Rare Disease Day: Alone We Are Rare; Together We Are Strong

This “Do Me a Solid Sunday” happens to be Rare Disease Day.

A rare disease is one that affects fewer than 200,000 people. In the United States, more than 6,000 diseases meet this classification and together, these “rare” conditions affect about 30 million men, women and children.

That’s 1 in 10 Americans.

That’s not so rare after all, is it?

These afflictions are also often called "orphan" diseases because pharmaceutical companies have not "adopted" their cause. Why? Because with so few people having these conditions, there is little financial incentive for Big Medicine to develop treatments or cures.

Companies also aren’t stepping over one another to try to create a color-coded “cause marketing” campaign for a disease only handful of people have. The “corporate giving” many executives love to brag about to the media unfortunately tends to really be more of a strategy to build a brand’s image among a broad demographic of consumers than anything else. As such, rare diseases simply don’t offer much bang for the buck.

But that’s good business, right? Nothing personal.

Unless, of course, you or your child have one of these rare diseases.

Instead, affected families often either start their own mini-movements or, like our family did, throw themselves wholeheartedly into an existing grassroots organization that tries to make up for its size with its passion. (I know you’re expecting me to plug Cure JM Foundation and talk yet again about my daughter’s juvenile dermatomyositis -- DANG IT! I just did, didn’t I? -- but you’ve probably had enough that by now from me.)

Instead, I want to draw your attention to Ryan from Pacing the Panic Room and his son, Littlest Buddy.

Several months back, LB was diagnosed with Smith-Magenis Syndrome (SMS), a chromosomal disorder that can cause a host of physical and development issues. SMS was only first identified in the 1980s so that combined with its rare status means what little information out there on it isn’t very fulfilling or comforting. It’s a frightening and frustrating situation for Ryan and his wife Cole to be in (read his “Running on Empty” piece to better understand) and our family knows those feelings too well.

But Ryan and family aren’t sitting around wallowing and cursing. He has been working with musicians and artists to produce a children’s album to raise awareness of SMS and some cash to pay for research studies into the condition. To help promote his cause, Ryan shamelessly stole my idea of a blogosphere-wide day of recognition (Kidding! Kidding! Don’t hit me with that telephoto lens, dude!) and is asking people  to post info on the album on the day of its release.

Simple, huh? No cost to you other than a little of your time and blog space.

If you want to help Ryan out, read this post from his Web site and follow the instructions. He’ll get in touch with you when the time is right.

I hope each of you can spare a few minutes today at www.rarediseaseday.org to learn more about this day and maybe even offer some support to a needy “orphan.”

As the day's slogan goes, "Alone we are rare. Together we are strong."

Technorati Tags: Rare Disease Day,orphan diseases,children

Faint Connection

For more than 24 hours, I kept my morbid curiosity at bay.

Had I seen her on New Year’s Day 2009? Was she one of them?

Doesn’t matter.

Don’t look.

You have projects. Projects need planning. Plans need completing.

Was she among them? Was she among the many, many people who helped give the Things the time of their life that week?

I hit the “On” button anyway.

What is it that compels us to want to confirm these things? Why do we need to feel these faint connections that never really were there at all?

Human nature. Good, bad, ugly. Unexplainable. Sometimes you need to know, even if knowing means nothing.

(Clicking “My Pictures.” Clicking “2009.”)

That was an amazing week. From dawn to dusk to dawn again. Seven times in a row. The Make-a-Wish people had given us, especially Thing 1, an incredibly special treat.

(Clicking “Make a Wish” folder.)

In Orlando.

At Disney World.

At Universal Studios.

And at SeaWorld.

And if I’m right …

this woman …

is this woman …

(photo: Orlando Sentinel/AP)

is this woman.

I don’t know how to feel.

Do you?

Technorati Tags: Dawn Brancheau,SeaWorld,killer whales,Orlando

That’s Right, I’m Not From Texas (But Texas Occasionally Lets Me Bring My Nasally Northeastern Self Within Point-Blank Range)

A dozen things about my trip to Texas last week.

