Bardet-Biedl Syndrome: When the Cost of Testing Becomes a Barrier to Diagnosis

According to a story from MSN, mother Vanessa Ruiz is facing a terrifying choice: feed her family or pay for the genetic testing to confirm that her children Faith and Erali have the rare disease Bardet-Biedl syndrome. A single test without coverage runs $15,000, and for two siblings to get tested and begin treatment would be at least twice that much. Vanessa has Medicaid, but the program usually doesn’t cover out-of-state care, even when it’s critical.

About Bardet-Biedl Syndrome (BBS)

Bardet-Biedl syndrome is a genetic disorder that presents a variety of symptoms throughout the body but is probably most characterized by obesity. The illness is caused by mutations affecting the BBS genes. The disease may vary in symptoms and progression depending on which mutation is present. Symptoms of Bardet-Biedl syndrome include obesity, polydactyly, kidney failure, retinitis pigmentosa, reduced or absent sense of smell, overeating, heart problems, fibrosis, hypogonadism, ataxia, cognitive impairment, diabetes, and developmental delays. There is no cure for Bardet-Biedl syndrome, and care is focused on treating the numerous and varied symptoms. Often an entire team of specialists and therapists may be necessary to manage different symptoms effectively. Approaches may include diet and lifestyle changes, surgery, and a kidney transplant in cases of kidney failure. To learn more about Bardet-Biedl syndrome, click here.

“If you go and take your rent money and you go pay a doctor’s bill, you’re going to be homeless, you’re not going to have a place to live…You go buy the medicine that your doctor gave you, that’s your light bill right there. People shouldn’t have to live in fear like that.” – Vanessa

The only specialist in the nation is over 1,000 miles from Myrtle Beach, SC where the family resides. The situation highlights the cruelty of the dysfunctional US health system that locks out millions from getting the care they need to due extreme costs.

Since the system is failing them, Vanessa has turned to GoFundMe to raise money and a charity organization has offered to pay for Faith’s flight. The family also hopes to organize an additional fundraiser, but options are few and even the upfront costs of organizing it may be too much.

“I’m just ready to throw in the towel and give up, but I don’t want to because those are my kids. It’s taken a really big toll on me.” – Vanessa

To support testing and treatment for Faith and Erali, click here.

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