Bardet-Biedl Syndrome

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    Katherine Eby

    Choosing Gratitude in My Life With Bardet-Biedl Syndrome

    by Naomi Eby Several years ago, I was diagnosed with a rare genetic disorder. It explained health issues I was experiencing, such as difficulty controlling my weight. It also made my family and me aware of other problems I might encounter later, including how my vision will decline, perhaps before I become an adult. If a cure to the degeneration is not found beforehand, eventually I will become blind. So far, I have been blessed, and the deterioration has been slow, but at this point, I have lost some central vision in my left eye and most of my night vision in both. These beginning stages of vision loss have made me realize how much of life many people take for granted, and how I need to do a double-take on the discontentment in my own life. The first time I had to come to terms with losing my vision was six or seven years ago, in a dark parking lot after a nighttime event. My mom, being the nature lover that she is, glanced up at the sky and saw that it was clear that night. “There’s Orion!” she exclaimed after a moment of admiring the beauty up above us. Oddly enough, I had trouble finding it. “Where?” I asked, confused. We had admired the constellation at length before, and it was not up there. “It’s right there,” she insisted, waxing eloquent about the black above. I had begun to lose my night vision, but it had gone so slowly that we had not noticed. I had always seen the stars, but gradually, they had disappeared one by one from my sky. I realized then that, while I knew I would lose my vision, I had taken seeing things, really such a wonder of life, for granted. Now, I intended to treasure every moment. Though I was brave, until four years ago in 2017, I had difficulty dealing with the pain the knowledge of my loss caused. That summer, we went on vacation in Colorado with my mom’s side of the family, renting a cabin in the mountains. While the aim was just enjoying each other’s company, we all wanted to see how many stars I could see without light pollution. We tried after dusk, when everyone testified to our view, and I saw more stars than usual. I was pleased, though a bit jealous of everyone else. Then my mom and I went out at 3:00 a.m., and there were even more, but I was still disappointed. However, I was grateful to even get that view, and from then on, I began to try to be thankful for what I had in life, instead of dwelling on what I did not. Then, two years ago in 2019, we all went on vacation again. This time, we rented a cabin on a private lake in Wisconsin. One night, just after dusk, we all went out to see fireflies. Someone looked up, and soon we were all awed by the amazing sky we got to see. I say we because, incredibly, I was able to see most of it too, including with a little guidance, Cassiopeia, the Big Dipper, the Little Dipper, and even part of the Milky Way! I did not want to leave, even after everyone else went inside, so my mom and I sat outside for 20 minutes, me tearing up every time I caught sight of another dim pinprick. I was incredibly blessed to have those minutes, and now, every time I find myself wishing for something I do not have, I remind myself how I did get something I should not have had, and it was amazing. I still experience challenges arising from my condition, and, if treatments are not discovered, I will the rest of my life. However, if I could do life over again, I would not choose to have never had this disorder, because it has provided a unique and valuable perspective on life. It has made me see how everything people take for granted can be a blessing and a miracle, and it should be thought of as such. It has also taught me that even though I, like everyone else, have my struggles, I still have things to be thankful for. Finally, it has helped me learn not to be discontent with life, because there are so many unexpected blessings one does get. Just because one is born with a genetic condition does not mean one will be miserable, if only one can remember the stars and not the doctor’s visits.