1. The annual Cure JM Foundation National Fundraiser and Educational in Austin was success. We had 200+ JM kids, parents, friends and family and more than 30 medical professionals in attendance – our biggest event ever. We raised $150,000, shy of our goal but not shabby considering the bad economy and Haiti situation probably hurt some of our fundraising efforts.

Note for next time: For event organizer, get George Clooney. Or at least Lionel Richie.

2. When I introduced myself at the conference to one of the speakers, a fairly prominent doctor with the Mayo Clinic, she said, “Oh. You must be the comedian who’s moderating our panel.” The Mother of All Uncoolness would not be happy about that remark. I, on the hand, moved on.

Right after I squirted her with a bottle of seltzer.

3. My Love finished the half marathon in under 3 hours. I offer proof:

Oops. Her head is blocking the clock. It read 2:56-something-something. You must admit, though, not a bad shot for me, the Master of the ‘Hold Out Your Arm and Take a Picture of Yourself’ Shot.

If you look a bit to the left of her head, right above the ear, you’ll see a little green blob in a vest. That’s Ron from Clark Kent’s Lunchbox. He was supposed to pass out water with our Cure JM team but arrived early and got roped into crowd/media control at the finish line. The race officials must have been aware of his secret identity -- mommyblog rabble-rouser.

4. Speaking of passing out water, Thing 1 did this for three straight hours without complaint. She stood smack at the front of the crowd so she was the first one the finishers got to see. How do I get her to replicate this exuberance when I ask her to do her homework? Or clear the table after dinner? Or protect her virginity until her inevitable marriage to Nick Jonas?

5. The finishers didn’t see me as I spent my three hours slicing the shrink wrap off cases of water and then peeling the wrap off the cases so it could be handed out. Ten days later, my right hand is still a bit cramped. At least I got to dust off the box-cutter skills I learned during my six-month hitch in the supermarket union back in the 1980s. Solidarity!

6. I ate more jalapenos in one week in Austin than I did all last year in the New England ‘burbs. Not that we don’t have jalapenos up here. It’s just that the key parties and youth soccer leagues generally keep life spicy enough.

7. Dined with three of my former college newspaper colleagues one night. One of them is now a rabbi. I swear on a stack of matzos, her actual name is Rabbi Cookie.

8. Did one of those Duck Boat tours of the city with The Sister of Uncool (Auntie Uncool to the Things) and the in-laws:

The driver kept making jokes about certain buildings in town being air conditioned. Might work 11 months out of the year in the Lone Star capital, but the day we took the tour it was 42 degrees outside.

Anyway, Thing 2 got to drive the Duck Boat.

We all lived to tell about it. All except that one seagull.

9. Met two of my DadCentric brethren. The Holmes introduced me to the joys of eating Mag Mud and my arteries refuse to forgive him for that. NYC transplant CroutonBoy confided to me that the best way to get Mom-101 to pimp a daddyblog (excuse me, Liz – blog written by a parent who happens not to be playing with a full set of XX chromosomes) is to a) live in the building next to hers or b) pump some drinks into her while surrounded by a table full of other bloggers who can hold her accountable. I can’t afford Five Boroughs rent, so: August ... BlogHer ... Tequila Shooters ... You ... Me. I’ll bring the Pepto-Bismol.

(Note: In the spirit of Liz’s Blog with Integrity movement, Pepto-Bismol did not pay for that reference. It didn’t even roll me over to kiss me goodbye, the cold-hearted bastard.)

10. Determined it is impossible to see a local band on 6th Street without meeting a music star. The first time I did this, back in 1996, I meet Travis Tritt. This time, I upgraded and hung with 96-year-old piano legend Pinetop Perkins:

See that glass on the table? Contains pure grain alcohol. And his bottom row of teeth.

11. Drove to San Antonio one day. Took the kids to The Alamo because that’s what you do in San Antonio when you’re not sipping margaritas by the River Walk, where I’m pretty certain they would have gotten carded (if nothing else, their lack of firearms would have raised suspicions). Regardless, The Things preferred the Guinness Book of World Records Museum across the street from The Alamo more. That’s right next to the Ripley’s Believe It or Not Museum and the wax museum. Texas pride, baby.

12. The Texas Capitol dome is 200-or-so-feet high inside.

That star -- it’s 8-feet wide. That coincides with the average size of a Texas politician’s ego.

