Finding Purpose in a Bardet-Biedl Syndrome Diagnosis

By Molly D'Angelo

I'd guess that every parent these days is aware of the phenomenon known as "mom shaming." Social media gives us unprecedented access to other families' daily lives. I've been a mom for 18 years and judgement over other moms' choices to breastfeed or formula feed, work or stay at home, and using child-oriented potty training or parent-led potty training, although I stay out of most discussions, the debates aren't new to me.

But when my son, Joshua began growing rapidly immediately after birth, my husband and I faced more judgement due to his size than we ever thought was possible. It took more than four years for Josh to be diagnosed with a rare condition called Bardet Biedl syndrome (BBS). My hope is that sharing his story reminds others to refrain from making judgments based on appearances. I want Josh to live in a kinder, more caring world.

Finding Purpose in a Bardet-Biedl Syndrome Diagnosis

A Mother's Instinct in the Face of Medical Placation

When I was pregnant with Josh, I had a feeling that something wasn't quite right. There was a flag on prenatal blood work testing, but with my doctor closely monitoring my pregnancy, my husband and I were encouraged that everything was progressing normally. Josh was born at an average weight of eight pounds and two ounces. That was the only time his size was considered "average."

By the time Josh was eight weeks old, he had grown more than three inches and gained eight pounds. He never wanted to be put down, liked constant movement and was always fussy. My husband and I brought our concerns up with our family's pediatrician. He told us that Josh just had colic and that he would grow out of it. I started keeping detailed food logs when Josh was ten months old. He was more than 30 inches long and weighed over 39 pounds at that point. Our concerns were finally being taken more seriously.

Diagnostic Odyssey Reveals the Truth of Bardet-Biedl Syndrome

It seemed like Josh's case baffled most of his doctors as they placed him into a "medical mystery" category. We saw endocrinologists, geneticists, nutritionists, gastroenterologists, ENTs, neurologists, cardiologists, and so many more specialists over the next five years. He underwent surgical procedures, and seemingly endless blood tests while we kept food logs and tracked his activity.

It was determined through testing and evaluation that Josh had abnormal growth and weight gain, autism spectrum disorder, developmental delays, limited mobility, abnormal kidney structure, abnormal lipid levels and sleep apnea. It was a relief when we were finally told that his condition was "without a doubt, a rare genetic obesity disorder" and there was nothing we could have done to cause his condition.

Still without an exact diagnosis, Josh was eventually invited to participate in a research study at a clinic in another state. Over the course of four days, we attended 19 appointments so that Josh could undergo lab work, testing, evaluations and consultations with specialists. The experience was enlightening and gave us hope and comfort. Our final appointment was with a leading BBS specialist in the United States. He informed us that Josh likely had the condition and explained so many things that we thought would remain mysteries. Our son was now part of a patient community, which meant the world to us.

An Explanation Doesn't Equal an Ending

While receiving a definitive diagnosis has been life-changing for our whole family, it hasn't meant that our journey has come to an end. BBS symptoms extend beyond obesity. The condition is characterized by retinal abnormalities that can cause vision impairments, polydactyly, kidney abnormalities, learning disabilities, hyperphagia which is an intense and hard-to-control hunger, and developmental delays among other symptoms.

There currently no approved treatments for BBS, so we focus on managing Josh's symptoms. We will travel to another state once every two years for follow-up appointments, treatment overviews and case evaluations. Josh is now six years old and receives support through speech, occupational, physical and applied behavioral analysis therapy five days a week.

While his hyperphagia seemed unmanageable when he was a baby, we are now able to manage it with distractions, movement therapy and by encouraging Josh to drink water throughout the day to help with his constant hunger. We were once told by a physical therapist that Josh may never walk. Not only has he learned to walk, but sometimes it feels like he never wants to stop walking and moving around! He has made a habit of surpassing the expectations that others have of him. I hope he never stops.

Working Towards New Attitudes About Kids with Disabilities

Before I became a parent, I never would have thought I could cope with raising a child with a rare disease, much less be an advocate. But in hindsight, it feels like everything I've experienced in life prepared me for being Josh's biggest champion. It isn't easy to share our family's story because the harsh reality is that people can be mean. However, I believe we have a responsibility to share our story so that we can connect with other families like ours and make sure that nobody in the BBS community feels alone.

It seems cliché but I hope that when people meet Josh, they are reminded that children who have special needs really are the same as those who don't. People often don't know how to act or respond to Josh—many of us have been taught not to look at others who look different—but I love when people say hello to him. I want others to ask questions and take the opportunity to learn about him. If our family's story can change people's attitudes towards those who are different, I will consider our mission accomplished.

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