Friday, September 3, 2010

It's a crazy world I live in when I consider having a rare disease to be "lucky."

My son is alive.  For this, I am grateful.  Yes, we live with a rare disease, but compared to so many families we are lucky.

{Although I have needed to remind myself of that many, many times in the past few weeks.} 

We ARE lucky. Some kids die of rare disease.

We live with one, which is a totally different animal altogether.

And never have I been more aware of that, than this past month as I have been working closely with parents of children diagnosed with rare diseases on the Vote4Hope Pepsi Refresh campaign for Children's Rare Disease Network.

I have been reading their blogs and posting their children's pictures...and crying. A whole lot of crying. Although to be completely honest, some of the crying has nothing to do with them.

It's about me. Us.

But, mostly me.

You see, we have another diagnosis lurking. One that is not so rare at all. And I find myself agonizing that my luck may have just run out.

No, this new diagnosis is not going to kill him. {Although, it very well may break my heart.}

The thing is, as crazy as this may sound, I feel like I am really losing my son this time.


Him, the person. 

Or the person I imagined he would be when all this "other" stuff was resolved.

The person who could speak AFTER the Trach was removed. The person who could eat AFTER his jaw was moved. The person who could hear AFTER the ear reconstruction was done.

The cute kid with the big personality, the dreamy eyes and the bouncy curls was going to do all those things and more.

And he was going to live happily ever AFTER.

One day, some day... AFTER all this bad stuff was done.

 ***record scratch***

Nice dream. I know, I know.

But now my rich fantasy life has been disturbed by reality once more. And somehow, this seems harder to grasp than the life threatening condition he has now.


Lately I have been wondering, 'Is it just me or do his eyes seem little less dreamy?'

Turns out, No, it's not just me. Nearly everyone agrees. 

My son is getting lost {somewhere in the Autism Spectrum.} 

This has me a.) worried b.) fearful c.) out of my element. KWIM? 

I am used to being the "rare disease mom", the "trach mom" and the mom who is a fierce advocate for her child.

I have no doubt I will learn how to be that other mom too. {It's what I do.} I just wish I didn't have to learn about this too. 

And, yes I know. 

I am still lucky.  My son is alive.


Janis Marie is a full-time mom, freelance writer and blogger. Highly regarded and respected for her ‘tell it like it is’ approach; she created and maintains a blog, Sneak Peek at Me to chronicle her son’s life and complex medical journey. 

Through her blog and affiliations, Janis works year-round to promote awareness and acceptance for those living with a rare disease diagnosis.

Want to help Vote 4 Hope? You can visit our website or join our Facebook page for more information.




  1. I've lived in fear of this very loss since my sister's oldest was diagnosed with an autism spectrum disorder. I feel your hope slipping away and I empathize. I'm sorry, Janis.

  2. Hi, Janis,
    It was lovely to meet you at BlogHer and I am glad to join you over here, too (my first Hopeful Parents post was August 10th.) I am however, very sorry to welcome you to the "Autism Mommies" tent with me. If you want to talk about it with anyone, have any questions, etc. I'd be happy to share all I know with you. Jacob is now 8 and doing very well. It's such a different path for every child I know on the spectrum. As the saying goes, "If you've seen one child on the autism spectrum... you've seen one child on the autism spectrum." But that said there are certain characteristics they do all share and a lot of strategies that work for many of us.
    I know a lot about having to constantly shift expectations and having the rug pulled out from under you just when you thought you were coming out of the woods (how's THAT for a mixed metaphor?) and I am so sorry that this is happening for you. When Jacob was diagnosed at 2 everyone kept saying "he's so bright, he's so motivated, and you're doing so much for him, I'm sure he'll progress fast & be mainstreamed by kindergarten." Well. fast forward to us at 3rd grade entering yet another Special Ed school, w/ Jacob soooooo clearly still on the spectrum.
    That said, I DO know kids who were profoundly more deeply on the spectrum than Jacob at 2, who now are merely a little "quirky" and are totally mainstreamed w/ just a bit of support. So I am saying it's just another journey for you and your son, and you can't really know where its going to take you and he is so young still. As you do your research about autism, don't linger on the sites full of agony and despair, stay with those of us full of joy and hope (visit Shannon at her blog "squidalicious" for starters), because our kids are lovely and full of light, you know? Many hugs.

