Unrecognizable father with his son playing with cars

What I'm Thankful For as a Dad to a Son With Phelan-McDermid Syndrome

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I am thankful for many things today. But I’m particularly thankful for every hour of every day I have had the opportunity to spend with Olie.

When we became aware of Olie’s condition we did not know what to expect. I did, however, commit to accepting Olie for who he was, to not waste a single day with him, and to cherish every accomplishment he ever made – no matter how small. We heard it all from Olie’s doctors: He won’t live past 2 years old… he will never sit up on his own… his cognitive development will never exceed that of a 1-year-old. Over the years, Olie kept surprising us and kept reminding us that some milestones are more important than others. At less than six months he survived his first surgery – a mandibular distraction to correct a recessed chin. Olie struggled through a very rough 36 hours of recovery and graced us with his beautiful smile for the first time days later.

Time after time – surgeries, hospitalizations, and ambulance rides – Olie always bounced back with his same exuberance. I do not have enough resources to give Olie everything he deserves. The world does not have enough resources to give Olie everything he deserves. But somehow, this didn’t mean anything to Olie. He still perks up every time I come home from work. He still shows off his toothy grin every time I pick him up.

What I finally came to realize is that Olie made the same commitment to me that I made to him. He has never blamed me for not being able to being able to make his stomach work, or not being able to make him walk, or not being able to give him back that crucial part of his 22nd chromosome that I took for granted for much of my life. After almost every setback Olie bounced back with his same enthusiasm, charm, and love for his family and life. Never holding a grudge against me for not being able to help as much as I wish I could or for even making him go through a procedure that we could only assume he wanted in the first place.

I doubt I’ll ever meet a more perfect soul.

***

Oliver is 5 years old and lives in Atlanta, Georgia, with his mom, dad and 3-year-old brother Owen. Oliver has Phelan-McDermid syndrome and was recently diagnosed with leukemia. Home on hospice, his family is focusing on his comfort and happiness.

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Thinkstock photo by Halfpoint

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The Day My Daughter With 2 Rare Diagnoses Sat Up on Her Own

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When our daughter, E, was born 10 weeks early in July of 2014, the doctors told us to expect many developmental delays and to simply give her time to reach them. However, after each month passed with no progress, nary a roll or a sit, we knew something was amiss.

Then in October 2015, well past her first birthday, we discovered the reason why when we were given two diagnoses: Phelan-McDermid syndrome and a distal 7q duplication.

Suddenly, our girl who we thought just needed more time to hit milestones may now never meet them. Both syndromes are rare and the symptoms are extremely varied, which means there is limited knowledge on what to expect for her future. Each supposed certainty of her life has become a question. Her peers began to walk months ago, yet E couldn’t even sit independently, despite multiple therapy sessions a week.

But today was different.

E pushed herself up to sit — and sat by herself for five seconds. Then she kept doing it. Again. And again. And again. Each time more confident than the last.

And streams of my joyous tears continued to flow. I have almost never seen a sight as beautiful as she was today. Strong. Healthy. Happy. Independent. Proud.

I cannot begin to explain the amount of work she gone through to learn this skill. Every single day for at least a year. Pushing, prodding, positioning. Teaching E how to do something that should be second nature to her. Training her muscles. Every. Single. Day.

Days. Weeks. Months. Discouraging days. Regression. Losing skills we thought she mastered. Watching her try and work so hard. All the while knowing there was an end goal but never knowing if it would actually come.

Yet, there she was. Sitting up across the living room, looking for our faces and waiting for our praise. She looked like she had been doing this for ages. She was raking in the reward of all of those difficult days and her hard work. Beaming. Beautiful.

These days are the days we cling to. The days when comparison isn’t company, when we reap the reward of diligence, when we cry out in jubilation and she sparkles. B and I do, too, for that matter. Sparkling is contagious. We carry these sparkling days to light the path through our dark valleys. They remind us of the good that comes from determination, and there is even more good awaiting us ahead.