This class on a field trip seemed pretty impressed by it, too. They didn’t utter a single sound while laying there staring up it.

Then I learned they were from the Texas School for the Deaf down the street. I would have signed “d’oh” but all I know how to do is the first few lines of “Sunshine on My Shoulders.” If you ever meet me, I will prove it to you.

Yeah, yeah. Shoot me now. Shoot me now. Go ahead.

Did I miss anything while I was gone?

Doin’ It Doggy Style

Our final guest in this week’s series, “When ‘Always Home’ Leaves His Home,” is the dynamic darling of the Great Plains, the acronymish FADKOG of For a Different Kind of Girl.

FADKOG and I share many things that even the best antibiotics won’t cure. A love of ‘80s music. A lust for Dairy Queen sundaes. Past lives as small-town journalists. And part-time jobs in the book-selling industry, though my sentence was commuted many, many years ago.

I paid her a surprise visit at her workplace just the other week …

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Being a bookseller is as glamorous as you imagine it to be. The constant stream of party invitations, photo shoots, and charity events on the calendar? Exhausting!

Then there's all the club openings and dodging the paparazzi as they jump out from between the shelves. It's a wonder I get anything done.

Oh sure, it sounds like fun, but it's also a lot of hard work. You don't just wake up one day and become someone like me. Oh no. You have to log a lot of hours behind a cash register before graduating to the sales floor and shifts filled with bright smiles plastered on your face even though every conversation you have in a six to eight-hour shift begins with the phrase, "I'm looking for a book."

However, you don't officially make it to celebrity bookseller status until you can cast aside your humility and don a giant animal costume for story time like I got to do last week when I was made to wear a Clifford the Big Red Dog costume. Only then will it feel like you've reached the summit and gotten that belly scratch from management that will make your back paws whip like a propeller, and all for less than $10 an hour!

And even though you're a glamorous bookseller, you won't pitch a diva fit when you pull that giant red fur rag out of its travel casket and suddenly imagine the many times it's been worn by other people. Other people who have christened it with their sweat and added to the fur-trapped funk cocktail so heady it can't even be described despite the fact I've been told many times I should write books rather than sell them, so I should have the proper adjectives, but no, I don't, because I still have a headache from the weight of Clifford's giant head pressing on my cranium. Thank heaven for that, really, because it forces me not to dwell on the idea that, while I hope it's not true, you know you'd fart in one of these big furry costumes, so I have to assume someone at some time has tested the acoustics by beeping their ass horn while in it. Sadly, I'm going on the assumption it's been everyone up to, but excluding, me.

Of course, you'll also have to endure the snickering of your fellow booksellers (who actually are laughing with you because you're such a hilarious star) and compel toddlers and preschoolers to pee their pants in either fear or mad lust as you lumber toward them with your giant red paw stretched out as though you wish to crush their tiny toddler heads. Better yet if you can get them to soil themselves in some combination of the two emotions. While crying. Or screaming. Or humping your fake fur covered leg, because I promise you, that's going to end up happening.

After wooing the young crowd with my animal magnetism, my team of assistants (remember ... we're glamorous!) packed the costume back up. Inside the shipping container, we found a little photo album in which previous Cliffords had documented their visits to other bookstores in the chain via Polaroid photos and notes. Many included lovely photos of them hugging young fans. Yawn. I suggested we include a vicious homage depicting Clifford, paws up, with a fake tire mark across his gut. Or a hand holding up Clifford's head only, two black X's over the dog's eyes. Or perhaps Clifford lounging in one of the comfy chairs set up around the store, one paw holding a tattered copy of Dog Fancy, the other holding...well, yeah. Where my dogs at, y'all! You can clearly see why management doesn't want to lose an employee like me!

Luckily for my booming career, someone special happened to walk into my store at just the right moment:

So yes, being a bookseller can be rough, but it does have its perks. If you keep your snout clean and have an overwhelming desire to help people who are looking for a book, you, too, could be one of the lucky ones, like me. A celebrity bookseller. Steeped in couture Clifford costumes. Rollin' in the slightly higher than minimum wage kibble. After hours howlin' with the Duke and Snoop (that's Marmaduke and Snoopy to those non-celebs). Yep. Good times.

