Bardet-Biedl Syndrome

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Mighty Partners

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@mighty-partners

April 18, 2022

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Learn more about Bardet-Biedl syndrome

Join us for a virtual educational program hosted by Rhythm Pharmaceuticals about Bardet-Biedl syndrome (BBS), a rare genetic disease of obesity. BBS has a wide range of signs, including extra fingers or toes (polydactyly), visual impairment, early-onset obesity, and intense, hard-to-control hunger. This event will feature expert doctors who have experience treating individuals living with BBS, and we'll hear the personal experiences of people impacted by BBS. This information is intended for US residents only.

Click here to learn more and register: bit.ly/3L7vzmI

Sponsored by Rhythm Pharmaceuticals

#RareDisease #BardetBiedlSyndrome

Story

Girl watching the stars. Stars are digital illustration.

Girl watching the stars. Stars are digital illustration.

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Bardet-Biedl Syndrome

May 3, 2021

Remembering the Stars in My Life With a Progressive Rare Disease

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 [...]

Story

When My Daughter With Vision Loss Had a Chance to Say Goodbye to the Stars

When My Daughter With Vision Loss Had a Chance to Say Goodbye to the Stars

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Retinitis Pigmentosa

July 30, 2019

When My Daughter With Vision Loss Had a Chance to Say Goodbye to the Stars

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 [...]

Story

the author's son in a pool

the author and her son smiling

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Bardet-Biedl Syndrome

June 22, 2018

Why Our 'Rare' Family Took the Road Less Traveled

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 [...]

Story

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

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

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Bardet-Biedl Syndrome

April 19, 2017

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 [...]

Story

Katherine Erby's daughter on the beach.

Katherine Erby's daughter on the beach.

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Bardet-Biedl Syndrome

February 18, 2017

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

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 [...]

Story

Macro view of color drink tin cans with cola soda beverage with selective focus effect

Macro view of color drink tin cans with cola soda beverage with selective focus effect

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Bardet-Biedl Syndrome

July 25, 2016

Before You Judge the Mom Buying Soda in the Grocery Store

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 [...]

Story

five children smiling and hugging outside

five children smiling and hugging outside

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Bardet-Biedl Syndrome

July 30, 2015

6 Things 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 [...]

Story

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

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

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Bardet-Biedl Syndrome

July 6, 2015

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 [...]

Story

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

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

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Bardet-Biedl Syndrome

May 15, 2015

When a Little Girl Asked My Daughter Why Her Belly Is So 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 [...]