Getting Care for a Rare Disease When You Live in a Small Town

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I’m up before the sun, shaking sleepy children from their beds, “Come on guys, up you go! You can sleep in the car.” If I’ve been fortunate enough to find childcare that day, I’m only waking one or two kids. If my friends and family are busy, I’m loading all five of my kids into my van. I take inventory before we pull out of the driveway — five kids, coffee, baggies of cereal for breakfast, water bottles, diaper bag, lunch cooler, school work, activities and medical binders. Then we’re off on a three-and-a-half-hour drive to the children’s hospital in the city.

We will watch the sun rise as we drive, make our regular half-way stop at the truck stop that blasts country music, and I will coach my kids through that day’s school work from the front seat. We will brave the city’s rush-hour traffic, find a parking spot on the top level of the parking garage, and finally find our way through the halls of the children’s hospital to check my daughters in for what is often a routine 20 minute appointment with one of their specialists. Because when you have a rare disease, getting routine care often requires Herculean effort.

I’m raising two daughters with the rare genetic condition Bardet-Biedl Syndrome. We live in a small town in northern Indiana where I have yet to meet a single doctor who has heard of their condition before we walked in. It’s not the doctors’ fault. It is the reality of having a condition that only occurs in 1 of 100,000 people.

Our pediatrician has become familiar with my girls’ condition and well-practiced at writing referrals to specialists. The local ER doctors and urgent care staff are beginning to recognize us as well. But for the most part, we drive long hours to get proper medical care. My daughters need regular visits to the kidney doctor (nephrologist), liver doctor (gastroenterologist), hormone specialist (endocrinologist), and eye doctor (ophthalmologist). On occasion we need to see a heart doctor (cardiologist), a lung specialist (pulmonologist), and a neurosurgeon. All of these specialists are located in Indianapolis, a seven hour round-trip drive from our home.

My daughters see most of these specialists twice a year if everything is stable, but never on the same day. The nephrologist only sees patients in clinic on Tuesdays, the gastroenterologist only sees patients on Wednesdays, and the endocrinologist and ophthalmologist are in separate buildings outside the city. I’m afraid to schedule too much in one day anyway, since I may not have the energy to safely make the drive home.

The cost of staying in a hotel along with the challenges of my children’s special dietary needs means an overnight trip is more hassle than making the drive again on a separate day. When you add in emergency visits for urgent concerns and extra visits for outpatient tests and procedures, we make this long trek for proper medical care an average of once or twice per month. But sometimes extra problems come up, and in the last four weeks, we’ve made the trip four times.

The procedures with sedation are the hardest — the MRIs, the biopsies, the ERGs — because I am sometimes required to arrive as early at 5:30 am. I can either try to line up overnight care for my other children and stay at a hotel with a child who is unable to sleep because of the change in routine, or I can wake all my children up at 2:00 am and hope I don’t fall asleep driving when I’ve only had four hours of sleep.

Last week, when my daughter Emma needed an endoscopy with intestinal biopsies, my brother and sister-in-law were kind enough to drive in from out of town to stay with my other four children. I was relieved we had an 8:30 am check-in, which meant I didn’t have to leave home until 5:00 am. Once we were checked in to the outpatient surgery center and waiting for the doctor to see Emma, I stretched out on two hard chairs and fell soundly asleep. The doctor woke me up when she came in the room.

“Are you just stretching your back, or were you actually sleeping?” She asked with a little laugh.

I sat up and yawned, “I was totally out for a good 15 minutes.” I grinned.

“That is hilarious,” she smiled, then added, “Oh wow! You got your hair cut! I love it!”

We chatted like old friends for a few minutes. After seeing her every few months for the last eight years, in a way we are old friends. “You don’t have any questions about the procedure, do you?” she asked. “Probably not. You’ve been through this a few times before.” Indeed we have — with this doctor and all the others. After the procedure she popped in to tell me everything looked good and she expected the biopsies not to show any problems. Laughing she added, “It’s about time one of your kids had a normal tummy-ache!”

I smiled too, relieved one test had been clear.

I led Emma, still unsteady from her anesthesia, through the winding halls and to the parking garage where we loaded back into the van for the long drive home. My second cup of coffee barely carried me through the last hour of the drive. At home I collapsed on the couch, shaky from the stress of the day, but relieved.

One week later the doctor called me. “I have the results of Emma’s biopsies here,” she said, “and while it’s not too alarming, they indicate Emma may have celiac disease like her big sisters.” I sighed — my daughter didn’t have a normal tummy-ache after all. So we developed a plan.

More tests will follow. More early mornings. More shaky drives home. More extra trips to the children’s hospital because when your children have a rare disease you go the distance to find the specialized care they need. You go as far as they need, and you go as many times as it takes — early mornings, loud truck stops, shaky hands and all.

