five children smiling and hugging outside

I used to believe that if you had something wrong with you, you could head to the doctor and he or she would run a few tests and then tell you what was wrong. It wasn’t until I had two daughters born with a rare presentation of a rare genetic condition that I realized even specialists might not have answers for us.

Three geneticists and a dozen specialists missed the correct diagnosis for my daughters, and none of them seemed to think it really mattered. I finally realized I might be the only person in the world who was capable of dedicating years to research my daughter’s condition, correctly diagnose it and see that my children get the best care possible. I had to come to terms with the reality that I was the world’s leading expert on my daughters.

Here’s what I did to help my daughters get the best medical care and why it mattered:

1. I learned as much as I could about their symptoms.

When my girls were little, all I knew was they had an unknown genetic kidney disease, so I started with learning about kidneys. I Googled hundreds of foreign-sounding medical terms, looked at medical diagrams of kidneys and learned the proper reference ranges for the lab tests the doctors were ordering. I asked questions at appointments and asked the doctors to use medical terminology with me instead of layman’s terms. If I didn’t understand something, I’d ask them to explain it. I made sure they were helping me learn about my daughter’s condition.

I also began requesting copies of my girls’ lab and imaging test results. I wanted to read them myself and learn to understand them. I did occasionally misunderstand results and annoy some doctors, but it was a necessary part of the learning process.

2. I helped all the girls’ specialists work together.

I kept a binder for each of my girls’ test results as well as CDs with imaging pictures, which I took to all of their appointments. With the girls seeing up to six different specialists, things could get confusing. Having test results easily accessible did four things: helped each specialist know exactly what the others were doing; helped each specialist view my child as a whole child with a complex set of symptoms, rather than just focusing on one body system; saved my girls from unnecessary repeat procedures; and won the instant respect of the medical professionals.

I came to each appointment prepared to update the doctors on new symptoms, test results or concerns for my children. I came ready to ask questions about any research I had been doing. I came ready to ask if they would be willing to run tests that I thought might be helpful.

3. I read medical journal articles to understand all the possible diagnoses for my girls and to pinpoint which ones best matched their symptoms.

As my girls grew older, their list of unexplained symptoms grew: sensory processing disorder, Asperger syndrome, strabismus (crossed eyes), heart murmurs, speech apraxia, abnormally slow brain waves, vision problems, inexplicable weight gain and developmental delays. None of these were symptoms that should have resulted from the kidney disease the doctors thought they had. They didn’t think that a genetic diagnosis would change the way we managed the symptoms, but I knew it mattered, so I dedicated myself to finding it. I spent hours and hours on Wikipedia, Pub Med, Genetics Home Reference and good old Google searches.

4. I went to conferences about genetic disorders that related to their symptoms.

In the 10 years it took to diagnose my daughters’ disorder, my husband and I attended four medical conferences on syndromes related to my girls’ symptoms. The first three turned out not to be their syndrome, but I gained valuable information, experiences and relationships from attending these conferences that helped to eventually lead us to the correct diagnosis.

5. I networked with people who were knowledgeable about my girls’ possible diagnoses.

I located online e-mail groups and later Facebook groups where I could ask questions and read about other people’s experiences. I quickly learned that parents and the patients who live with the genetic syndromes can be the real experts. The people in these groups were also able to point me to doctors and researchers who might be willing to read an e-mail from me and give me an opinion on my daughters’ case.

6. I enrolled my girls in studies that included free genetic testing.

After years of learning, researching, pushing for answers and ruling out conditions, I was relatively certain my girls had a rare presentation of a rare genetic disorder called Bardet-Biedl Syndrome (BBS), even though a geneticist at a major children’s hospital told me it wasn’t. I found an upcoming conference at the University of Iowa where free genetic testing was being offered for study purposes. Two months later we received the results of the girls’ genetic testing: they did indeed have BBS.

Why does a diagnosis matter?

It’s important my girls received a correct diagnosis so we can properly understand and address the challenges they face. It’s important for everyone to know my daughter will never “grow out of” her speech impairment, so she can receive the highest quality therapy for as long as it’s needed. It’s important the doctors understand my daughter’s obesity is a direct result of her hypothalamus not receiving satiety signals. It’s important to know my girls have BBS because it can cause a host of different problems in nearly every body system we need to be actively watching for, not just reacting to.

