the lives of people with PMS better.

I wish I could tell you all the good ways this will change your life, but right now you won’t want to hear that. Today is hard, and sad. But this you need to hear…even though your life feels over today, nothing has changed for Sloane. Who she is does not depend on a label, Sloane is exactly the same girl today that she was yesterday.

More than anything, I want you to take heart, you are not in this alone. Right now it feels like the end of the world, and you don’t have to be OK today. But when you’re ready, your new community is here for you and waiting with open arms.

And there is hope and life on the other side of this grief.

sloane, wearing pink glasses, sitting on top of her father's head

Originally published: October 28, 2020
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