Why I Will Always Celebrate the Beauty of My Son’s Rare Disease

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Monday, February 29 was Rare Disease Day. In my wildest dreams, I never thought this day would hold such profound meaning for me. Yet when your beautiful child is born and swiftly diagnosed with a disorder that randomly affects one in 15,000 births, Rare Disease Day immediately becomes a permanent part of the fabric of your life.

Lately it’s hard for me to imagine that there was a time when I had not heard of Prader-Willi syndrome (PWS). It seems nearly impossible that I lived over two-thirds of my life completely ignorant to something that is now such a huge part of my every day.

When my son Kieran was first diagnosed with this rare disorder, I made a promise to him that I would never let it define him. And to this day, it certainly has not, nor has it held him back from trying and/or doing anything his peers have embarked on.

The reality is that Kieran is truly rare in so many wonderful ways. I like to think that he is literally one in a million. And after a crash course in complex genetics, it turns out that he actually might be, for even among the PWS community, his sub-type of the disorder is highly uncommon.

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Rebecca and her son Kieran.

Kieran’s rareness goes way beyond his chromosomal make-up and most certainly contributes to the unbelievably special little being that he is. Kieran is a true gem. A rare and sparkling one. The kind whose rarity you do not fully appreciate until you have it in your possession. The beauty of Kieran’s rareness is palpable and can be felt daily, both at school, at home and in between.

The way in which Kieran’s smile can win over anyone he meets within a few seconds, is rare.

The strong hug Kieran offers at the end of a long, hard day (simply because he can tell you need one) is rare.

The fact that each night Kieran never fails to remind us to give him his nightly shot so that he can stay healthy, big and strong, is rare.

The way Kieran can turn everyday errands into what he views as a great adventure, is rare. The reality that Kieran was once so weak that he could barely open his eyes yet is now counting, spelling, reading, writing, telling jokes, climbing stairs and keeping up with his two brothers (most of the time!) is rare.

And maybe most importantly, Kieran’s never-ending optimism, his ability to face each new challenge with strength, resiliency and an ear-to-ear grin is certainly rare.
Some nights, before I go to sleep, I sneak into Kieran’s room and simply watch him. I sit and silently stare at his little chest as it rises and falls with each breath. I think about all the phenomenal things he’s accomplished over the past (almost six!) years. I imagine all the wonderful milestones that may be a very real part of his future given the steep acceleration in PWS research that we’re seeing on the horizon.

I sometimes wonder what’s going through his little mind, what rare and magical moments are taking place in his dreams. With each breath he takes, I think about how grateful I am for all of the incredible people in Kieran’s life who continue to love and support him. That despite the sometimes difficult nature of his rare disorder, he is surrounded by sincere hope and promise from so many that continuously cheer for him.

There is no doubt that Kieran is both literally and figuratively a rare and beautiful being. And while I will continue to fundraise for treatments to help him overcome the many challenges that are thrown his way, I will also spend all upcoming Rare Disease Days celebrating him and his rareness, for without it, Kieran would be a very different soul. And while I would give absolutely anything to eliminate his daily struggles, I also want to keep him just the way he is.

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Rebecca and her sons.

The Mighty is asking the following: What’s one unexpected source of comfort when it comes to your (or a loved one’s) disability and/or disease? If you’d like to participate, please send a blog post to [email protected] Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.

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My Son Is 'More Affected' by His Diagnosis, and It’s OK to Talk About It

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IMAG3722_1 If you’re the parent of a child with special needs, I’m almost 100 percent certain you heard the same thing I did upon diagnosis. I’m willing to bet my right arm that a doctor, nurse or social worker urged you to “avoid comparisons between your child and ‘typical’ kids.”

“He’ll reach his own milestones,” everyone said. “Don’t compare little Kyler to little Johnny because Kyler has a different set of challenges.” Sounds like solid enough advice.

But what happens when little Kyler and little Johnny have the same disorder, and little Kyler is still developmentally way behind little Johnny? This is my experience.

Kyler, my amazing little superhero, falls on the “more affected” end of the developmental spectrum for his age and disorder. Maybe your child does too. Maybe you’re also frustrated that we tend to almost exclusively hear, “beating the odds” type stories and few that reflect experiences like ours. Here are some of my personal challenges and survival strategies for this less-publicized (but not uncommon) situation.

