A mom holding her small newborn close to her chest in a hospital bed

Why I No Longer Fear My Children's Disease

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Dear Bardet-Biedl Syndrome,

I first met you when I was 23 years old, when all my husband and I expected to find out was whether our first precious child was a boy or a girl. We met you through the words “her kidneys are a little too bright.” You struck through my heart with a new type of fear I’d never known existed. When Naomi was born I learned that you brought confusion and apprehension. Club feet? Large abdomen? Failing kidneys? Intensive care? What do you mean you don’t know what’s wrong? I had to learn to live with not knowing because no one knew who you were or what you would bring next. I had to learn to live with hoping you would stay quiet, whoever you were.

I slowly came to know you as Naomi grew. You were cystic kidneys and liver fibrosis. You were developmental delays and therapies. You were sensory integration disorder, and then you were autism. You were endless stuttering and endless tantruming. You were strabismus, a hernia and a heart murmur. To my great relief, two separate geneticists assured me you were not a genetic condition, and then, to my horror, my third daughter proved you were. You were all consuming.

Naomi Newborn

For Emma you were such a severe speech apraxia that we wondered if she would ever learn to speak. You were slowed brain waves, and we wondered if she could hear all right, if she could see all right, if she would learn at all. I begged the professionals to tell me who you were, but you were elusive, a monster in the shadows, and I feared you more than ever.

I set out to find you, to name you, to look you in the eyes and to fight you. You were doctor after doctor after doctor. You were a trip to the National Institutes of Health and innumerable trips to specialists in big cities hours from home. You were endless blood draws from my babies as I held them down and they screamed for me. You were ultrasounds and sedated MRIs. You were hours and days and weeks on the internet: on PubMed, in forums and in the bowels of genetics home reference. You were three trips to three different conferences where you weren’t. You were e-mails to professionals who sometimes answered and sometimes didn’t but who could never give me the answer I needed. You were a phantom. You haunted us.

When I finally pinned you to the ground with Wikipedia and a Facebook group, when I finally turned your hideous face to mine with definitive genetic testing that I arranged for, ordered and sent off with my own two battle-worn hands, when I finally drug you out of the shadows and looked you over from head to toe — you were worse than I’d ever imagined. You were in every cell of their bodies.

We’d already known you were kidney transplants and possible liver transplants. We’d known you were autism and clumsiness. Now I saw that you were also a lifelong battle with obesity and other endocrine disorders. You were precocious puberty. You were possible loss of smell, possible loss of hearing. And you were, without a doubt, progressive retinal degeneration. You were a lifetime of blindness that had already begun to take hold and was closing in fast, and I was terrified of you.

You were quiet tears that first night. Then you were long, quiet evenings on my front porch, watching the sun go down and the stars come out, the stars I’d just realized my daughters could no longer see. You were hours at the computer once again, finding friends who also knew you, grasping for words to unleash my heart on the screen. You were grief.

You were grief… and then you were courage. You were a new conference filled with new people who laughed with their white canes in hand, who smiled with their guide dogs by their sides, who greeted old friends and pushed for new research. You were a room filled with people who could never tame you but were at peace with you.

Dear Bardet-Biedl Syndrome, I want you to know that I realize you will always be grief, but you are more. You set a fire beneath me that’s taught me strength and tenacity. You’re a prod behind me, forcing me to push my limits. You’re an ominous cloud, urging me to savor the sunshine. You’re the boulder on my daughters’ shoulders that makes my heart swell with pride when they succeed, when they smile around you, when they wake up content to live each day underneath you. You’re the rod that’s beaten me to be more humble, more compassionate, more grateful and more joyful than I was without you.

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There are ways in which I, of course, wish I’d never met you, but I also know that you’ve formed us. I will never like you, but I’m no longer afraid of you. You are our story: confusion, grief, courage, joy and hope.

Your enemy and your friend, until death parts us,

Naomi and Emma’s Mom

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 to [email protected] Please  include a photo for the piece, a photo of yourself and 1-2 sentence bio.