When my doctors told me that a diagnosis didn’t matter, they didn’t realize we needed to be screening the girls for thyroid disorder, hormone imbalances, lipid problems and type 2 diabetes. They also didn’t realize my girls were slowly losing their vision, and they would likely be blind by early adulthood or sooner. But because we have this diagnosis we can do everything possible to prepare them now and to be ready when that day comes.

With a diagnosis, I don’t have to live my life surprised and bewildered by my girls’ condition and every new symptom that unexpectedly pops up. For the first time, I feel a measure of strength and dignity where there had been doubts and fear, and now that we know what we are fighting, we are ready to fight.

five children smiling and hugging outside

Do you have a story about your experience with disability or disease? Maybe a moment that made a big impact on you? Please send it to [email protected] and include a photo for the story, a photo of yourself and a 1-2 sentence bio. Check out our Share Your Story page for more about our submission guidelines.

RELATED VIDEOS


When I was 23 years old, I stood in the corner of a little room in the Emergency Department watching nurses and technicians pin down my first child. My tiny, 2-week-old daughter. She screamed for me and I held back tears as they stuck her over and over again, searching for a vein.

We were both exhausted. I was still reeling from the news she had been born with an unnamed genetic condition, and I was trying to understand what her life would look like now. She had spent five days in intensive care, had been home for one sleepless and depleting week, and then we had to bring her to the hospital for some lab work. The stick had been bad enough, but as soon as we got home the doctor called and told us to head to the Emergency Department.

There we were, with the ED nurses calling in the NICU nurses who were holding red flashlights up to my daughter’s delicate skin, stretching it tight and straining to hit a vein again and again because the doctors couldn’t believe the lab results. I was helpless. When they finally believed the numbers, we were admitted to the Pediatric Intensive Care Unit. I sat there listening to all the foreign beeping machines, wondering if this was what my daughter’s life was going to be like. That was my lowest point. Things seemed so dark in that room.

When we finally made it home for good, the frequent trips to the hospital for lab work and imaging tests depressed me. I remembered how scared I had been as a child when I got kindergarten vaccines. I couldn’t imagine how horrible a childhood filled with frequent lab draws and tests would be. I ached just thinking about the pain that would mark my daughter’s childhood.

But I was wrong. I didn’t realize how strong my daughter would become.

unnamed-80

I didn’t realize by the time she was 3 years old, she would understand what a blood draw was for, and that they hurt less if you hold still quietly. I didn’t know that a Dora sticker would more than make up for the prick, and that the memory of the routine lab-draw wouldn’t make any more impression than the band-aid on her arm.

I didn’t realize for a child who was accustomed to blood draws, routine vaccinations would be a cake-walk. That when the nurse would say, “Wow! You’re sure brave!” she would give a look that said, “You’re not from around here, are you? We’ve seen a lot bigger needles, honey.”

I didn’t know that she would handle ultrasounds and office visits with the ease of a kid putting in a normal school day.

I didn’t imagine by the time she was 11, when a new phlebotomist asked if she’d ever had her blood drawn, she would roll her eyes and answer, “Umm, only a million times,” and then flash a million-dollar smile that would make everyone laugh.

I had no way of knowing how far that kind of strength would carry her. Now, at age 11, she isn’t the most skilled girl on her soccer team, but the hardest working. She has ankles that turn every game, but keeps getting back up. Her reflexes are slow, but a ball to the face wouldn’t convince her to sit it out. She cries almost every week at therapies, but never asks to stop going and never stops trying.

Last year, we found out on top of kidney failure and liver disease, she was also losing her vision. It didn’t take long before she wanted to know how soon she could learn Braille and if this meant she could get a guide dog.

Then, I didn’t know how wrong I was. My daughter’s childhood wasn’t filled with pain, at least not much. On our good days it was filled with all the brightness and beauty of any other childhood: trips to the zoo, bedtime stories, birthday cakes and building snowmen. And on our hard days and hard days did come it was filled with tenacity, courage and the joy of overcoming. Or at least the joy of meeting challenges bravely and never backing down.

unnamed-81

Want to celebrate the human spirit? Like us on Facebook.

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


The first thing the doctor noticed when my daughter Naomi was born was her club feet. It was two hours later that the nurse, who was giving Naomi her bath, called the doctor back to look at my child’s distended abdomen.

Naomi was born with a rare genetic condition that wouldn’t finally be diagnosed until she was 10 years old. Her large, round abdomen — the result of her poorly formed abdominal muscles — was one of the least of her medical worries, but the symptom drew the most negative attention during her early years. By the time Naomi was a toddler her pregnant-looking belly drew stares in public.

