Emma and Naomi’s Journeys with Bardet Biedl Syndrome

Special thanks to Kathy Eby for sharing her daughters’ journeys and for co-authoring this post. Read her article on “Why Every Human Being Stands to Benefit from Rare Disease Research” at The Mighty.

FDNA highlights eye disorders in June for the Year of Discovery. We are uniting healthcare, advocacy and technology for rare disease advancements. Every case uploaded in June will be matched with a $1 donation sponsored by Prevention Genetics, benefiting the Bardet Biedl Syndrome Foundation.* Every time a patient’s case is analyzed by Face2Gene, the de-identified information will train the system to recognize new associations between phenotypes, facial characteristics and genes. This information will improve our understanding of rare diseases and directly impact the lives of patients and families for years to come.

About Bardet Biedl Syndrome

Bardet Biedl Syndrome is a rare genetic syndrome that affects the function of cilia, which are tiny antennae-like structures on almost every cell in the body. The defect in the BBS protein causes different kinds of cells to malfunction in different ways throughout the body. BBS often causes extra fingers and toes to form when babies are developing. It usually leads to obesity and eventual vision loss. In addition, many other body systems can be affected. Some patients with BBS have kidney disease, liver disease, endocrine disorders, asthma, chronic ear infections, cognitive impairment, autism spectrum disorder or other mental health disorders and various developmental delays.

Emma and Naomi

Emma and Naomi are two sisters with much in common. They love animals, especially horses and their five pets at home. Both girls play soccer with a local league, enjoy drawing and ride horses at a therapeutic riding stable. Emma and Naomi are both gifted students and excel at visual memory tasks. They have also both been diagnosed with Bardet Biedl Syndrome, which among many other symptoms, will eventually cause blindness. Emma is 9 years old. Naomi is 13. They are both studying braille to prepare for that sure future as their vision declines.

“Both girls have lost some of their night vision and peripheral vision as their retinas are slowly dying, and they will likely be legally blind in about a decade,” said their mother, Kathy.

Having two children with Bardet Biedl Syndrome presents challenges for the family around daily management, treatment, and future planning. For Naomi and Emma, being rare, especially at an age when everyone is trying to fit in, presents other challenges.

“Social interaction with peers who don’t understand their neurological and physical differences is probably the biggest challenge for both girls. It’s hard to explain to other kids that my girls would make fantastic friends if they would just be patient with their differences. Both girls also have challenges with participation in sports because of difficulties with balance and coordination. The girls have had to learn to accept lives full of doctors appointments, therapies, and a lot of uncertainty about their futures,” Kathy said.

For this family and other families battling rare conditions, a diagnosis helps prepare them to face these challenges. Naomi wasn’t diagnosed until the age of 10, and Emma was 6. For many rare syndromes, early diagnosis can dramatically improve quality of life. Early diagnosis can sometimes save lives. There is no cure yet for Bardet Biedl Syndrome, but there is hope.

Emma and Naomi’s Diagnostic Journey

Kathy and her husband went to the 20-week ultrasound of their first child hoping to find out if they would be welcoming a baby girl or baby boy into the world. They were told that they were having a little girl but the doctors were concerned about her kidneys.

“We left there knowing that our baby girl had kidneys that were too bright on the ultrasound. That began a years-long process to find the correct diagnosis,” Kathy said.

Sometime after Naomi was born, she was diagnosed with a genetic syndrome that causes kidney and liver disease. Emma was born 3 years later and presented similar symptoms. As the girls grew, they were diagnosed with a number of conditions that didn’t exactly fit: global developmental delays, speech disorders, autism, endocrine disorders, and obesity. When Naomi was 4 and Emma was 1, they were enrolled in a clinical study. The study confirmed that the earlier diagnoses were incorrect but the correct diagnoses could not be determined. Kathy knew that a diagnosis might help them to predict and prepare for (or even prevent) further symptoms so she persisted.

“I spent hours, months, and years researching rare diseases that included my girls’ symptoms,” Kathy said. “I learned to read medical literature and reach out to support groups and researchers online. I compiled a long list of possible diagnoses and then began researching each of them in depth until I had pinpointed BBS as the most likely diagnosis.”

Kathy approached one clinician with the information she had collected but he pointed out that the girls were missing certain features associated with Bardet Biedl Syndrome. They were not overweight, did not have extra fingers or toes, and were not cognitively impaired. Kathy knew that she had worked to make sure the girls were not overweight and knew that these features were not always present in patients with Bardet Biedl Syndrome or accurately described. Seeking help and answers, she searched for an advocacy group online.

“Desperate to get my girls the genetic diagnosis they needed, I found a BBSFA Facebook group online and asked them for help. One of their members put me in touch with researchers at the University of Iowa who agreed to test my girls for free. Naomi and Emma were confirmed to have the most classic BBS mutation (BBS1) two months later,” Kathy said.

After 10 years, the family had the answers they had been searching for.