Friend, the road we walk may be long and hard, and the steps aren’t always clear. Though your goal may not be in your sights, I must tell you your work and your diligence will not be for nothing. You’re working towards your own radiant, sparkling day. I hope you will soon find that day to cling to and to cast light and hope onto discouraging, difficult times. I believe it would act as a reminder — like a kiss from Jesus — that your path has a purpose and you are meant to shine.

Follow this journey on Living a Life of Rarity.

Imagine someone Googling how to help you cope with your (or a loved one’s) diagnosis. Write the article you’d want them to find. If you’d like to participate, please check out our Submit a Story page for more about our submission guidelines.

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My Daughters Inspired Me to Wear This T-Shirt — for a Whole Year

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I have two beautiful daughters, 6-year-old Ashley and 4-year-old Emily. Emily has Phelan-McDermid syndrome, otherwise known as 22q13 deletion syndrome. It occurs from a deletion on chromosome 22q13 to the end of the chromosome. There are more than 1,300 registered cases of Phelan-McDermid syndrome worldwide, so Emily is 1 in 6,080,883. That makes her very special!

Victoria with daughters Ashley and Emily
Victoria with daughters Ashley and Emily.

Phelan-McDermid syndrome affects many aspects of Emily’s life. She has low muscle tone, which can make it difficult and very tiring for her to move and walk. She has developmental delay and is functioning at about the age of a newborn to 11-month-old. She has difficulty with both fine and gross motor skills, making attempts to communicate through signing a challenge. She is nonverbal and may never talk. Emily has a lower immune system, and she makes regular trips to the hospital due to seizures. But she is a total joy to be around; she’s taught us so much as parents, she makes us laugh and has so much love to give. She’s a complete sweetheart.

Every achievement Emily makes is massive and a wonderful celebration in our house. Instead of hitting milestones, we call them “inch stones,” and when she gets to them, the joy in our house blows the roof off. Not only does this joy explode from us, her proud parents, but also from her very loving older sister, Ashley. Ashley is wonderful with Emily. They interact with each other so beautifully, and it’s lovely to see them playing.

When my husband and I were first given Emily’s diagnoses, we felt like it was an advanced science lesson, learning about chromosomes and proteins. So I was completely caught off guard when one morning out of the blue, Ashley asked me why Emily couldn’t talk, why she was still like a baby and why she has to go to the hospital regularly. It was hard enough for us to understand, let alone a then-5-year-old girl. I tried my very best to explain Phelan-McDermid syndrome to Ashley in a language she could understand. I told her that we’re all made up of building blocks, like Lego pieces. These building blocks are inside us, and each color block can make up a different part of our body, like red for eyes, blue for hair, and yellow for heart. Emily is missing a very important part of the building block that helps her talk, move and do certain things. Right away, Ashley wanted to find her sister’s missing building block.

“Let’s find her building block then, Mommy. I’ve got a whole box of them in the play room. What color is it?”

I really had to try to hold it together after that. It was a beautiful moment of pure sisterly love that was completely devastating at the same time. I want to find her building block, too. I had to stay strong and continue trying to explain that it’s not a block that can be found, and it won’t grow back. Emily was born with it missing, and unfortunately it’s not something that can be added.

“Is that why Emily has to go to the hospital sometimes, Mommy, and gets sick a lot? What happens if I lose one of my building blocks?”

So many more questions followed, but I took my time with each and kept asking her if she wanted to know more and if she understood. I also wanted her to know that no matter what happens, we love her and Emily both so much, and nothing stops us from being a family and loving each other.

After our conversation, I went to the laundry room and bawled my eyes out. It was an overwhelming moment, but Ashley now seems to understand, and she has so much compassion for her sister. It has made me even more keen on raising awareness, so others can understand and have more compassion, too.

I feel it’s my mission to tell people about Phelan-McDermid syndrome, for my daughter and others like her. That’s why I started the 365 Days of Phelan Lucky campaign. My challenge is to wear my “Phelan Lucky” T-shirt for one whole year, all day every day, every event, any occasion! I’ve been documenting the campaign with a daily photo and reaching out to the media to raise awareness and funds for PMSF UK, the support group for the syndrome. Together we can raise awareness about Phelan-McDermid syndrome, and help Emily and her PMS brothers and sisters.

