Cue The Balloons, It’s Rare Disease Day!

February 29, 2016 is Rare Disease Day. Since we only got Nugget’s official diagnosis last August, this is our first. I’m guessing that for those of us who have or parent rare diseases this is a day to whoop it up right? We blow up balloons, whip up a genetic defect cake and celebrate being one in 50,000? Right? No? Well, like I said, this is my first Rare Disease Day so if I bring the wrong hors d’oeuvres, the Rare Disease peeps will cut me some slack.

Ok, just in case you do some Googling and blow my story, here’s the truth. In addition to the party, Rare Disease Day is actually for raising awareness about rare diseases to lawmakers, healthcare professionals, scientists and to the general public. It takes place the last day of February every year and started in Europe (Good on you for being proactive Europe) about 8 years ago and has been gaining steam worldwide ever since.

Personally, I’m down with all this because if you have a kid who’s illness is listed way in the back of the diagnosis manual, rather than on page 5, it’s tough to get what you need. Countless times I’ve reeled off Nugget’s handful of diagnoses to to medical professionals only to be met with blank stares, or “Huh. I’ll have to look that up.” Reassuring right? Sometimes as I’m explaining the syndrome or giving details of things like missing ear canals and jacked-up kidneys I physically work to suppress my urge to proclaim, “Um, you know I’m a C student who went to college for art, right? But I seem to know a lot more of these big, important, sciencey words than you. Doesn’t that freak you out?”

So here’s your rare disease science lesson for the day:

  • A rare disease is any disease that affects more than 1 in 1500.
  • 80% of rare diseases are genetic in nature and 50% of rare diseases effect children (Which totally sucks)
  • There are over 6000 diseases considered rare and those are difficult to track because symptoms and effects vary greatly from patient to patient.
  • There are seldom cures for rare diseases

Here are the odds on Nugget’s combo:

  • He’s got Microtia Atresia, which weighs in at 1 in 12,000 odds. (rare)
  • Due to the Microtia he’s got Unilateral Hearing Loss which has odds of only 1 in 1000 (not rare)
  • His form of kidney disease has odds of 1 in 1500 though add to that his birth defect and it’s higher. (rare)
  • He’s got Childhood Apraxia of Speech, which has odds of 1 in 1000 (also not rare)
  • But when you combine all of his little bits and pieces together to get his overarching diagnosis of Bracciotorenal Syndrome, he’s 1 in 50,000. WhooHoo! Go Nug Go!!! Time to draw Mama some lotto numbers!

Whew. That was lot of big words and math for today and not nearly enough smart ass comments and fart jokes. Sorry about that. I’ll do better later this week.

Sure it sucks dealing with a rare disease. It’s stressful and difficult but here’s how I look at it, I have a little fat guy that is happy and hilarious and it’s looking like he’s smarter than his father and I both. He’s tougher at 2.5 than most grown men from all he’s gone through and because of him I’ve learned a lot of big medical words, everything about medical billing and insurance, American Sign Language, how to adjust a hearing aid, and how to be one hell of an educational advocate.

Rare disease or not, our little one eared wonder is amazing so in honor of Rare Disease Day today, we are going to celebrate. We’re going to whip up a genetic defect cake, turn some healthcare grade latex gloves into party hats and bust a move to the musical stylings of Rachel for Signing Times. I could say he’s one of a kind, but I have actual, genetically tested proof that my Nugget is one in 50,000. That’s pretty freakin’ cool.

 

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I’m Pretty Sure It’s Bubonic Plague…

I’m writing this dispatch from deep within the trenches of what is sure to be the end game for our times. You see dear readers, it seems that in the past weeks our house has become ground zero for the 2016 outbreak of the Bubonic Plague. What? Too dramatic? Ok, the Black Death? Mock me if you wish but I’ve just contacted Amazon.com about ordering up a few black lung machines and an extra hyperbaric oxygen chamber for the living room and when you need to borrow it, I’ll remember this mocking.

As with any hard fought struggle, it’s not difficult to pinpoint the inciting incident that transformed a tiny battle into a full blown war.