One day as I walked Naomi up the sidewalk to our house, one of our neighbors, an elderly woman who spoke no English, came right up to Naomi and lifted up her shirt. She stood looking confused at my daughter’s bare tummy while I tried to figure out how to communicate with hand gestures that Naomi was born that way.

Once, in public restroom another older woman reached down and tugged on Naomi’s elastic waistband from behind. “Too tight!” she chided me in broken English, but her stern face quickly softened to confusion as she found that Naomi’s pants weren’t tight enough to cause her belly to bulge after all.

“No,” I said firmly. “They’re not too tight. She was just born with a big belly.”

I cried on the way home from that outing, realizing my daughter would have to answer questions about her abdomen her whole life, wondering if she would be bullied, how she would view herself as she grew and how she would answer all the questions sure to come her way from curious children and nosy old ladies alike.

When Naomi was 4, a neighbor boy stopped me outside and asked, “Why does she look like she’s pregnant?”

“Because that’s how God made her,” I answered. “Why do some people have big noses or big ears? God likes variety.”

I was glad I’d been there to silence that child and quickly shift Naomi’s attention to something else, but a few weeks before she entered kindergarten, knowing I couldn’t shield her forever, I decided I needed to prepared Naomi for anyone who might ask her questions at school.

 “You know, Naomi,” I said, “that you have funny kidneys and some liver issues?”

“Yeah.” She nodded.

“Well, when you were in my tummy,” I continued, “we think your kidneys or liver were struggling a little, and you collected a lot of fluid in your abdomen called ascites.”

Naomi, who is mildly autistic, listened closely to what I was saying. She’d always been fascinated by details and had a great vocabulary, so I didn’t feel the need to talk down to her at all.

“We think that fluid stretched out your tummy muscles while they were forming. Your liver and spleen are also a little enlarged because of the scar tissue in your liver and your tummy looks a bit bigger than other kids’ tummies now. Did you ever notice that?”

“No,” Naomi replied, not seeming concerned but paying close attention.

“Well, it’s just a bit bigger,” I assured her, “and it’s just fine the way it is because God makes everybody differently, but someone at school might ask you why. So what would you tell them?”

“Well…” Naomi paused, thinking through the details of what I’d said. “I would tell them that when I was in my mommy’s belly I collected fluid in my abdomen called ascites, that it caused my abdominal muscles to be weak, and that my liver and spleen are enlarged because of the scar tissue in my liver, but that it’s OK ’cause God made me that way and he makes everyone different.”

I laughed a little and said, “Well, that’s the long answer, Naomi. I wanted you to know that, but you could just give them a short answer like, ‘That’s the way God made me’ if you want to.”

Naomi agreed, and the subject was laid to rest until she came home from her first day of kindergarten.

As we debriefed about her day she suddenly laughed and said, “You know, Mommy, someone did ask me why my belly was so big!”

My stomach turned a little, but Naomi was clearly impressed by my fortune-telling abilities, so I  smiled and laughed too.

“Oh really? And what did you tell them?” I asked nervously.

“It was a girl behind me in line to come in from recess,” Naomi explained, then she added confidently, “I gave her the long answer.”

I think my jaw dropped here, but then I had to chuckle thinking of Naomi confidently walking that poor girl through every detail of her medical history.

“And what did she say?” I asked again.

“Well, she just said, ‘Oh.’” Naomi smiled.

I looked at my baby girl then, confidently grinning back at me and realized she had within her all the gumption and grace it would take to make her way in a world of people ignorant about her condition. She had learned to be her own advocate, educating without being offended, self-assured in the midst of the gawkers, and I realized then she would be able to handle the curious kindergarteners and even the nosy old ladies just fine.

Smiling a little to myself, I actually began to look forward a little to the next time someone asked Naomi about her abdomen and the first time I could watch her give them lessons in abdominal cavity anatomy, respect for the differently-abled and maybe even tact.

Naomi's first day of school

The Mighty is asking its readers the following: Share with us the moment, if you’ve had it, where you knew everything was going to be OK. 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.


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.

DSCN7626

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.

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.


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.

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.


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.

Want to celebrate the human spirit? Like us on Facebook.

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

Real People. Real Stories.

8,000
CONTRIBUTORS
150 Million
READERS

We face disability, disease and mental illness together.