Doing My Part to Heal the Pain of Bardet-Biedl Syndrome

Written by Molly D’Angelo

I’m like most parents in that I never want to see my children hurting physically or emotionally. We would do anything to prevent their pain—put a bandage on a cut before giving it a kiss, bring them an ice cream sundae after they have an argument with a friend, or watch their favorite movie after they have a difficult day at school. I’ve been doing those things since my oldest son was born 18 years ago, and even though parenting was far from easy, I took solace in knowing that I could help my children and that the next day would be better. But when my youngest son Joshua began experiencing the symptoms of what we now know is Bardet-Biedl syndrome (BBS), I feared that I wouldn’t be able to protect him from the judgment and unkind behavior he experienced.

BBS is a rare genetic disease that brings a wide variety of symptoms. Its primary characteristics include visual impairment caused by retinal abnormalities, obesity, polydactyly (extra fingers and toes), kidney malformations, and learning disabilities. Many people with the disease also experience developmental delays, behavioral and neurological problems, hypertension, short stature, thyroid problems, and hyperphagia (insatiable hunger). Only about 3,000 people in North America have BBS. While there is no cure for BBS, children like Josh benefit from physical, occupational, and speech therapy to help mitigate some of their symptoms.

Like many people with BBS, Josh was born at a normal weight. At eight pounds and two ounces, my husband and I took Josh home with the confidence of parents who had dealt with newborns before. We had no hint that by his eight-week checkup, Josh would weigh more than 16 pounds and be three inches taller than he was at birth. He seemed uncomfortable all the time—he never wanted to be put down and needed to move constantly, or else he became very fussy. Despite his alarming growth rate, our pediatrician told us that Josh was simply colicky.

By the time Josh was 10 months old, he was more than 30 inches long and weighed more than  39 pounds. I was keeping detailed food logs to show his doctors, who were finally taking us seriously. He was referred to so many specialists that I had to create a spreadsheet to stay organized. After five years of visiting nutritionists, gastroenterologists, neurologists, endocrinologists, geneticists, ENTs and cardiologists, we were invited to participate in a research study of rare genetic diseases of obesity at a clinic in Wisconsin—more than eight hours from our home in Michigan.

After four days and 19 doctor’s appointments, we left the clinic without a confirmed diagnosis, but with new hope. The medical team there confirmed that Josh’s abnormal growth, weight gain, autism spectrum disorder, developmental delays, limited mobility, abnormal kidney structure, abnormal lipid levels, and sleep apnea were linked “without a doubt” to a genetic obesity disease and that Josh likely had BBS. This confirmed that I wasn’t imagining anything. Despite not having an official diagnosis for Josh, the experience was enlightening and took a huge weight off our shoulders. About three months after our clinic visit, we received a letter in the mail confirming that Josh had BBS. He was now officially part of a patient community. For someone who was considered a “medical mystery” for so long, having a group to belong to was a gift.

Having a name for this disease has been completely life-changing, but it hasn’t brought an ending to the challenges and complications he lives with. We work tirelessly to manage his symptoms and monitor his health. Josh is now 6 years old and receives support through speech, physical, occupational, and applied behavioral analysis therapy five days a week. We do our best to manage Josh’s hyperphagia by encouraging him to drink water and exercise throughout the day. We must continue bringing Josh to Wisconsin every two years for follow-up appointments, treatment overviews, and case evaluations.

It can be difficult for anyone living with a rare disease to share their experience publicly, but people can be especially mean and judgmental when they see kids like Josh. People often don’t know how to act around him or how to speak about him. There is such a stigma surrounding obesity—especially childhood obesity—but I hope that speaking our family’s truths will drown out the judgment and cruelty of others. Josh has overcome so much in life already and I want his strength and determination to be known. I hope that by sharing our family’s story, others learn that asking questions and taking the opportunity to learn about others is important and helpful! If I can change just one person’s mindset, then I’ve done my job as a mom and rare disease advocate.


 

 

Molly D’Angelo is a mother of three boys who lives outside of Detroit, Michigan. Her youngest son has lived with Bardet-Biedl syndrome (BBS) since birth. After his diagnosis at five years old, Molly began working as a full-time caregiver and advocate focused on building awareness of BBS with the hope of removing the stigma surrounding obesity. She hopes to make this rare disease well known.

Share this post

Share on facebook
Share on twitter
Share on linkedin
Share on pinterest
Share on print
Share on email