The Unforgettable Moments That Mark Milestones for Our Son With Angelman Syndrome

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The reminders are always there, sometimes when I least expect it. Today I realized my son is a few short months away from being age-eligible to work at a restaurant. I know that typically developing teenage guys learn to drive at this age. They may hang out with their friends, play sports and many dream about college and their future.

When my son was diagnosed with Angelman syndrome at 7 months old, the dreams I had imagined for him changed. In the past 15 years, I have slowly learned how to dream new dreams. I’ve also learned that it’s OK if the original dreams, marked by “typical” milestones, still make my heart ache. The ache dulls quickly, and I remember that these events don’t hurt my son.

Ann Marie Fennelly's son
Ann Marie and her son.

I never anticipated the level of joy I could feel when he met milestones that are so meaningful to him.  At 14 and a half years old, my son walked independently. Doctors told me that if he didn’t walk by age 7, he likely never would. He took his first steps on a Sunday afternoon in our home with his parents and three younger siblings cheering him on. February 22, 2014 was a day never to be forgotten.

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Other unforgettable moments include him learning to use a utensil for the first time, wanting to eat and not relying on a feeding tube for sole nutrition, walking up and down bus steps, sitting in a regular chair at a desk in his classroom in high school, and all of the times when he speaks to me with his eyes.

I don’t know what his future will look like, but I’m OK with that right now. My new dreams for him continue to evolve. I no longer imagine him and a date going to his high school prom, but I also never imagined that by his sophomore year he would have already been to three proms!  Now I wonder how many dances he will attend by the time he completes high school.

When he’s happy, I’m happy. Isn’t that what all of these milestones should be about anyway?

The Mighty is asking the following: What’s one thing you thought on the day of your or a loved one’s diagnosis that you later completely changed your mind about? If you’d like to participate, please send a blog post to community@themighty.com. 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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I Rode the ‘Short Bus’

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One of the “jokes” I despise the most is using the phrase “riding the short bus” to call someone “stupid.”

Many people don’t realize how important this separate school bus is. It’s often used to transport people with special needs to school. The service provides safety, as some people need extra assistance getting on a bus or require close supervision. These buses often stop right at its riders’ houses and gets them directly to a school entrance. They have a much quieter environment, which many people need, and an aide is usually there to assist if needed.

Christina and Emily
Christina and Emily

My sister Emily, who has Angelman syndrome, always rode that bus, and I never used to think anything of it. 

When I started at one of the public high schools, my sister was a senior there. I walked a couple blocks in the morning to wait for my bus, no matter the weather. I live in Wisconsin, so that is no laughing matter. Every morning at 6:55, I’d climb onto the crowded old bus and truck off to school.  

Come January, we were all miserable and cold every morning, no matter how bundled up we were. That was when the driver of Emily’s school bus offered to pick me up too. The driver got the request approved. I agreed to it, excited to no longer wait out in the cold.

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That was how I, a “typical” high schooler, began riding the “short bus” every morning for six months.

My sister was so excited. Throughout that year, I’d begun every day by visiting her special education classroom before class, and now we got to ride the bus together. It was a dream come true. 

It was in this way that I got a glimpse of my sister’s world. Only a few kids rode that bus, and it was usually quiet. Sometimes one boy with autism would excitedly lecture me about the Major League Baseball statistics he had memorized. The aide and the bus driver and I would chat. My sister would cuddle up next to me.

I loved visiting my sister’s classroom. It was her chaotic, loud, fun world. There were kids of varying abilities. It was there that I saw amazing friendships, both patience and frustration, unconditional love and more. To some, this environment would be overwhelming. To me, it was home.  

I switched to a smaller high school the next year, which was better socially for me, and Emily graduated that June and moved onto the school district’s transitional program. My time visiting her classroom was over, but I still look fondly back on it, even seven years later. I was able to observe other special education classrooms this past year, and I hadn’t realized how much I missed interacting with these exceptional students. 

The bus that takes people with special needs to school should never be made into a joke. My sister rode the “short bus” for her entire academic career. And, for six months in 2009, I had the honor of joining her.

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Doctors Commented on His Hair and Eye Color. Then We Found Out Why.

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The story I thought I was in was rubbed out and is being written all over again. I wrote the story while I was pregnant with Rufus and had pretty much got the final draft of the final chapter finished before I’d even given birth. I’d pictured his first steps, first word, first sentence, which school he and his sister would go to, how they’d play together, how she’d teach him things, how they’d argue, the holidays we’d have together, etc.