Time: 17:00 hours

Day: Last Wednesday

Place: The Multipurpose Room of the family homestead, AKA, My Kitchen

Incident: My precious Nugget, having been rather ill all day, was sitting innocently on his loving mother’s hip as she argued with Nugget’s big brother, yet again, over the fact that he was going to do his homework and she didn’t care that he thought 2nd grade math was stupid because he was going to shut-up and do it anyway. While her mouth was in the fully open and upright position, darling Nugget unleashed a sneeze, expelling a mist most heinous of toxin-filled phlegm which drifted into all open air passages of said mother. Infection was not immediate but inevitable.

Intent: Was Nugget defending his brother? Did he believe he was taking down a tyrant? Or was it simply a very lucky shot by an uncontrolled toddler. The answer is not certain, but the truth is out there. (Sorry, I’ve been watching a little too much vintage X Files this week.)

While horrific, mucus-filled illnesses are to be expected this time of year, it’s not the norm for this family, especially, me – the matriarch. We tend to be astonishingly healthy, capable of dodging most cooties with a deflective wave of the hand. Sure, that Nugget may have drawn the short straw in regards to healthy ears and kidneys, which sometimes compromise his immunity, but for the most part, we don’t get sick.

For the past three years, Patient X, (aka Number one Son) has carried toxins home from the parasitic hotbed he visits daily known as elementary school, but we are generally able to fight those infectious bastards off with our Turk-centric diet and super-powered immunity. (To all those ladies at the food store who look at my cart like I’m running an illegal produce stand, suck it. It keeps us healthy. Or, it did.) In the off chance someone does fall victim to the odd cootie, they never seem to receive the full victimization of their peers and thus, we win again. Until now.

As of today, Nugget has been toxic for 9 ungodly days and I’m going on day 5. What in the name of all that is unholy is this crap?!?! Patient X brought it home two weeks ago and after coughing for two days, rebounded perfectly. Where is the justice in that Universe?

Fortunately, the Turk has not fallen. The fall of any man is a horrific trip into the overly dramatic realm but when a man with a genetic link to Genghis Khan falls ill, the drama reaches Medieval Torture levels. The mere fear of falling ill was so severe this past weekend that it drove him off for a mid-afternoon nap while I attended to the needs of the offspring amid feverish delusions. (For reals. If you think your man is bad…you got nothin’ on this one.)

I’m trying to fight though the phlegm but between the brain fog and decongestants, I’ve managed to delete three chapters of my current book, miss four deadlines, email my tax return to my dentist and send the Midget’s dental X-rays to the accountant, rebuy the same grocery list twice because I forgot I’d gone shopping yesterday and checked out an enormous stack of library books to entertain Nugget and then left them at the library. And it’s only Wednesday morning.

But fear not readers, Nugget and I are fighters. We will continue to medicate ourselves with a combination of early 90’s television and Bob the Builder as we await the return of our health, sanity and senses. (I got fart-bombed by a 7 year-old last night and had no sense of smell to save myself and my poor one-eared wonder has an infection in his lone ear giving him the sense of balance of a 10 month-old.) Alas, we shall overcome. I will pull him up to the top of that soiled tissue mountain and amid the confetti of cough drop wrappers, we will find greatness.

Vintage nurse
Photo: Imperial War Museums Collection

I Hear The Holy Water Burns…

I’m a lapsed Catholic. Ok, that’s an understatement. I progressed from lapsed to heathen years ago. I was raised in a hard-core Catholic family where you were only allowed to miss 8 o’clock mass on Sunday mornings in the case of projectile vomiting because that could be uncomfortable for those in the pew in front of you. Even if the Iowa winter had wrecked havoc on the roads between our farm and church, we still went because Jesus was expecting us. My parents that were strict but the real heavy was Grandma Mc.

According to Grandma Mc., eating meat on Friday, missing Catechism on Wednesday or skipping mass on a Holy Day of Obligation were sure tickets to purgatory. She kept a jelly jar of Holy Water in the fridge and would liberally douse you during tornado warnings, thunderstorms, before travels and whenever else she deemed you might need a little help from Jesus and her afternoon nap was sandwiched between the rosary and a Novena. That gurl was old school.

While those roots were deep, they weren’t solid. Once an adult, I’d hit mass only on  a rare occasion even though I had many friends who were priests. When I turned thirty, suppressed Catholic guilt caused me to join my neighborhood parish in Philadelphia. It was fine until I showed up late for Good Friday mass, saw the priest prostrated on the floor and the only connection I could make was to the Thornbirds. That’s when it occurred to me, perhaps, I wasn’t meant to be Catholic after all.