  3. I'm sorry this is such a sifficult time for you. I hope you find the support you need and the tools and resources available to help you help your son. Shannon's blog ( is one of many great resources. There's also The Thinking Person's Guide to Autism, which is a collaborative site by Shannon, Jennifer Byde Myers, Emily Willingham, and Liz Ditz. That site is here: Also Kim Wombles has a directory of autism blogs of all varieties at
    There will be good days and bad days all along the journey. I know you'll roll with it just fine. There are lots of other autism parents out here with you. Sending hugs and support.

  4. "I wish I didn't have to learn about this to" Welcome to the club :) :)
    Truth is, most blogs are useless.... Even those that claim to be "more".... They don't tell you how to wade through the system, get services, where to get funding etc. They do a lot of "it's not vaccines" bashing or "it is vaccines" bashing or "if your kid has severe ASD he's MR b/c I say so" or "autism is glorious b/c I say so and don't you dare say otherwise", "behaviour is communication" not in my world... in my world autism may be the reason for something but it's never the excuse and autism doesn't make it acceptable.
    Truth is, it's no different than that rare disease. You need to take it one day at a time, find what services you require, get those services and move forward. Had I read those blogs first, had I believed what I find online I would have given up long ago... instead I have one who was non-verbal Mild PDD now Mild NLD at 10 and who will be "cured" or "independant" as an adult. And one that is severe, non-verbal headed to a slow learners class yet he is academically is ahead of most of those children in reading and spelling - he's going b/c they are going to work on the verbal apraxia and expressive language, psychometrist says get those up to speed... sky's the limit - Biklen's "Autism and the Myth of the Person Alone"... I don't expect the younger to ever not be autistic but this book is my end goal for him and at 8 IMO within reach.
    The only blog I recommend is Maddy's "Whitterer on autism"... she hasn't been blogging much lately, but there's some good stuff over the years on it.

  5. Oh, Janis, we live in different worlds and yet they are exactly the same. I thought Elijah's CP, microcephaly, cortical visual impairment, and GERD were enough for us. We got a PDD-NOS diagnosis a few months back, which puts our Eli on the spectrum too. So, while I cannot completely understand a lot of what you go through, I do get what it's like to already have a significant list and have another thing that breaks your heart added on top of it all. It kind of feels like it's all going to topple over. But, just like you, I feel lucky. Our kiddos have overcome so much. We get to kiss them every day. That doesn't change the fact, though, that it is hard sometimes (okay, a lot of times). HUGS to you, my friend.

  6. It isn't rare, it isn't fair, and I'm so, so sorry you have to go through this too. Welcome to the club you wish you could refuse membership of.

  7. Oh Janis. (Big sigh.) I had no idea as I haven't been around the forums or blog world as much. I'm sorry to hear you might join our club. He's still dreamy with the curls, but I know too well about lost expectations. Big hugs to you.

  8. My mantra in the early days was, "she's still my kid".
    It is a big scary label, autism, but in the end he's not going anywhere, really. One day at a time.
    I guess that is all easy for me to say since otherwise my kid is pretty dang healthy, and since 2.5 years of intense intervention HAS made a huge difference for her...
    I'm not trying to discount the sadness in losing your expectations that you were almost "there" but I want to hold out hope for you that "there" may be different and still good, even if it is hard.
    You will be in my prayers as you take the next steps.

  9. Hi Janis. I am one of those "rare mommies" you are posting on the pepsi site- and i know the challenge you are facing. I have worked my career in the field of autism, I have lived with people with autism, I have held the hand of parents as they have heard the diagnosis for the first time. And I too am Mommy to a "rare child" (or 3!) and one with a diagnosis of PDD-NOS on the autism spectrum. I will say to you, altho there are changes you see, this boy is still the boy you love- every day our children change, some days better, some days worse. We support each other but try to remember what many have said here - the journey may be different than we planned, it may be harder (like that's fair?? IKR!), but it may also be beautiful and good in its own right. HUGS to you!

  10. how beautifully you write
    The diagnosis willl not change your lovely child

  11. No matter what they say you are the same mom to the same might do things differently but you will do with them the same tenacity you do everything. Thinking of you as you navigate yet, another thing. Hugs.