Thursday, June 20, 2019

I'm not ready. A new rare disease, a new conference, a new family.

In the spring of 2003, my children were diagnosed with Fragile X Syndrome.

I jumped in learning everything I could, reading anything I could get my hands on, and speaking to literally any group or person that would listen.

In the fall of 2003, my mom and I attended a local conference in Cincinnati, Ohio on Fragile X.

By the spring of 2004, we were working on our first Walk for Fragile X – the first of too many to count fundraisers.

I joined the Listserv (pre-social media email group) and made friends who instantly became family.
In 2006 I went to my first conference in Atlanta, Georgia with my mom and sister – walking in I felt like I already knew most of the people there – it was now simply putting faces with the names.
By 2008 I was speaking at the International Conferences and bringing families from across the country together. I was determined that no one ever felt alone.

Over the years, I welcomed hundreds of people to conferences. I would go out of my way to look for them, meet them at the airport, in the lobby, or at the bar so they felt welcomed into this new world – especially for first timers. I carefully watched social media and made more introductions than I could ever recall yet each one meant everything to me – and more so to the people I introduced.

You would think that walking into my first CureJM conference would be a piece of cake. But it’s not. It took me a little bit to really understand why – there are so many factors.

1.       We are 3 weeks and 2 days into this diagnosis. While I’ve attended 1 webinar and ordered the Bible of the JDM world (Myositis and You), I haven’t had a chance to read a lot of it (thank you bathroom and kitchen renovations – and life. I’m still in the “I’m drowning” stage of this diagnosis.

2.       My anxiety is significantly more now than it has ever been, with each passing year it increases. It’s so fun being a Fragile X Carrier.

3.       I wasn’t expecting this. I mean, clearly, I knew something was wrong with Allison – I’d been searching forever trying to get an answer – I just thought it would be, well more simple and definitely not life-threatening.

4.       I haven’t had time. This is the biggest one.

As I’m laying here in my hotel bed with my bestie the next bed over sleeping, I’m still a frickin mess. In a few hours, I’m supposed to meet this new family, embrace and learn about this new journey we are on but no part of me feels ready. I haven’t had time.

I haven’t had time to wrap my head around it, to learn on my own, to understand even the basics of it.

I haven’t had time to meet people online, to get to know them and their journey, to feel welcome and part of their lives (trust me, they are welcoming! I’m just shy and it takes time for me to open up.) 

I haven't had time to meet the "Holly" of the CureJM world who would be watching for me to register so she could give me a hug and take me under her wing.

Time has not been on my side with this one.

I’m not walking in looking for familiar names or faces, I don’t know the names and stories (yet) of their children, I haven’t shared travel tips or contributed anything to this new community as I had with Fragile X before the first conference.

I feel as though I haven’t established or proven(?) myself yet, to show that not only do we belong here but we will make a difference here, too. (I know this sounds crazy, it is just how my brain works).

Most of all, I’m scared.

I’m scared of what I’ll learn. 

I’m scared I won’t learn enough. 

I’m scared of not fitting in with this new family. 

I’m scared I won’t contribute to their lives in the way I have to the lives of so many in the fragile x world. 

I’m scared I will fail my daughter. 

I’m scared of what her future might hold. 

I’m scared of what these drugs that are helping her will do to her body long term. 

I’m scared of what would happen if she didn’t have them. 

I’m scared of the new battles that are ahead with the school. 

I’m scared of not doing enough. 

I’m scared of test results I don’t understand. 

I’m scared of not using enough suntan lotion on her. 

I’m scared of every part of this new diagnosis.

Fragile X was overwhelming but it wasn’t life-threatening. While the medications Allison is on *should* protect her and help her heal, this will forever be a part of her and not watching for flares and not knowing everything we can and treating her, means we could lose her. And that terrifies me.

I’m older now. I’m tired now. I’m still a single mom raising Parker and Allison now. It felt easier to learn 16 years ago, it was easier to be more focused. I certainly was not this tired.

I DO see what is in front of me. I trust our doctor at the Mayo Clinic. He is amazing and we have trust and comfort in him. We KNOW what is going on so there is no valid reason I should fear losing her. This is not curable (yet) but it is treatable – and I need to focus on that. I know I’ll learn. I know that I’ve bought the book, attended a webinar, bought the sun-protective detergent and clothing, I know I am doing all I can. I do know there is HOPE.

It’s just right now, while I attempt to prepare myself to walk into these meetings tomorrow not knowing a soul … I don’t feel ready. I don’t feel like I’ve had time to wrap my head around it. But I also don’t feel as though I’m in a position to wait, even a year, for the next one.

What I know is I’m not alone. I have my very best friend by my side. I know she will absorb probably more information than I will as I’m emotionally not ok yet. I know that she is my strength and also my encouragement. She will push me  - not so far that I fall but just enough that I can stand on the edge and see the view. She will remind me of who I am. She will make sure I fly with these momentarily broken wings. Because this is what best friends do. I am so incredibly thankful for her.

I wish I had more time to get to know people and to learn but I also know from this a unique perspective having been on both sides now and I hope I can use that to make life a bit easier for the next person in my shoes.

I know this is where I need to be and what I need to do. I know that while it feels like I need more time, this is the right time.

To learn more about juvenile dermatomyositis please visit:

To donate to Allison's Angels, our fundraising team for Sunday's CureJM walk visit:


  1. Hugs to you from one of your FX family. I’m so glad you have your bestie with you. I wish I knew just the right words to encourage you. You have touched so many lives in the FX world over the years. Imagine us all holding you from afar sending love your way.

    1. Thank you so much, that truly means a lot to me!

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