Woof!

robot chicken - clifford the big red dog - Watch more Funny Videos

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My greatest thanks to my great guests and digital friends FADKOG, Homemaker Man and Anna Lefler for filling in for me this week, and thanks to all of you for not mooning them.

I’ll be back next week. Cheers!

Grand Theft Zamboni

Today’s guest in this week’s “When ‘Always Home’ Leaves His Home” series is the mysterious man from the north, Homemaker Man. He writes the fresh guffaw-fest Musings From The Big Pink, which I highly recommend to everyone in this fair land and points elsewhere.

Like me, Homemaker is an at-home dad with two kids and blog. However, he is cooler than me by miles – literally and figuratively -- as he drives a Zamboni.

Well, he used to drive a Zamboni. I’ll let him explain.

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There is no easy way to put this. The day I met Always Home and Uncool was the day I lost something special.

“Homemaker, I’m gone, it’s all you. Should be a slow night,” my boss yelled as he departed through the throng of arriving hockey parents. Dick.

I drive a Zamboni, you see. Or, I did.

Zamboni Driver is one part driver, one part night supervisor, one part mechanic and five parts Ice Cowboy. That’s eight parts -- over a whole of seven.

Zamboni driving is hairy. Improper fraction hairy. When I wasn’t whizzing around the ice at top speed, making it possible for youth league skaters to get berated by their lunatic parents, I was cleaning and maintaining the ol’ beauty.

Otherwise, I was (and still am) a stay-at-home-dad. This, of course, is a gateway drug to blogging.

So, I blogged it up a little. No big whoop. Along the way, I met the above mentioned character, A.H.A.U., online.

He’s another stay-at-home-dad. Real amicable, clever sort. Nice wife. Nice kids. Nice guy? Nice try.

He Google Buzzes me late one night, “I’ve always wanted to ride on a Zamboni.”

“Oh yeah?” I type.

“Yeah. I think it’d be awesome!”

“Well, Zambonis are tools, not toys. The things are two tons of moving belts and giant augers. They reach speeds upwards of 10 miles an hour.”

“Yeah, YEAH!” he buzzes back.

“Besides,” I type back, “you’re name is Always Home and blah blah blah. You’ll never come up here.”

“I’ll be there in two hours. Don’t make freakin’ ice with out me.”

“Whoa, watch the language,” I tap in but he never answers back. He’s in the minivan and on the way.

I figured what the hell. I’d take him out to make one ice, he’d be happy, the end. He was pretty amped up. I should’ve known what was coming.

He showed up about 2 hours later. He was wearing baggy cargo shorts, an oversized American Girl T-shirt and a white ball cap. In February. He was shivering, but I don’t think it was the cold. He reeked of hops and barley.

“You ready? “ I said.

“Frickin’ A!” he howled.

“All right, settle down George Carlin.”

We headed out to the Zamboni room. There she stood, silent -- but alert -- like a great cat. A great, rectangular, yellow cat that needs to be charged 3 times a day and runs on hydraulics.

“OmygodOMYGOD,” he said. He immediately stuck his arm in the giant ice-grinding auger and yelled, “Hit it!” I ignored him. I got him safely stowed on board and off we went.

It was on our third loop around the ice. The rink was quiet. All we could hear was the quiet spray of the water, the scraping of the blade against ice, and the 100-decibel growl and whine of two tons of 30-year-old electric ice-making equipment.

“Let’s steal it,” he staged whispered.

“What?” I pretended.

“Let’s steal it!”

Crazy bastard. It can’t be done

“OK!” I agreed.

We careened off the ice and made for the doors, digging up an eight-foot-wide swath of rubber skating rink floor as we went and replacing it with a sweet, sweeeeeet quarter-inch layer of ice.

We hit the doors at a full 10 mph. We stopped dead. Her bulk strained; willing, but not quite able.

He jumped off, got the doors open, and off we went.

It was amazing. The breeze tousled our hair as we opened her up full throttle. The blade ripped sparks from the asphalt and we set off to cover my entire city in a thin, glassy-smooth sheet of ice.

