“Dear CMT, You Are BAD”

A few weeks ago, we received some of the pictures that were taken at our photo shoot for People. Sincere thanks to the photographer, Charles Gullung, and People for this gift. The photos are colorful, bright and happy. It’s just the way I want to remember things.

This slideshow requires JavaScript.

Now that we’ve been in People (never our goal, but life is unpredictable…), there’s just one more publication that I’d like to make: the green journal.

IMG_2744

Neurology is a weekly publication from the American Academy of Neurology. For neurologists, it’s kind of a big deal to get published there.

I don’t do research, so the chances of me publishing in Neurology are zero. I think I have a decent chance of getting into Neurology, though – as part of a case study.

Our family is interesting, medically-speaking. I’ve known this for a while, and it’s actually awful. It means that you have something bad and no one can figure it out. Julianna has one of the worst cases of CMT – ever. Steve’s is practically asymptomatic. To quote my high school self, quoi is the deal?

We may be getting close to an answer. We have gone through the latest round of genetic testing, and there’s a candidate gene. It’s something that is known to cause problems with peripheral nerve cells, but it hasn’t yet been identified as a gene whose mutation leads to CMT. If it pans out, Julianna could be the first case.

Why is this important? It will lead to a better understanding of what causes peripheral neuropathy, and it may pave the way for treatment. It could help other families who are watching their child decline and searching desperately for answers. Maybe – just maybe – it will identify something that we can try soon.

These types of medical advances require an enormous amount of resources. Our genes have been under analysis for over three years. It’s a collaborative effort, and research labs all around the world have contributed. Recently, I learned that our family’s gene analysis identified eight million “variances” (abnormalities) – which is actually a normal amount. We all have gene variances, and almost all of them never amount to anything. Only one (maybe two) is responsible for causing J’s awful disease. One out of eight million — this is just one of the things that the researchers have to sort out.

So far, we have raised over $14,000 for CMTA. This is a national organization that funds research for CMT, and they are the best way we can fight this awful disease. Our goal is to raise $60,000, but in truth, I would like to raise more – a ton more.

I’ve never tried to raise money for anything before, and I’m not a great fundraiser because I hate asking for money. I hate CMT more though — so I’m asking now. As usual, Julianna helped me put things into perspective.

M: Julianna, what should I do? I want to raise a lot of money for CMT, but I hate asking people for money.

J: But why? It’s for CMT…

M: I know. But I feel bad. What if they don’t have much money?

J: — spoken as if she’s stating the obvious — Mom, if people don’t have much money, they can give just a penny.

Julianna and Alex both know that a lot of money is needed to find a treatment for CMT. I asked them what they would like to say, and they came up with this:

IMG_2743

CMTA’s vision is “a world without CMT.” To be honest, I try not to think of this too much. I got glimpses of this sort of world before the diagnosis, when I thought we were dealing with just a bit of motor delay that physical therapy and determination could defeat. Picturing our Julianna running, laughing out loud (CMT makes her laugh silent) and dancing with her whole body (not just her head) makes me sad, because the chasm between this dream and our reality is too great right now.

Julianna isn’t afraid to dream, and she isn’t sad. She imagines a world without CMT. All the time.

Last night, during a rare quiet moment:

M: Julianna, what’s in that big brain of yours right now?

J: I’m walking. On the sidewalk.

M: Oh?

J: I’m walking, and nothing is bothering me – except for Alex. I’m wearing my colorful skirt and colorful shirt.

M: Where are you going?

J: The playground, of course!

Moon-132-2

June 2015. J is in her “colorful skirt and colorful shirt.” Alex is not bothering her. Photo by Aubrie LeGault, Capturing Grace Photography.

 

Later that evening, close to bedtime:

M: What now?

J: I’m walking…

M: And?

J: I get out of bed and go to the kitchen for a snack.

M: What do you eat?

J: Ketchup – and milk.

M: Are you sure?

J: Yes. And then I get out some toys and play.

M: All by yourself in the middle of the night? Aren’t you lonely?

J: No, I’m happy.

