author and her son smiling outside

What I Wish I Knew the Day My Son Was Diagnosed With Angelman Syndrome

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February 7, 2001

Today is D-day. The day you will receive a diagnosis that will change your life forever. You will hear “Angelman syndrome” for the first time. The diagnosis will explain all of the challenges your firstborn has been facing — failure to thrive, ocular albinism and developmental delays. But there’s more. Your son will likely have seizures. He will never speak. He will need 24-hour care throughout his life.

At the same time, the geneticist will explain that parents who have children with special needs have a higher divorce rate. It will feel like your world has completely shattered in an instant. Not only do you have a 7-month-old son who has multiple, severe disabilities, but you suddenly question the strength of your marriage and your dream of having more children.

Since you’re in sheer panic from what you just read, let’s fast forward 14 years; you’ve always been one to cut to the chase. It’s 2015 and this year you will celebrate your 17th wedding anniversary. You’ve been blessed with four children, all of whom are special in their own way, and your son will find his greatest joy when he’s with his sisters and brother.

The first 14 years will see many challenges, the biggest one being seizures, but know he will be OK… and so will you.

author's son walking down a hallway with his walker

Be an admirable advocate for your son, not an angry one. There’s a big difference. It’s too easy to become angry at people who you feel aren’t giving you everything your son needs. Stop for a second and take a deep breath. Remember that it’s so much easier to help him when you feel like his doctors, nurses, therapists, teachers and caregivers want to be part of your team. Show them respect, and they will admire your calm approach.

You will learn to dream new dreams. Keep in mind that typical milestones such as learning to drive a car, going to prom, graduation, getting married, etc., are not going to be disappointing to him. Thinking about things he won’t experience is difficult for you but not for him. He’s a happy child. I’m not dismissing the fact that you will grieve for the loss of the child you thought you had, but you will also celebrate the one you have.

Along the way, you will find strength you never knew was within you. You will learn to appreciate the smallest things because you will realize that they actually are big things. You will cry tears of joy when you see how hard he works to feed himself and to walk, even though he may never do either of these things independently. Seeing him learn to pedal and steer an adaptive tricycle will be far more exciting than you can imagine. And he will surprise you countless times along the way, like when he learned to crawl at 12 years old.

He will bring selfless, caring people into your life, and soon you won’t be able to imagine life without them. Not only will you form lifelong friendships with professionals in both the medical and educational fields, you will meet so many amazing families who share the same diagnosis or similar challenges. Your son will soon become your greatest teacher. You will learn important life lessons that no one else could possibly teach you.

For now, just breathe. Try your best to not think about the “what ifs” — whether or not your marriage will survive and if your plan to have more children is suddenly far too scary.

You’ll convince your husband that you need marriage counseling as a preventative measure to ensure that you stay together. Your husband will agree to it because he loves you. But don’t expect the counselor to give you a certificate that says you’re guaranteed a successful marriage. Just know that your husband will do anything to help you adjust to the world of special needs. You have a strong foundation for your marriage, and your love and commitment to each other and to your son will guide you each day.

author and her son smiling outside

Above all, remember that your primary role is to be his mom. Although you will wear many hats and acquire many skills you never imagined, don’t feel like you have to be his therapist all the time. You can provide therapy too, but a therapist can’t be his mom. No one can possibly love him and comfort him the way you can. And don’t worry about what it’s going to be like changing your teenage son’s diaper. You know what? At age 14, it’s really no different than it was at age 13, and that wasn’t much different than at age 12.

You will do everything you can to help your son reach his full potential, whatever that potential may be. Try to spend less time worrying about the future, and live in the moment. Remember how your son’s smile always lights up a room and that his laughter is contagious. It won’t take long to realize that he doesn’t need words to say “I love you.”

It also won’t be long before you can’t imagine your son or your life any other way.

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]ghty.com. Please  include a photo for the piece, a photo of yourself and 1-2 sentence bio.

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Artist Takes Glamour Shots to Combat Stigma of Chronic Illness

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Karolyn Gehrig, a Los Angeles-based artist, is the inspiring woman behind the hashtag #HospitalGlam.

#HospitalGlam is a campaign Gehrig started to celebrate her body in the midst of the pain and uncertainty of her chronic illness.

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In 2003, Gehrig was diagnosed with Ehlers-Danlos syndrome (EDS), a genetic connective tissue disorder characterized by joint problems and skin tissue fragility, according to the Ehlers-Danlos National Foundation.

She began taking glamorous photos during the long hours she spent at the hospital for treatment and testing. When she started posting them online with the hashtag, other people began finding strength in her posts and joined in.

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Gehrig told Buzzfeed that the simple act of dressing up and taking the photos helps her reassert her own power over her body. Sharing the images spreads awareness and reduces the stigma associated with illness.

I want everyone who goes into a doctor’s office to feel empowered and that they can be themselves,” she told the outlet. “There’s nothing about being disabled that I should be ashamed of.”

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“I care for myself and I have no shame attached to the health issues that make up my life and the lives of the people who mean so much to me,” Gehrig wrote on Instagram. “Taking care of ourselves is paramount and no matter how you feel when you walk into that office, know that you are f*cking flawless.”