I knew what our Prader-Willi syndrome (PWS) diagnosis meant — or at least I thought I did. I was told Kyler would be delayed but with the advent of new medications, diets and supplement regimes, none of that would matter! Well, let me tell you: Kyler is on just about every remedy, shot and snake oil known to the PWS world, and he’s still not developing on par with his PWS peers. While some 2-year-olds with PWS are walking, talking, running and chomping chunks of steak with ease, Kyler is nonverbal, cannot ambulate on his own and is still eating small pieces of soft foods.

PWS and Kyler’s “more affected” status affects my life in ways I never would have been able to predict. Take social media, for instance. Platforms like Facebook have allowed me to not only connect with fellow PWS parents but also help me to stay up-to-date with the latest and greatest treatments. Unfortunately, Facebook can also be a breeding ground for insecurity. Like many people from my generation, I occasionally spend time jealously flipping through friends’ pictures of milestones, parties and exotic vacations. However, I also find myself compulsively analyzing pictures of toddlers with PWS who are singing the alphabet and climbing up and down stairs. I can’t help but wonder, “What the heck am I doing wrong?”

I try so hard to swallow my bitterness, and I’m genuinely happy for those kids who are doing awesome, but… man. I want my kid to beat the odds, too! We haven’t even encountered the later (and worse) stages of Prader-Willi syndrome, and I’m absolutely terrified those will hit Kyler just as hard. As new medications are developed, I hear things like, “Swallow your negativity, Megan! A cure is on the horizon!” The real truth, however, is that no pill, syrup or shot is going to replace Kyler’s missing piece of chromosome 15 (105 genes, to be exact). Besides, what happens if those medications don’t work for us just like everything else we’ve tried?

I think what much of my experience as a “more affected” parent reflects is the desire for a modicum of control. Our lives have a tendency to become crazy at a moment’s notice, and having something, anything as a constant is required to keep us from completely snapping and running around naked in public. I can attend college, maintain a 4.0 and act as full-time mom, caregiver and advocate. What I cannot control is how Prader-Willi syndrome affects Kyler or how various treatments affect (or don’t affect) his PWS. That’s so difficult.

I’ve been told by many in the special needs community, and even in my own family, that I have an overly negative or pessimistic outlook. It’s not that I don’t have hope for Kyler’s future — I’m excited by every milestone my little guy approaches with his characteristic methodical pace. However, I find that directly addressing Kyler’s current and potential limitations helps me make the best decisions for my family. Also, I’ve found that approaching PWS with a healthy dose of realism and skepticism has helped to minimize the stress and anxiety common to many special needs families.

It’s taken me a long time to come to terms with this, but Kyler’s disorder is Kyler’s disorder, and no one else’s. He may never recite Shakespeare’s sonnets or walk with ease (or who knows, maybe he will!). Our lives will always have a certain level of stress resulting from his disorder, but Kyler is smart, strong and amazing. He’s not just a little boy with Prader-Willi syndrome. Kyler is a superhero. And after all, is it really fair to compare a superhero to a mere “typical” human?

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If I'd Known All This on the Day of Diagnosis, I Would Have Cried Much Less

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When I look back on the day we received my beautiful son Kieran’s diagnosis, I wish I could have told myself he would become one of the happiest, brightest, most inquisitive and joyful children I would ever know.

When Kieran was only 10 days old, a multitude of complex tests confirmed a suspected diagnosis of Prader-Willi syndrome (PWS), a rare, non-inherited genetic disorder. I wish I’d taken to heart more quickly the words of the wonderful doctor who delivered the news. She told us to always remember that “Kieran may have PWS, but he is not PWS.” If only I could have seen a glimpse of the amazing boy Kieran would become, perhaps I wouldn’t have cried so hard on that unforgettable day. Perhaps I wouldn’t have spent the following days, weeks and months awake at night guiltily wondering “Why us?”