Of course, everyone who looked at my pregnant belly (including myself) thought there was a completely healthy baby inside. Why would I believe anything different? I can still remember being told at the 20-week scan that we had a “textbook baby.” What is that, anyway? Perfect, of course. Everything as it should be, where it should be, complete and perfect.

Except it wasn’t. It isn’t. Something is missing inside our beautiful baby boy’s body.

He was born 10 days early, and his birth was quick and pretty straightforward. I was in and out of hospital within half a day and back home. He gained weight well even though he was a fairly sickly baby and, amazingly, never seemed to cry for milk. He never seemed to cry for much at all, come to think of it; he was just as happy playing on the floor as he was in someone’s arms.

Around the eight-month mark, there was this tiny, nagging feeling that something just wasn’t right. Rufus was an incredibly happy baby, but he just didn’t seem to do much. If he was put down on his back, he stayed on his back. If he was put on his tummy, he face-planted the carpet, cried and stayed on his tummy. If he was put in a sitting position, he stayed in a sitting position until he toppled backward. He just didn’t seem to want to get anywhere or do anything. Whenever I mentioned it to people, I was told, “They all get there in their own time,” “Every baby is different,” “Boys are lazy” and “Enjoy your maternity leave and don’t spend it worrying.” The nine-month progress check sheet came in the mail, and my heart sank. He could only just do the most basic things a 9-month-old was expected to do. The majority of the check sheet just didn’t apply to him. Something wasn’t right.

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The 9-month check came and went, and letters began to arrive in the mail. First an appointment to see an orthoptist and second to see a pediatrician. Things were beginning to get medical now. Maybe Rufus wasn’t playing with toys and eating independently because there was a problem with his vision. Maybe if we got his eyes fixed, then everything would fall into place. Hopefully the pediatrician will tell us he’s fine, just a bit behind and will catch up.

But that’s not what the pediatrician said. The pediatrician said words like “developmental delay,” “diagnosis,” “disorder,” “syndrome” and “blood tests.” The pediatrician said that his squint might have something to do with his lack of hand-eye coordination, but it didn’t explain why our boy was still and silent.

Both the orthoptist and pediatrician mentioned how happy, blond and blue-eyed he was. Why would medical people talk about his appearance and demeanor? We leaned on Google for answers, and it brought us to an answer that changed our lives instantly. We came across a website that described Rufus perfectly.

Blond hair, blue eyes, fair skin, squinting, flat back of head, jerky movements, developmental delay, no babbling, feeding problems, sleep problems… the list went on and we discovered that this list came under a heading of a rare syndrome. We then began looking at photographs of children who shared this syndrome and felt as though we were looking at Rufus’s siblings.

We watched videos of these children on YouTube, and our hearts sank as we realized the future we were looking at for Rufus. We began to grieve for the boy we thought we had. We knew his future would be a whole lot more complex and difficult than we had ever imagined. The more we read and watched, the more we were convinced. The blood tests came and went and the pediatrician arrived with the results.

The pediatrician sent off a small sample of our boy’s blood to be looked at by geneticists and they found that something indeed was missing from inside his body — Rufus is missing a small part of the 15th chromosome. It’s the maternal copy that isn’t there. It got deleted when he was being made. We don’t know why. His brain can’t access the paternal copy, either. So there’s vital information that our boy doesn’t have. It’s so rare that only occurs in approximately 1 in 15,000 live births, but it has a name: Angelman syndrome.

baby kissing laughing mothers cheek

So that’s the story so far. Never in a million years would I have imagined that story when I thought of myself as a mom, when I became a mom to my daughter, Betsy, and when I was pregnant with Rufus.

The story I had imagined was actually a pretty dull one. Easier, but maybe not as colorful. You see, I think the new story is going to be a lot better.

The pages might be a bit damp with tear drops, but they will be full of little victories, milestones met at the most unexpected times, tales of friendships made with people we would never dream of meeting, cuddles and sloppy kisses from the most loving boy in the whole world, an unbreakable bond with the most protective sister, blessings beyond our wildest dreams and yes, all of the things I had dreamed of before.

There will be a first word.

There will be first steps.

We will wait and we will celebrate.

And we will love him.

A version of this post originally appeared on Lucy Hasler’s site.

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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

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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 community@themighty.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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Via Instagram

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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Via Instagram

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.”

Via Instagram
Via Instagram

“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.

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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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