We got further than you might think. The cops came after us, but they couldn’t handle the ice. Even at full throttle that machine laid ice so pure and righteous that cop tires couldn’t stick to it.

They finally caught us. Four blocks later. The Zamboni’s charge had run out.

He was still laughing as the cops dragged him away. “It was frickin’ worth it!” He screamed.

Me. I never made ice again. Crazy son-of-a-bitch cost me that.

God, I miss him.

Privates of the Caribbean

The first guest in this week’s “When ‘Always Home’ Leaves His Home” series is the woman who will tickle you with more than just her mustache. She is writer/comedian/California-girl-and-three-quarters Anna Lefler (or Anna LeStache as she’s know on Urban Dictionary) from Life Just Keeps Getting Weirder.

I first met Anna and her hubby, Jon Bon Jovi (not his real name), a while back on what My Love and I thought was a Carnival Cruise to Cozumel and other tropical destinations where the main breakfast food is a delicacy known as “tequila.”

Little did we know.

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Dear Kevin,

Hi, there! Long time no talk, huh? Ha!

Listen, just wanted to drop you a line to say we hope you and Maude had a smooth trip home from Miami. It was such a scene there in the cruise ship terminal when everyone disembarked; we wanted to give you guys one last grizzly-bear hug, but I swear it was like you disappeared or something!

We didn't even get to give you the conch-shell cell phone holders we bought for you in the last port, but no worries. We'll just mail them. I know Maude will be excited when they arrive - you should have seen her face when I told her about them!

Anyway, we had a blast with you both these past two weeks. Who would have thought we'd end up crossing paths on a marriage workshop cruise, of all places? I must have said it to Jon Bon Jovi (there I go with my nicknames again) a dozen times, just like that. "JB," I'd say, "Who would have thought?"

And then to be assigned to the same breakout group every single day – wow! Talk about meant to be!

So, tell us, what did you guys think of the workshop? We thought it was fan-fargin'-tastic! We've been on these relationship workshop cruises before (Floating Encounters '04, Smooth Sailing 2006 and - after a brief separation in 2008 – last year's Hurricane of Harmony), but we both agree that this one was by far the best. You saw for yourself the breakthroughs we had in session, right?

I've got a feeling the results are going to stick this time, too. I'm happy to report that Jon Bon Jovi and I are continuing to honor our on-board "contract of courtesy." I know you know our issues, so I'll just tell you flat out: in the four days since we've been back, I have not used my Neti Pot during "SportsCenter" and he has not referred to my ceramics class as the "crockery coven." Talk about progress!

The thing is, Kevin, Jon Bon Jovi and I are kind of concerned about you and Maude. We couldn't help but notice that Maude started developing "headaches" that would cause her to miss our communal meals, even though she knew we saved her a seat right next to us. We also picked up on the fact that, during your hushed talks at the ship's rail, Maude would often gesture toward us when she wasn't wiping her nose with a soggy tissue.

We just want you to know that we get it. It's hard to be the rookies on the cruise and get paired up with a couple already so far down the road toward their Ultimate Togetherness Destination. In looking back now, we see that what Maude was saying when she was pointing at us was, "Why can't we be like them? How long must we wait before our Marital Feeling Flowers are as perky as theirs?"

Not to worry! Sometimes it takes more than one cruise to shake out all the kinks. Just look at us – four tours under our belts and I still sometimes wonder how it all would have turned out if I'd just slipped out of the Radisson that night and gone on to actuarial school like I'd planned.

So here's what we're thinking: there's another relationship cruise coming up next month out of San Pedro. It's called "Us-ward Bound" and it looks great! A week of counseling during the day, unlimited karaoke at night (see our song below!) and, while we're in Mexico, we can stock up on cheap prescriptions. They even have a rock-climbing wall right on the ship. Talk about trust-building! I've enclosed the brochure, but you should get in there right away while they're still giving the early-bird discount.

This is going to be great! We can't wait to hit the high seas with you two again. Oh, and Jon Bon Jovi wanted me to tell you he hasn't forgotten it's his turn to whale on you in the dead-arm contest.

Sugar all around,

Anna

P.S. Now I'm thinking that your wife's name isn't Maude after all. It starts with an "M" though, right? Sorry about that.