    Katherine Eby

    Parenting a Child With Bardet-Biedl Syndrome: Vision Loss

    One dark night about six years ago, when my daughter Naomi was 9, I remarked that the Big Dipper was really bright. Naomi had squinted and blinked up at the darkness, wrinkled up her nose a little, shook her head and said, “I can’t see it.” I remember standing behind her and pointing it out while she insisted that she had no idea what I was pointing at. We were both really confused then. Naomi hadn’t had trouble making out the Big Dipper just a few months before. A few weeks later, my whole family left my in-laws’ house on a dark night, and we all remarked at the clarity and beauty of the stars. Naomi stood again squinting at the sky for a few moments before she finally realized what was happening. Wiping tears from her eyes she said, “I just can’t see them anymore. It’s been like that for a few months now. I just can’t see them at all.” Within a few months Naomi was diagnosed with Bardet-Biedl syndrome, which includes a condition called retinitis pigmentosa. In other words, her retinas were dying, and she was slowly losing her vision. Subtle changes in night vision are often the first signs of this disorder. Over the last six years, Naomi’s vision has slowly declined. Two years ago we planned a family vacation to a secluded cabin in the mountains of Colorado. I had hoped that at a higher elevation, out in the country Naomi would be able to see some stars again. But even at 3:00 a.m. after the moon set, in a relatively dark valley, at a high elevation Naomi had only been able to make out a few stars. It was a small victory that felt more like a major disappointment to both of us at the time. But something amazing and totally unexpected happened on our vacation to far northern Wisconsin this summer. Late one night, my youngest son was pestering me to let him go out into the driveway of our rented lake house and shoot off some glowing rocket helicopters. I finally gave in, but when I opened the front door I found the most profound darkness I have ever seen outside. We were on two square miles of private, dense north woods, and there was not a single light visible outside. The moon was not even up. With the first few steps, as my eyes adjusted, it was thick, black, locked-in-the-basement-and-can’t-find-the-light-switch kind of darkness. But after we cautiously found our way off the porch and into the driveway, I realized we had accidentally stumbled into something amazing—the most spectacular view of the stars I had ever seen. I rushed inside and swept Naomi out the door. She was a little skeptical as I guided her out into the darkness. Naomi squinted and strained at first, then she halfheartedly pointed out the brightest “star” Jupiter. “OK, I can see that one,” she said. But a few seconds later she could see a few more. After about three minutes she started to get excited. She said she definitely saw more stars than ever here. I led her farther down the driveway, away from any light sneaking out the windows of the house, and turned her towards the brightest Big Dipper I had ever seen. Standing behind her I took her right arm and pointed her finger toward each star in the Big Dipper. She saw it! Every single star in it. I fought a lump in my throat, remembering that night six years ago when we first realized she couldn’t see it anymore. I turned her toward Cassiopeia and pointed at those stars. She squinted and strained and then said, “Oh yeah. There it is. One, two, three…four…that one is really dim, but I see it, … and five. I see them all!” The rest of the family came out then, all exclaiming at the beauty. My brother helped point out the Little Dipper to Naomi, which was significantly dimmer than the others, but she managed to see that one too. Long after the other family members went back inside Naomi stood under those stars, straining her neck up at the sky, wiping a few happy tears out of her eyes. I finally brought out a wicker loveseat for us, sweatshirts, and some bug spray. We sat together for a long time then, and I just listened to Naomi. The longer she sat out there the more she saw. Her eyes continued to adjust and take in more. She said it was an interesting way for her to test which spots in her retina were still functioning well because stars would appear and disappear as she shifted her gaze around. She figured out that she could see the most stars out of a few spots in the peripheral vision in her left eye. She couldn’t focus on them perfectly or they would disappear. I told her that’s because the rods in the retina are responsible for both peripheral and night vision. She apparently still has a few spots of relatively healthy rods in her left eye and that is what she was using to see the stars, even though the cones (responsible for central and focused vision) in that eye are pretty bad. By the end of our hour and a half outside, she could see the Milky Way, some airplanes, a few satellites, and what she guessed was about 500 stars. She pointed out some of the dimmest stars she could see, and if she could see those, I’m sure she could see at least 500 others. It was intensely dark, quiet and beautiful there, sitting beside each other in the wicker loveseat in the middle of the gravel driveway, surrounded by the tall dark pines, with just an occasional call from the frogs in the lake to break the silence, and a sky above us that was finally, finally full of stars, even for Naomi. It was hard to come inside again, both of us knowing that Naomi will likely never see stars like that again in this life. I didn’t even mention going inside, just sat beside her and waited. Finally, just before midnight, she said, “OK, I think I’m ready to go in now.” It felt profound. No one took the stars from Naomi last night. She saw her fill, and then she chose to leave them. She left when she was good and ready. It was closure. The chance to say goodbye that she never had before. For so many losses in life, that is what makes all the difference.