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Why I View My Chiari Malformation as a Blessing, Not a Curse

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To my dearest Chiari Malformation Disorder,

I’ve lived with you my whole life, yet you didn’t affect me. You were dormant for so long, and I was so happy to live my life without a problem. I actually didn’t know about you until I was 14, and it was an accidental find. Why didn’t I decide to push them to repair it? Why didn’t I realize ahead of time that you were the problem, not hydrocephalus or cranio-facial dynstonia?

You made me to have three extra surgeries that ended up being unneeded. You made me get a shunt revision I really didn’t need. You made me live with that shunt for several years, until the company finally recalled it. You made me go to another hospital to revise said shunt because it didn’t need to be placed in my head to begin with.

You nearly took away my life. I struggled to breathe. I struggled to walk. I completely lost the ability to eat. I lost so much weight from you. I was pale and barely able to move because of the pain. And I was maybe a week from death when I finally had my surgery to remove you. You made me to miss out on so many high school opportunities. I had to miss out on my junior year completely. I had to miss out on a lot of my senior year. I had to beg my principal to allow me back as a senior, not a junior. I had to fight to graduate on time. I had to miss out on so many activities. Junior prom, senior prom, all the school dances. All because of you.

You made my left side completely stop working. You made me to have to relearn how to walk. You caused so much brain damage. I still struggle with eating. I still struggle with walking (a lot). I still fall all the time. And I’m still having a fairly difficult time with keeping up with schoolwork.

me with my diploma

And yet, you also taught me what it means to be brave. You taught me what it means to be strong. You taught me what it means to truly fight every day for what I need. You taught me the true meaning of strength and how to rely on others I  love to gain that strength. You ruined my life, and you changed it forever. You’ve caused insurmountable stress and extreme anxiety. You’ve caused so many bad things.

However, I’m choosing to look at you as a blessing, not a curse, and to look at all the things you’ve taught me about life. Because of you, I know the true meaning of life. Chiari, I will never forgive you. I will never be OK with what you did to me. I will never, ever again be able to truly be calm with any medical issue that occurs. I will never be the same person again. You’re an absolutely awful beast and one I wish I never had to deal with. I will never forgive you for everything you’ve done, and I will never forget the journey I’ve been on for many, many, many years.

With all my love and anger,
Natali

This post originally appeared on Amazingly Courageous.

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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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.

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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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Everything I Thought I Knew Before I Met Down Syndrome

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Dear Down syndrome,

I was so smart before I gave birth to you. I knew almost all there was to know about everything.

I knew books were pure knowledge and that a doctor’s knowledge knew no bounds.

I knew the Internet was a great place to find important, pertinent information.

I knew stereotypes were overblown and didn’t have to be harmful.

I knew the school systems in place were tried and true and that educators knew better than I do.

I also knew support groups were for the weak and more important, that I would never need one.

I knew there couldn’t be injustices in the world and that everyone was pretty much treated equally.

And I knew one’s own community should lead the charge without much room for trailblazers.

Since I gave birth to my son seven years ago, I’ve learned so much about you. I also know I still have a lot to learn.

I’ve learned that books aren’t always spot on — they might even be outdated.

I’ve learned that stereotypes are rarely criticized and yet always harmful.

I’ve learned that people who wear long white coats, carry clipboards and drive fancy cars aren’t always right or even sensitive.

I’ve learned that the Internet can be a struggle to navigate and a painful path to ignorance.

Because of you, I’m getting an inkling that the school systems and staff have some changing to do.

I’ve learned that support groups can be necessary to survive, and that I specifically couldn’t exist without one.

I’ve especially learned that there are many injustices in the world and that not everyone is treated equally.

And I’ve learned that in our own community, there is plenty of room for trailblazers, just like the one my son has proven to become.

So, Down syndrome, I want to thank you for teaching me and the world around us every day.

Who knew that in seven short years I could learn things it takes others a lifetime to learn.

Love,

Shawna Lochner

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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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