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For more on Gehrig and #HospitalGlam, check out her Instagram and Tumblr.

h/t Buzzfeed

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My Son Says ‘Mama’ in a Different Way Than Most, and I Love It

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image3 Before I began my career as a nurse, I worked as a preschool teacher (and I still wanted children!). I said things like “use your walking feet,” and “teeth are for smiling and eating apples but not biting our friends.” My personal favorite was “use your words.” I find myself using similar sayings when speaking to my children and sometimes even with my patients. And I never thought twice about requesting a child to use his or her words, until I realized my son might have difficulties forming and using his own words.

The idea that I wouldn’t hear the word “mama” uttered from his sweet little mouth until he was quite a bit older made my heart ache a bit. I could remember vividly when my daughter, still small enough to be in her pack-n-play, woke up in the middle of the night to nurse. She requested in a small but almost desperate tone for “Mama.” My husband looked startled and asked me if I’d heard it.

I was almost in tears because I’d heard much more than those two little syllables. I’d heard, “I love you, I need you, I know who you are and you have earned the right to be called my mama.” OK, so most of that was probably the sleep deprivation she imposed on us with her insistence on not sleeping. Ever. But there’s something so special about being Mama for your child for the first time.

Fast forward a couple of years and I found myself with a different little one in the same pack-n-play in our room. One particular night I sat staring at his little swaddled form and wondering when will I be “Mama” to him. What I found over the next few months is that “Mama” sounded different when said from Gabe. To him, “Mama” was outstretched hands and a giant soggy grin. It was a speed crawl with his head tucked under for maximum efficiency, directly to my ankles. It was a wobbly walk along the furniture to be wherever I was, just so he could place his chubby hand softly on my knee and look up at me with such adoration in his eyes that it could make my stomach flip flop. Currently, it’s a blonde hair, blue-eyed toddler, pulling at my shirt hem and saying “Ah-Mee” in his tiny toddler voice.

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You see, sometimes communication looks or sounds different than what we expect. For most, communication consists of the words we can hear. The understandable things spoken from ones mouth to another’s ear. For some, it could be their hands that communicate, allowing them to share their desires and appreciation. For others, it could be written word or touch-to-speak apps. The important thing to know is that communication can take on a variety of forms. It’s imperitive that we take the time to recognize that despite what you might or might not hear uttered from someone’s mouth, what they have to say is just as important to them as what you have to say is to you.

I challenge you to just take a moment the next time you have the opportunity to meet someone who’s style of communication seems different than yours, to stop and hear what they’re trying to say. It may take a little extra time for them to share it with you, but I’m almost certain it will be worth it.

This post originally appeared on Hand Me Downs.

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Dear Doctor Who Gave Us a Down Syndrome Diagnosis, This Is What You Should and Shouldn't Have Said

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Dear Doctor,

We tried for months to conceive, and we’re so thrilled to be pregnant again. Remember how excited I was at our first prenatal visit? Our 2-year-old daughter is going to be a big sister! My family and friends are so excited for us. I told everyone at work that I had the Panorama blood test and will find out the sex soon. I’m only 12 weeks pregnant. I’m anxiously awaiting your call. I think it’s a boy. My husband thinks it’s another girl. 

You’re calling me now. I see the number on my cellphone. I’m in a work meeting. I quickly hop up and run into the break room to answer the phone. It’s your voice. It’s not your nurse. Why would you be the one to call me if everything is OK? I can feel my body going numb. My knees are weak.

You’re about to tell me that my sweet baby has Down syndrome. I’m going to be devastated, scared and sad. I’m going to cry and yell, “No. No. No.”  Please, don’t say you’re sorry. I still have a child inside me. I still have a baby who is part of me and part of my husband. I still love this baby. Again, please don’t say you’re sorry.  

Before you tell me the news, make sure you have all the information I could possibly need. Don’t give it to me all at once.  Just have it ready if I ask. Make sure you have the number and website and literature from the local Down syndrome association. These people will be my lifeline. 

You just told me my sweet baby has Down syndrome. Please don’t ask me if I plan to terminate the pregnancy.  You see, I trust you. You’re my doctor. If you say “termination,” this confuses me. Am I supposed terminate the pregnancy? I don’t want to be asked this question. 

You just told me my daughter has Down syndrome. Please tell me I can still have dreams for her, plans for the future. Tell me this may not be what we’d planned but that you know children with Down syndrome can have happy, fulfilling lives.  

Just listen, be supportive and have factual information ready. Acknowledge that you don’t know everything about this diagnosis. It’s better than giving me the wrong information. Tell me my child may have some or none of the medical complications. Tell me there are adults with Down syndrome who have graduated from college, have jobs, careers, marriages, their own homes, businesses, driver’s licenses. 

When you send me to a specialist, make sure they’re sensitive, knowledgeable about Down syndrome and don’t talk above our heads. We’re going to see them a lot and need to make sure it’s a good fit for us. Tell us if we don’t care for this particular doctor, it’s OK to find someone else. 

Although this pregnancy might seem like it will be normal, treat me a little special. Make sure I don’t have to wait long to be seen when I come in for my prenatal visits. Be positive and upbeat but sensitive to our feelings and questions. We’re going through a lot right now. 

I’ll need to be induced to avoid further complications from an already difficult pregnancy. Tell me you’re so happy we made it this far and my baby is a fighter. Tell me you’re excited to help us bring this little champion into the world. 

You just delivered my sweet baby girl. Before you left, you put your hand on my arm, hugged me and said “Congratulations. She’s so beautiful. I’m so happy for you.”  That was the absolutely the right thing say to me. Thank you. 

Sincerely, 

Lorelei’s  Mommy 

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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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