The demise of my soul was fine but once I had offspring, my latent Catholic tendencies returned and I thought I’d better try again. In 99% Muslim Turkey, our city had one Catholic Church but after extremists murdered the priest I made the call that Jesus was cool with me just being Catholic via the Internet. I did move mountains to make sure both of my kids were baptized once in the U.S. but that’s where it ended until now.

Since we are finally settled in one state I decided the boys need a little Jesus. We tried Vacation Bible School but after faking sick and complaining every day, Number One Son finally admitted, “I can’t deal Mom, there is just so much singing. Does Jesus really want so much singing? I don’t think so.” Word little buddy. So I made him a deal that if he went to 2nd grade Catechism and made his First Communion we’d call it good on his Jesus education and that’s where we are now.

Last week I attended the First Communion Preparation Parents Meeting. In a room full of 90 other Catholic parents I hoped there would be no sprinkling of Holy Water because obviously, it would burn my skin and reveal me for the heathen I am. I took my seat in the back, between Cathy Catholic and a very tired looking mom in scrubs texting like a tween. My vibes said while Cathy knew I was a fraud she would be torn as to wether the Lapsed vibes were coming from me or text mom.

As I listened to the priest prattle on about the life changing attributes of this event and why it was important that the boys wear dark socks (Because obviously Jesus is all about fashion do’s.) I realized, it’s over. I can’t even fake it anymore. I’m a Cultural Catholic, doing this because it’s part of my genetics and nothing more. I was pretty sure Cathy Catholic saw my epiphany and knew what was up but she kept it on the down low. Thanks Cath. I had this great dream that forcing my children through this would reignite something deep in my heathen soul. No go.

The light of my epiphany began to twinkle during the clothing selection portion of the meeting. “The girls’ dresses must be white and are traditionally made of her mother’s wedding dress.” (Back in ’79 I wore floral. It’s starting to come together now isn’t it? And PS, good thing I had boys because my wedding dress was red and my 2nd grade communicant would look like a harlot.) When the Religious Education Director was asked if boys could wear bow ties as opposed to just straight ties she was tossed into a stammering panic, “Well this has never come up before. I don’t know. I will have to ask Father and get back to you. We don’t usually deviate.” Since when is a bow tie a deviation? (Back in my Philly neighborhood the boys wore white tuxes, now that’s a life changing moment.)

My epiphany was affirmed with what followed after the Director added, “If anyone has food allergies please let me know that now.”

Logically, I assumed this was regarding the celebratory cake for the post-life-changing-event reception. I raised my hand, “Um, my kid is allergic to wheat but he can just avoid it.”

“Oh no he can’t.” She quickly refuted. “One cannot simply avoid the host at Communion.”

“Huh?” I was confused.

“Father will have a gluten-free host for him.”

“Hubba waaaaa? Jesus comes in gluten free? I mean, I’m not being fresh but isn’t this all based around that whole bread and wine equals Jesus’ body and blood thing?”

“Or course, but the Catholic church is understanding and we don’t like to exclude.”

My mind screamed- Guuuuuurl, since when? But for once my mouth remained silent as I processed the information. Thanks to his bum tum, my kid’s unleavened body of Jesus would be a rice cracker. Is this even legit? Does the Pope know? Does that mean he gets saki rather than wine?

I looked around to see if I was the only person who found this odd. I was. Catholic Cathy next to me was taking notes and text mom on my left was now asleep. I’ve been a lot of places and seen a lot of things in this world and perhaps I’m too doubting for organized religion.

It all comes down to the idea that maybe my kids don’t need Jesus to be moral people. The Turk grew up Jesus free and he’s one of the most moral people I know. I guess in the end, maybe Catholicism is just part of my culture like making colcannon on St. Paddy’s day or having a fondness for booze and it’s ok if my kids are just cultural Catholics too. I’ll lead them to mass but it’s their decision to swig the wine and buy into the gluten free host. As for me, I’ll be the one in the back row, dodging the Holy Water. I hear it burns.