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When Someone Asks My Medically Complex Daughter What She Wants To Be When She Grows Up

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It happens when we’re standing in line at the grocery store and the sweet older gentleman behind us wants to make small talk. It happens when we’re raking leaves on a clean, clear fall day and a new neighbor stops by to meet us. It happens when we visit a different church, and when my daughter tries to make a new friend. Each time it happens, my heart sinks with nauseating dread.

“Hey there, sweetie,” they say. “What do you want to be when you grow up?”

This is apparently the universal getting to know you, small talk question for children. There’s nothing wrong with the question. I appreciate that people want to meet my daughter, and want to get to know what she enjoys and her dreams for her future. But the truth is not the cheerful chit-chat they are hoping for.

My daughter stops and quietly looks to me, then back to the questioner, then back to me. What should she say?

Alive. She wants to be alive when she grows up.

Her kidneys are failing, her liver may fail on her as well. She risks life-threatening internal bleeding at any time. She wants to be alive when she grows up.

She would like to have sight, but she knows that is too much to ask. Her retinas are dying slowly, one cell at a time. Her vision is growing fuzzier and closing in from the edges. She’s been learning Braille for two years in preparation. She would like to not be blind when she grows up.

She would like to have friendships, maybe even a boyfriend or husband someday, but relationships are a challenge for her. Her autistic mind often misses social cues. She doesn’t always understand or remember social norms. She sometimes talks too much about her interests and forgets to ask about the other person. It takes her longer than others to answer a question. She knows she might not have children, but she wants to have relationships. She wants to be surrounded by love when she grows up.

She is staring quietly at me now, pleading for help with her eyes. The check-out lane is moving, the new neighbor needs to get going, and the lady at the church wasn’t looking for her full medical history. So I smile and I repeat the line my daughter and I have chosen for this situation.

“Well, she likes to write. She’s thinking about being a writer.”

The inquirer smiles. It’s the nice answer they were looking for. It isn’t a lie, but it’s not really the truth. Not many people are prepared for the truth.

“It’s OK,” I tell my daughter when we are alone again. “They’re really asking what you love. They’re asking what you dream. There are so many things you love. Maybe someday, when you’re ready, you could tell them you’d love to work with horses – that you have a lot of dreams. If they take the time to listen, you could tell them that you will bravely go where life takes you, and that you will find joy there.”

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Before You Judge the Mom Buying Soda in the Grocery Store

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One day my daughter was with me while I was running errands. We made a quick stop at a grocery store and loaded a shopping cart down with packs of soda cans. After grabbing a few more groceries, we struggled to push the heavy cart to the checkout lanes. As we got up our speed and rolled past the deli meats, one lady stared at me disapprovingly. I knew what she was thinking. Assuming she could plainly see why my daughter is overweight, she shook her head and said, “Ugh! I can’t… I just can’t…” as she turned away from us. I wanted desperately to set her straight, but the cart was rolling with a lot of momentum now, and it wasn’t worth my effort to bring it to a stop just to tell this lady how wrong she was.

Tonight my house is quiet and my brain is active, so I thought I’d send out a public service announcement: if you see a child with weight issues in the grocery store with a mom whose cart is full of soda, please reserve judgment. You just might not know as much as you think you know.

The lady in the grocery store did not know my daughter has a rare genetic syndrome called Bardet-Biedl syndrome that causes obesity. She didn’t know my daughter’s hypothalamus does not correctly receive the satiety signal and that she lives every day of her life feeling hungry, even when she’s eaten enough. She didn’t know my daughter’s hypothalamus believes she is starving and tells her to seek and eat food with intensity, or that a starving hypothalamus will tell the body to decrease metabolism so my daughter only burns 75 percent of the calories a healthy child burns. This lady had no idea this genetic syndrome also causes fat cells to more rapidly store fat than in a healthy child.

The lady in the deli aisle didn’t know we’ve worked incredibly hard to control my daughter’s weight, including placing her on special diet, restricting her calories, and encouraging daily exercise and participation in sports. She didn’t realize my daughter’s endocrinologist had praised our efforts at our last appointment and declared my daughter was “the healthiest child with Bardet-Biedl syndrome” she’d ever heard of.

But you may be thinking, “surely drinking soda doesn’t help the problem.” And you would be correct. This is one reason my daughter hasn’t had a sip of soda in over six years, and why we strictly limit fruit juice to 3 ounces per day — just enough to help her absorb her daily iron supplement. So why did I have a cart loaded down with packs of soda cans? I’m a mobile home park manager. It’s my job to fill the soda machine every few months.

Please be careful to not judge, even when it seems you know the situation. You just might not know as much as you think you know.

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6 Things I Did to Help Find the Diagnosis for My Daughters' Rare Disorder

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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.

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I Feared Her Childhood Would Be Filled With Pain. She Proved Me Wrong.

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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.

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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.

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When a Little Girl Asked My Daughter Why Her Belly Is So Big

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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.

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