If only I could have told myself that Kieran would prove to be a determined child. That he would never, ever give up despite the small amount of genetic material he’s missing wreaking daily havoc on his little body. That despite severe hypotonia (low muscle tone), hypothyroidism, growth hormone deficiency, strabismus (a mild eye crossing), continuous physical lethargy, motor planning, processing and speech delays and a metabolism that’s half that of his typical peers, Kieran would approach each second of every minute of every day with zest, vigor and confidence. That despite the feeling of endless hunger Kieran faces (due to a malfunction in his hypothalamus) he would continue to approach every situation with a smile on his heartwarming face.

When I first heard the words “Prader-Willi syndrome,” I wish I could have caught a glimpse — just a minuscule vision — of this miraculous, charming, witty, sweet, kind and inspirational being whom Kieran has become today. I wish I could have told myself that the hefty regimen of speech, physical and occupational therapy Kieran began in the NICU (and which he still continues) would surely pay off. That despite laying motionless for many weeks at birth, Kieran would learn to walk (to run, in fact!). That despite being unable to utter a sound until he was almost 6 months old, Kieran would learn to speak in full sentences. That despite being unable to connect or interact with anyone for many months after his birth, Kieran would attend a typical preschool with peers his own age.

If only I’d known that only four years later, Kieran would wake up each morning singing his ABC’s, counting to 10 and practicing spelling his name. That despite it taking years for Kieran to be able to keep up with his older brother, Jackson, and his younger brother, Julian (born two years after him), Kieran would develop strong and indestructible bonds with both of his siblings.

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If only I could have known that one day Kieran would refuse to go to sleep each night without wrapping his arms tightly around my neck and whispering, “I love you Super Mommy” in my ear.

As I look back on that day almost five years ago, I wish I could have told myself that although my heart would never fully heal (and it might continue to break a bit more with each new challenge thrown his way) it would sing loudly and proudly with all of his endless accomplishments.

Perhaps if I’d known this is where we’d be today — that Kieran’s vast abilities would greatly outweigh his disabilities — I would have cried much less and laughed much more.

And if only I could have told myself that while this journey with PWS would undoubtedly be difficult at times, the countless obstacles Kieran would continue to overcome would somehow make each upcoming mountain that much easier to climb.

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For all of January, The Mighty is asking its readers this question: If you could go back to the day you (or a loved one) got a diagnosis, what would you tell yourself? If you’d like to participate, please send a blog post to [email protected] Please  include a photo for the piece, a photo of yourself and 1-2 sentence bio.

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This Punk Band of Musicians With Intellectual Disabilities May Soon Perform In Front of Millions

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Pertti Kurikan Nimipäivät, better known as PKN, is a Finnish punk band whose members are all middle-aged men with intellectual disabilities.

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The band, formed in 2009, gained a lot of popularity after a documentary about them, called “The Punk Syndrome,” was released in Spring 2012.

The documentary followed band members Pertti Kurikka (guitar), Kari Aalto (vocals), Sami Helle (bass) and Toni Välitalo (drums) as they grappled with their newfound notoriety, as well as the challenges living with disability present.

We bring a different kind of perspective into punk music; it’s our perspective,” Helle, the band’s bassist, said in a press release. “We’re different, we’re four mentally handicapped guys so our perspective on the world of punk is a little different.”

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Recently, PKN has made it to the Finnish qualification round of the widely-popular singing show, Eurovision Song Contest, the band’s management told The Mighty. If they win the national competition in February, they get to represent Finland at the Eurovision finals in Vienna in May.

The Eurovision Song Contest has been ongoing in Europe since 1956. It boasts an estimated 180 million viewers every year, according to its website.

Stay tuned to see if PKN makes it to the big stage this May.

Check out the official trailer to The Punk Syndrome below:

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Once I Saw Past the Diagnosis, I Realized We Hit the Jackpot

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10355634_780443955325010_3100651861614908886_o Two years ago, we went in for our gender reveal ultra sound to hear we’d be having another girl. Instead, we left that appointment shaken. Our OB gently told us that they found small calcium deposits on Kennedy’s heart. They said we shouldn’t be alarmed, but an appointment had already been arranged for us at a nearby high-risk obstetrics office to complete a better scan.

We rushed over to Baptist Hospital to see this new OB as quickly as we could, Googling the whole way over an endless list of the problems these deposits could indicate. “Down syndrome” was the reoccurring term, and to us, that was terrifying.