IMG_1052

I sometimes wonder how mischievous J would be without CMT. The ketchup and milk story gives me my answer. This was taken when J was three and was still able to eat. We left her alone with a smoothie and came back to this.

I am grateful for Julianna’s huge imagination but I wish that she didn’t need it to walk.

If you are able, please help Julianna fight CMT by giving to CMTA — for Julianna, for a world without CMT. 

http://www.cmtausa.org/donate/julianna-snow/

We appreciate each and every donation!! And, if you know how to fundraise and have ideas on how to help, please contact me.

 

 

 

 

 

30 thoughts on ““Dear CMT, You Are BAD”

  1. Dear Michelle,
    By sharing your family’s story, you are doing something unique for the CMT community. You will raise awareness in a way that no one else can. It will inspire donations and volunteering from many who didn’t know CMT could be so severe. I have lived this with MS. Thankfully, mine is not severe but I am able to illuminatefor others what MS means by talking about it and sharing my struggles and victories. That is huge. Your beautiful daughter is going to light the way for so many people to learn about CMT, about disability and about compassionate decision-making. Thank you for sharing Julianna, Alex, Steve and yourself. You are and always will be surrounded by much love.

    Yours,
    Marla Eglowstein, MD

    Like

  2. And make the link more obvious.. make that whole second-to- last sentence the link and label it.

    For those who cannot find the link, tap or click on CMTA in this sentence in the blog entry:

    If you are able, please help Julianna fight CMT by giving to CMTA — for Julianna, for a world without CMT.

    I am a bad fundraiser, too, so I understand.

    I will return there and donate..

    Like

  3. We will be making a donation in honor of Julianna and all of those suffering with this terrible disease. Thank you so much for sharing. J inspires me more than I can say.

    Like

  4. Oh, it is my pleasure to be able to contribute in some small way. You have a beautiful family and both of your children have been blessed with two wonderful parents. I have followed the blog since reading your story on CNN and I love reading all the fantastical things Julianna dreams up. She takes us all on a great adventure!

    Like

  5. loveit whenever the roles reverse & Julianna starts parenting in the ‘Mom! That’s no issue – [do this], simple! Duh.’ kind of way.

    Like she did for the pulse ox machine (‘it’s bothering EVERYONE, not -you-‘) & now (‘Mom, they can give just a penny ..’)

    & in view of that I thought okay fine, maybe I can afford to give a penny! (Or err, okay, a few bucks. Still intending to keep some money for the book .. among other things) – but here’s the thing- I can’t seem to donate! 😦 They said my credit card was unable to make a donation.

    Is that because CMTA only accepts American cards? Bcos using my card on Paypal for other merchants is fine ..

    & on that note I do hope that the book will be available to international readers as well! (& hopefully shipping isn’t too pricey haha.)

    Like

    • Thanks so much for wanting to contribute – there have been a few other international donations & it seemed to work. I’ll ask for you. And we are trying to keep the book at $20. And don’t worry about postage – I’ll make sure you get one 🙂

      Like

      • Aw thanks Michelle! That’s so sweet. 🙂

        Anyway, after wayyy too many tries on using Paypal (which for some reason won’t work), I gave up being stubborn abt it (haha oops.) & decided to just donate the regular credit card way – which works just fine!

        So one small donation (from me, & several other small donations from others) later – $15,385!

        Like

  6. Please tell J that her idea for people who don’t have much money to just give a penny is a great idea! It got me thinking…how many people don’t know about J or CMT? I’ll bet a lot. So…please let J know I donated one penny each for 10,000 people.

    Hugs and love to J.

    Like

  7. Just made a small donatation to beautiful Julianna.. Like I said before.. I love her and love reading your blog. Love your family’s strength. Stay strong!

    Like

  8. Donated a bit in Julianna’s honor to get you to 29% of your overall goal. I hope those who find their way here as a result of the People magazine article or CNN story find it within their hearts to give something, too. CMT affects a lot of people and any research towards ending it can have a huge impact on the quality of life for so many. Best wishes to you and your family, Michelle. I’ve gained an incredible amount of inspiration and strength from all of you. Especially the wit and wisdom of Julianna herself. Prayers for everyone’s continued health and happiness. God bless you all.

    Like

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s