Daughters of Wisdom (20)
Daughters of Wisdom Order

 

Transitions Aren’t Really My Bag

For the past weeks I’ve been singing David Bowie’s “Changes” in my head 24/7. No, it’s not just my way of mourning his departure, you see, my brain has always housed a revolving, anxiety appropriate soundtrack, lucky me. (You regulars might recall my Tom Petty phase following Nugget’s kidney surgery – if not, here – go read it and get yourself a few new ear worms.) Anyway, in anticipation of a big meeting this week, “Cha-cha-cha changes,” has been on auto-replay because we’re in for some changes at our house and I’m not ready.

This week we have our Early Intervention Transition meeting which is the first step in the process of moving Nugget’s developmental care from Early Intervention over to the school district when he reaches the big 0-3 in July. After these past months of Nugget coddling, the thought of this transition is enough to throw this Nervous Nelly into a tizzy. Since 3 is clearly the portal to manhood, his team of wonder women will no longer work with him in the comfort of our home, but rather come August, my little chubster is going to school.

While I’m incredibly grateful to live in a place with awesome Early Intervention services that have been in place since the one-eared wonder came home from the hospital it’s all happening too fast. My baby is about to hit the hard streets of preschool, complete with schoolyard fights and smoking under the jungle gym and chances are solid that my kid is the one with the lighter. (re-the fights, I’ve seen him in action and I’d put my money on him in any schoolyard cage match.) In just a few, short months, my little fat man will be taking the bus to his school every morning just like his brother. My Nugget is going to walk right up the steps and get on that bus (Ok, due to his inheritance of his mother’s tree stump legs he might need a little help with the stairs for a while but you get the gist) he’ll be a big kid. This isn’t supposed to happen until he’s at least 5! I need those 2 years to prepare my Pinterest-inspired, first day of school photo shoot damn it!

In preparation for all of this, we’ve been making the rounds checking out our school options and let me tell you, it’s a lot to take in. When I had my girlhood dreams about motherhood, (Ok I never really did that. I was more of a career -minded gal.) I never gave much thought to how one goes about choosing between deaf schools or developmental preschools. With Number One Son we debated between Montessori or Reggio Emilia methods and I was sure that if we chose wrong he’d be traumatized. Now, with Nugget, there is a pretty solid chance that if we choose wrong we really do risk traumatizing him.

Fortunately we live in a city that has two deaf schools, one that focuses on speech and one that focuses on ASL. Because he has partial hearing but no speech, both are options for us. ASL is currently his first language so that’s a solid choice but he’s showing signs that speech is coming (He currently speaks in vowels – “Ooooo,” sometimes he means no, sometimes go, sometimes it’s just oh. Thanks universe, because translating what the Turk means isn’t hard enough.) so that opens up options in the verbal deaf school too. Calgone, take me away.

We’re also preparing to do the IEP. Now for those of you not familiar with IEPs they are a big deal. This is his Individualized Education Plan that should guarantee him what he needs to succeed in a classroom such as an FM system so he can hear better with his hearing aid. Being a teacher, I’m well versed in the IEP biz but it’s a whole different ballgame when it’s your kid. I’m tasked with figuring out what will make my son academically successful when he’s still in diapers. Sweet Jesus give me strength.

And then of course, it all comes down to a negotiation between the school district and us as to what they think he needs versus what we think he needs and as is always the case, money is at the heart of that discussion because they are footing the bill. Suffice it to say, it’s all a bit stressful but we’ve been making decisions that will effect this kid’s entire life for a while now, so what the hell.

Tomorrow, nine representatives and involved parties will descend upon my home to start the negotiations. The Turk is so confused by the whole process he keeps saying, “What if you weren’t a teacher? How would I understand anything? Worse, what if I had to do this alone? “ (Finally, the man sees me for more than just my bodacious bod.) I’ve done my research and for now, I know what I want for my Nugget and I’ve no intention of stopping until I get exactly that. Watch out Hoosiers, I’m ‘bout to get all Philly up in here. “Yo. Yous betta be ready.” Special needs parenting is definitely not for the weak of heart.

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All I Need For Learning Is…Smut

When it comes to academic matters, the middle of the road is right where you’ll find me. However languages and math, not my thing. I barely passed algebra and only lasted one semester in Spanish. Fortunately, in 1986 there was no foreign language requirement madness. (Because obviously only English speakers existed back then.) Aside from being saddled with the moniker Margarita as my “soy en Español” (Perfect name in hindsight but a bit nerdy when you’re 14.) I learned more from Dora the Explorer than I did in that class.