Support Victoria’s journey at 365 Days of Phelan Lucky.

The Mighty is asking the following: How would you describe your disability, disease or mental illness to a child? If you’ve done this before, tell us about that moment and the child’s reaction. 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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A Letter to Phelan-McDermid Syndrome

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Dear Phelan-McDermid Syndrome,

I’m writing this to you because I’m confused as to why you arrived at our doorstep. Not just you but your friends, polymicrogyria, hypotonia and cortical visual impairment, with their little groupies, seizures, acid reflux and “failure to thrive.” I just don’t understand why you’re here. I didn’t invite you. I was the pregnant woman who ate healthy, avoided my beloved ibuprofen and indulged in an occasional coffee (but immediately worried about it, so I really only ever drank half a cup). So why did you come to torment my sweet baby girl, to try to steal her from us? I did everything I could to keep you away. On the day I was told you were here I really didn’t understand all the ways in which you would impact our lives. Now I do.

Because of you, Bella will never tell me she loves me or call me “Mama.” Because of you, Bella will never play jump rope with her sisters or tattle on them for being mean. Because of you, I will never see her dance at her wedding or chase my grand-babies. Because of you, I sometimes cry myself to sleep. Because of you, I miss things like skiing with my big girls, and I often feel so alone and tired. You affect everyone in our family. Because of you, my husband often goes to sleep alone. Because of you, our extra money goes towards combatting you instead of towards fun things like vacations. Because of you, my big girls have told me they never get enough time with me, and it makes them feel cheated. Worst of all, because of you, I know I will attend my baby girl’s funeral — something no parent should have to endure.

To say these things make me angry or sad wouldn’t fully span the scope of my feelings. Some days your arrival feels like a tragedy I will never get over. Some days I hate you so much that I just want to scream and hit something.

But then there’s this… image

Because of you, I will never hear my baby say she hates me, like every little girl/teen says at some point. Because of you, Bella wants me to rock her every night and snuggle with her every day, even though she’s 5. Because of you, I’ve experienced unbelievable joy over such small but beautiful things: Bella grabbing my hand or hearing her most spectacular Ernie-like giggle. Because of you, I’ve found strength I never knew I had. Because of you I’ve felt the most intense gratefulness for every day she’s healthy and happy. Because of you, in a quiet moment my 11-year-old told me she thought I was so brave — the biggest compliment I’ve ever received.

And then I think about my husband, who’s used his mechanical know-how to create the most amazing things to help ease the burden of having you around. Because of you, I’ve seen a tender side of my husband that makes me love him even more. Because of you, our family sings and dances just to see Bella smile. Because of you, my older girls will walk up to someone in a wheelchair and introduce themselves. Because of you, I’ve seen a nurturing, selflessness in my 9-year-old that’s rare in one so young. Because of you, my big girls are so devoted to their little sister; they both aspire to be therapists when they grow up (and if they do, they will be amazing). Because of you, our family has adapted to what our life is, fought to find ways to make every day special and grown closer.

I imagine we will never know why you decided to show up or even whether you’ve been a blessing or a curse. I do know that because of you, we all rally behind Bella every single day. Because of you, we love stronger, we hold tighter. Because of you, we cherish every moment. If you’d not become our uninvited guest, we may be a different family. But maybe, just maybe, this family is exactly what we were meant to be.

For all of March, The Mighty is asking its readers the following: If you could write a letter to the disability or disease you (or a loved one) face, what would you say to it? If you’d like to participate, please send a blog post [email protected] Please  include a photo for the piece, a photo of yourself and 1-2 sentence bio.

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This Is the Real Barrier I Face Because of My Disability

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Dear Spinal Muscular Atrophy,

Oh, what a tangled web you weave. I grew up hating you because that was what was expected of me, but truthfully, you’ve also provided a lot of good to my life. How can I find a balance between dealing with the issues you present and being proud of who I am as person with a disability?

Yes, SMA is progressive. Yes, my muscles have gotten much weaker in the 34 years we’ve lived together. SMA can and does kill babies, but thanks to medical advancements, we are seeing many living longer lives. And that is the operative word: “living.