    Maxie McGlohon

    Why Our Family Took the Road Less Traveled After My Son's Diagnosis

    Myrtle Beach, South Carolina and the Embassy Suites at Kingston Plantation will always hold bittersweet memories for our family. Even before we were married, my husband and I would attend medical and dental meetings at the beautiful oceanfront oasis, enjoying romantic candlelight dinners and soaking up every precious second of our time away from the purse strings of life. After marriage, we introduced our beautiful baby boy, David, to our seaside retreat. He attended every meeting, quickly showing his affinity for the sand between his toes. It was just after his fourth birthday that our world would be forever changed. It was a beautiful bright sunny day in mid-May. We were packing our bags to attend the annual North Carolina Dental Society Meeting in Myrtle Beach, just as we had done every year. We received a call from the geneticist at Duke stating that our son’s test results were finally back, and she wanted to set up an appointment in a few weeks to go over the results. Of course, no parent wants to wait weeks to hear the results of such important test results, so we told her we were on the way. Our minds racing with angst and anticipation as we jumped in the car and rushed to Duke. I have dealt with a lot of devastating news and events in my life, such as the loss of both of my parents, but nothing will ever compare to the heartache we felt that day. We were told our precious 4-year-old son had a rare genetic syndrome called Bardet-Biedl syndrome (BBS). This syndrome affects about one in 150,000 people in the world. The geneticist said he would most likely be blind by the time he was a teenager, and may end up needing a kidney transplant. She offered very little hope and sent us on our way. Feeling like we were blindsided by a freight train, and barely able to see through our tears, we decided to continue on to our conference at Myrtle Beach. I probably slept an hour that first night. When I awoke, I remember asking my husband if it had all been just a horrible dream.We took David down to the baby pool that day, letting him splash and play, while our minds rambled with frantic questions about his future. Would he be blind one day? Would he succumb to kidney failure? Would he be able to play like other children? Would he ever even be able to do something as simple as independently sliding down that big water slide at the splash park? Would he be able to attend college? The list was endless. As we watched him in that baby pool, we were overcome with grief. Eight years later, we are back at Kingston Plantation at our yearly dental conference. As I sat watching David these past few days, I am in awe of how far that this awesome little boy has progressed since that day at the baby pool. If you were watching him by the splash park, you would most likely think he was just like any other kid, enjoying life. He was skipping, splashing and sliding independently down the waterslides without a care in the world. Getting to this point has been no small feat. You see, children with BBS and autism do not get to take the “easy road” in life. Almost everything is a challenge for them. Whether it be writing their name, going to the bathroom, or even siding down a waterslide. David’s progress is due largely in part to our village of great teachers, teacher’s assistants, speech therapists, occupational therapists, applied behavioral analysis (ABA) therapists, and caring sitters who all have played such important roles in his life. We have also reflected on how far we have come as parents since the day of his grim diagnosis eight years ago. Back then we were alone and depressed, with basically no hope for David’s future. But through research, we found the Marshfield Clinic and the BBS Center of Excellence in Wisconsin. There we received the guidance and professional care and support we desperately needed. Now I am traveling to Washington DC as a rare disease advocate, speaking with our politicians on behalf of rare disease patients. I am attending rare disease conferences and lobbying for David and others who do not have a voice. My husband and I are moderating a telephone support group for BBS parents that reaches people on every continent. These are huge accomplishments for two people who were knocked down with grief eight years ago. David’s road and our road with him will continue to be the road less traveled. We will continue to celebrate his victories — however big or small — along the way. We will continue to live every day with hope for his future. In the words of Robert Frost, “Two roads diverged in a wood and I — I took the one less traveled by, and that has made all the difference.” Follow this journey on Facebook Twitter or Hanging 11 With David

    Katherine Eby

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

    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. We want to hear your story. Become a Mighty contributor here .

    Katherine Eby

    Planning the Future for Medically Complex Children

    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.”

    Katherine Eby

    Bardet-Biedl Syndrome: When Strangers Judge Overweight Children

    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.

    Katherine Eby

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

    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. 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 community@themighty.com 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.

    Katherine Eby

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

    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. 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. 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 .

    Katherine Eby

    Child With a Genetic Condition Gets Asked Why Belly Is Big

    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. 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 community@themighty.com. Please include a photo for the piece, a photo of yourself and 1-2 sentence bio.

    Katherine Eby

    Why I No Longer Fear My Children's Bardet-Biedl Syndrome

    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. 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. 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 community@themighty.com. 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 .