Fast forward 20 years to 2006 and I’m married to a Turk and moving to Turkey. There was no choice, I had to learn Turkish. No one in the Turk’s family spoke English and very few people I met did either. Unfortunately, Turkish isn’t one of those languages you just pick up from hearing it all the time. The Turk enrolled me in some classes and after a few rough months, I was having fluent conversations with my 18 month old niece. It was not going well, until I found the magic key.

One Friday evening the Turk and I arrived home to find his mother distraught. Yilmaz had been arrested on charges trumped up by Filiz’s brother to keep them apart and Yilmaz, with his sexy Magnum PI mustache, was just too pretty for a Turkish prison. How would he make it? What was Filiz to do? What if she really was pregnant with his love child?

I racked my brain. Was Yilmaz a cousin or an uncle? Was he the guy that came for tea with the moderate ‘stache who smoked the Marlboros or the guy who came for tea with the mega-stache who smoked Camels (Don’t judge. When you’re new in a land where everyone (sometimes women too) are dark and hairy with huge ‘staches and names you can’t pronounce, you must categorize.) Turns out there is no cousin Yilmaz, rather, this was my first introduction to Turkish television dramas.

Turkish dramas are telenovelas with a Middle Eastern flare and the Turks eat them up. The drama, the cliffhangers, the bad acting, what’s not to love? The Turk and I were soon sucked in and for the next three months we spent our Friday nights in the sitting room sipping tea, eating nuts and watching love wax and wane between Yilmaz and Filiz. While things didn’t end well for Yilmaz, (He got a movie roll and thus had to be shived in prison. Oh, sorry- spoiler alert. ) my Turkish was increasing exponentially. I learned more Turkish from that show than all my classes plus it was certainly more exiting than listening to Teacher Mustafa.

Six months ago I learned that I’d have to do it all again. Nugget was 2 years old and had no verbal language. Couple that with being Hard of Hearing thanks to that missing ear and a diagnosis of BOR syndrome which comes with speech delays and motor processing issues and there was no choice, we needed to learn American Sign Language.

Not gonna lie, I’m old and the thought of adding a third language to my rusty mind was a bit intimidating but Early Intervention services gifted us an amazing deaf mentor/Fairy Deaf Godmother to ease the process. She’s shows up at our door once a week, waves her magic wand and suddenly Nugget is signing. (No really, that’s how it worked for him. Me? not quite.) She started with the most important words in our family: foods and Nugget took to ASL immediately. Instead of pointing and grunting in frustration, he could just sign, “Give me a cookie damn it!”

Though it’s been a lifesaver for Nugget, it’s still a new language and it’s not easy. Big Brother soaked it up like a sponge. The Turk, not so much. “Oh my God. I am still learning English, now this?” And me? Well a few months in I found myself stuck in the downward dip of a learning curve. Nothing new was sticking and I couldn’t get the rhythm for anything. As any adult would do, I determined it best to just take a break. Then, one night as I flipped channels awaiting my quality, kids-are-in-bed television to begin, (My 600 Pound Life- don’t judge. If you want to air your madness on television, hells yes I’m going to watch. Long Live TLC.) I happened upon a little show called Switched at Birth.

For those of you who aren’t hip to the trends of ABC Family, Switched at Birth is a teen drama about two girls who are….um…switched at birth…duh. But one girl, Daphne, is deaf. As I watched Daphne sign with her best friend Emmet at the deaf school and have hostile fights in ASL with her mother, I realized, I’d found my deaf Yilmaz and Filiz. Thank you universe.

By the end of my first episode I’d picked up new signs. By the time I’d binge watched my first 10 episodes, I’d learned about grammar, sentence structure and accents. It was amazing. The Turk got sucked in too. By the end of season two, I went from signing like a slow toddler to signing like a slow adolescent, hormonal hostility included. IT WAS AMAZING! Of course the teen angst and constant cliff-hangers only worked to make learning fun!

Best of all, my learning method has been sanctioned by our Fairy Deaf Godmother and due to the soap opera like nature of the show, I’ve been able to suck in quite a few other family and friends so we can expand Nugget’s communication circle even further. I think what’s important to note here is that should someone ever have the wisdom to combine quantum physics with trashy television, I’d be a freakin’ genius. All I need is smut and I can learn anything.

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