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It seems to me, SMA, that the bigger issue is how others treat us because of you. The biggest barrier is the lack of accessibility of much needed services: equipment needs, access to healthcare and access to care. With those things, many of us living with SMA have the ability to achieve whatever goals we set for ourselves. I see advancements in equipment as forms of technology that put me on a level playing field. As it should be!

Attitudes others have toward you, SMA, are quite stifling. Yes, I believe we need treatment options to eradicate the negative effects on our bodies, like respiratory issues, muscle weakness and for some of us, constant pain due to lack of movement. However, must we talk about you like you’ve made us less than, suffering or broken? Must we speak about “fixing you” as if some part of us is missing because of you, SMA? Those sentiments lead society to figure those of us with you are broken and less than able-bodied people, making it even harder for us to get those much needed services.

Many of us have found success. We are mothers, fathers, sisters, brothers, teachers, lawyers, filmmakers, doctors, aunts, uncles, cousins, students, actors, technology gurus, athletes, artists, writers and more. We come from all walks of life — all genders, sexualities, races, religions, cultures and nationalities. SMA doesn’t have to have us. It doesn’t have many of us.

You’ve made me more compassionate. You’ve made me more understanding. You’ve made me a better person, SMA, and for that, I thank you. I’m proud to be a person with a disability. I’m proud to show the world that people with disabilities are just as equal, just as capable and just as worthwhile as anyone else. Sure, you frustrate me some days, SMA, but I don’t think I’d be as good a person if you weren’t in my life.

Having you in my life has certainly helped to shape my worldview. It’s made me the strong disability advocate I am today, and I wouldn’t change anything about having you in my life. So, thank you, SMA. Without you, I would probably be ordinary. Because of you I am so much more.

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For all of March, The Mighty is asking its readers the following: If you could write a letter to the disability or disease you (or a loved one) face, what would you say to it? If you’d like to participate, please send a blog post [email protected] Please include a photo for the piece, a photo of yourself and 1-2 sentence bio.

Want to end the stigma around disability? Like us on Facebook.

And sign up for what we hope will be your favorite thing to read at night.

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What’s One Thing You Wish People Knew About Down Syndrome?

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What’s one thing you wish people knew about Down syndrome?

We asked our Mighty community this question, and they came through with powerful insights. Watch their awesome responses in the video above or read their answers below. You may learn a thing or two — we sure did.

Katie Driscoll and Grace Driscoll:

We want people to know that individuals living with Down syndrome have the same hopes, dreams and aspirations for independence and employment that everyone else has.

Jamie Brewer, actress:

We can do everything you can do. We are active, social and creative. Just like you.

The Stafford family:

My sister rocks her extra chromosome.

Jillian Benfield:

Down syndrome has a way of changing both people and families for the better.

David DeSanctis, star of the upcoming film “Where Hope Grows

If I can remember 130 lines for my part in the movie, then can’t you see my abilities, not my disabilities?

Sharon Randall:

Down syndrome does not define my son. He loves basketball, he’s good at math and spelling, and he plays too much Xbox. He also happens to have Down syndrome.

Anne Grunsted with wife, Valerie, and son, Bobby:

People with Down syndrome have their own unique personalities just like everyone else. Our son is silly, sweet and a huge ham for the camera.

Carole Janine Guess, National Down Syndrome Congress Board:

Down syndrome will not determine what my child will be when he grows up. He will.

Mardra and Marcus Sikora:

Madra: Down syndrome is one thing. Marcus is everything.

Marcus [singing]: I want to thank you for letting me be myself…again. – from Sly & the Family Stone’s “Thank You (Falettinme Be Mice Elf Agin)”

Sara Weir, President of the National Down Syndrome Society:

In 2015, people with Down syndrome are going to college, working, getting married and living independently. But as a national advocate for people with Down syndrome, we have so much more to accomplish.

The Parman Family:

[My daughter] is awesome. There is nothing we would change about her, and there is no way our family could be complete without her.

Thank you to our contributors, and Dalton for the music!

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