Managing Bardet Biedl Syndrome

“Having a correct diagnosis makes a huge impact on the way we view the girls’ differences, manage their conditions, and prepare for their futures,” Kathy said. “I finally understand why Naomi struggles so much with overeating (her hypothalamus cannot receive the satiety signal and believes she is starving), and I now have a support group around me to advise me on how to deal with this. I understand now that Emma is not simply clumsy, but that she runs into things in her peripheral vision because she has blind spots in her peripheral vision, and I have a group of people around me who can help me line up the low-vision resources Emma needs.”

Symptoms and features associated with Bardet Biedl Syndrome can vary greatly. Emma and Naomi both have polycystic kidney disease, liver fibrosis, endocrine disorders, developmental delays, and vision that is slowly failing. Even though the girls are siblings with the same genetic mutation, BBS has affected them differently. Naomi has stage 3B chronic kidney disease and will need a kidney transplant in the next few years, while Emma’s kidney disease is milder.

Naomi also has autism spectrum disorder and is prone to autistic meltdowns, while Emma has generally slowed brain waves (encephalopathy) which gives her a quiet, thoughtful personality. Emma has severe speech apraxia, which required years of intensive speech therapy to teach her to speak, while Naomi struggled with stuttering and understanding the give-and-take of conversations. Naomi has more of a tendency toward obesity than Emma does.

“Instead of being constantly surprised by new health challenges that seem to hit us out of the blue, we now know what conditions to be watching for. The girls can receive yearly screenings for lipid abnormalities and type 2 diabetes which are common in BBS so that we can catch these issues early if they develop. We have also begun teaching the girls braille, introducing them to vision-impaired friends, and taking them to see a bucket list of sights as we prepare them for vision loss,” Kathy said.

Ending the Diagnostic Odyssey for Children with BBS and Other Rare Diseases

“The idea that BBS might one day be more quickly diagnosed through something as simple as a facial-recognition app actually brings tears to my eyes,” Kathy said. “Our journey to diagnosis was long and painful. My girls suffered for years being misunderstood, subjected to unnecessary invasive diagnostic tests, and under-treated for unrecognized symptoms of BBS. Early diagnosis of BBS means that patients can receive the proper testing, treatment, preventative care, and therapies that they need; and parents can receive the support and help of the BBS community from an early age.

“Children (and their parents) battling rare diseases are some of the most determined, strong, and inspiring human beings on this earth. They have enough to battle with their genetic condition. It would be amazing if they no longer had to also face the fear of not knowing the name of that condition or what the future might hold for their child. Diagnosis names the giant they are facing. It shows the giant’s face so that families can take their best resources to the fight.

“Raising a child with a rare disease is a challenging, often exhausting and heart-wrenching path. It’s right to grieve the losses and the sorrows, but after you’ve had a good cry, don’t forget to wipe your tears and look up to see all the beauty and joy your child brings to you and the world around them. Wipe your tears and fight. Keep researching, keep asking questions, keep pushing for answers, and networking with anyone who can help connect you to resources. Once you have a diagnosis for your child, join a support group (or form one) and push to raise awareness and bolster resources for those whose children will come behind. The future of rare disease patients is brighter now than ever because of the parents, researchers, and innovators who refuse to give up the fight.”

Advancements for Patients with Bardet Biedl Syndrome

Families and Patients: Ask your doctor to add your or your child’s case to Face2Gene. The personal information will only be accessible to your doctor but the de-identified data may help others who are battling a rare disease. Click here for more information.

Healthcare Professionals: Do you have cases to upload that can help Face2Gene recognize eye disorders and accelerate advancements? Upload them through the app or at Face2Gene.com.

About the Bardet Biedl Syndrome Foundation

The Bardet Biedl Syndrome Foundation is a nonprofit association dedicated to improving the lives of individuals and families affected by BBS. The mission is to provide a support community for individuals and families; information about BBS; and promote science and research to improve the lives of individuals with BBS. They established the Bardet Biedl Syndrome Family Association and work in conjunction with the Center of Excellence for Treatment of BBS at the Marshfield Clinic and with CRIBBS, the Clinical Registry Investigating Bardet Biedl Syndrome. BBSF provides a family conference every other year to bring research information to families living with Bardet Biedl Syndrome and to provide practical advice and family connections for those raising children with BBS. Visit http://www.bardetbiedl.org/ for more information.

About PreventionGenetics

PreventionGenetics is a clinical DNA testing laboratory that provides patients with sequencing and deletion/duplication tests for nearly all clinically relevant genes, including whole exome sequencing. Prevention Genetics expands and updates its test menu, introduces new technologies, and increases efficiency to keep high-quality genetic testing attainable at a reasonable cost. Learn more at https://www.preventiongenetics.com/.

Face2Gene CLINIC is a free, HIPAA-compliant search & reference tool for healthcare professionals. Face2Gene is provided for informational purposes and not intended to replace the clinician’s judgment or experience, nor should it be used to diagnose or treat medical conditions.

*All donations are provided directly by the participating sponsor in such month and at its sole responsibility. Amounts may be capped to a maximum in each month, at the participating sponsor’s sole discretion.