Our daughter’s abnormal heart should have been more than enough for us to have to digest, but adding a genetic diagnosis on top was just too hard to swallow. The scan was completed just hours later, and we found ourselves sitting down with a whole new doctor for the news. He told us he felt he had enough evidence to convince him our girl, KC, has Trisomy 21. Down syndrome. I’ll be honest; in that moment, my heart ached. Our daughter was not who I thought she was; she was someone else entirely. I was totally consumed with fears of the unknown. I spent days replaying the doctors words in my head. I wanted so desperately to make sense of something I couldn’t understand.

“She may have a serious heart defect.”

“She probably has Down syndrome.”

“We will set you guys up with a genetic counselor who will go over what else you may expect in children with Down syndrome.”

These were sentences from the doctor’s mouth that couldn’t wrap around my head. It took about two more weeks for me to move beyond those words. When I finally made the choice to think past her diagnosis and focus on the daughter/sister/baby we once celebrated, I was finally able to conquer my fears. Looking back now, I would do anything to change my feelings on that day. I would erase every trace of the wasted heartache I felt. I wish so badly I could tell two-years-ago me on that very day, not to fear or worry about that diagnosis.

Because when I look at her sweet smile, it will be impossible to think anything other than, “Man, we hit the jackpot (again)!”

Follow this journey on Team KC.

For all of January, The Mighty is asking its readers this question: If you could go back to the day you (or a loved one) got a diagnosis, what would you tell yourself? If you’d like to participate, please send a blog post to [email protected] Please  include a photo for the piece, a photo of yourself and 1-2 sentence bio.

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The Person Who Made Me Realize Those Outside the Autism Community Could ‘Get’ It, Too

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IMG_20140825_082322609 Since the day my son was diagnosed with Asperger syndrome, assuming the role of advocate has been nothing short of exhausting. While the professionals (most of them) “get it,” attempting to help others understand can be stressful and frustrating. Recently, after three years, I’ve found someone involved in my son’s life who not only understands but is willing to educate herself in unfamiliar areas of autism. A teacher. A fabulous, caring, compassionate, remarkable woman who’s my son’s first-grade teacher.

Too often people outside the world of autism struggle to understand what it’s like to live in our world. Living with a child on the spectrum is exactly that… a different world. Most of the time people really don’t “get it.”  So many people are quick to make assumptions and judge autism spectrum disorder (ASD) families — especially when they’re out in public. Without awareness about autism, it of course seems as though my child rolling on the floor through the aisles at the grocery store is just a bad kid. Others may not be aware of the painful stimuli (bright lights, noises, etc.) that have become too overwhelming for our child in that moment. As an ASD mom, I’ve learned to brush off this harsh reality and continue to raise awareness to those who are willing to listen.

Collaborating with professionals can be very tedious. Always trying to keep everyone on the same page (in a world that’s constantly changing) is draining. There are so many little things to make people aware of. I’ve found that a lot of my free time is spent making phone calls, sending emails, preparing documents, etc. It’s only natural to want this time to at least be somewhat enjoyable, right?

My son’s teacher has done just that. She’s made this “free” time enjoyable for me. You see, professionals are supposed to communicate and work with the parents to help the child. General education teachers, while professionals in their own field, are certainly not autism experts. They don’t have to look outside the realm of general education. There are plenty of teachers who are rigid and aren’t willing to think outside the box. So when a person goes that extra mile to understand my son, it makes my job as advocate that much easier. That in itself is enjoyable.

My son loves his teacher. When a child comes home from school and talks about his/her teacher nonstop, it’s safe to say the teacher is making a difference. To me, making a difference is what life is all about.

My son’s teacher has shown me that there are people in this world who are willing to listen. People outside the world of autism can take a step back and just simply watch. Judgment is not all there is to people who are uneducated about the outside world. For that I am forever grateful.

I’d like to publicly thank my son’s teacher. To let her know I appreciate her making my job as advocate effortless. For reaching out, for educating herself, for her willingness to listen and for going that extra mile. Most important, I want to thank her for touching my heart and the heart of my boy.

Thank you for “getting” it.

What a blessing this journey has been.

This post originally appeared on Open Your Box.

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