RARE Daily

When Drugs that Treat Symptoms Can Be Life Changing

February 8, 2023

Screw Stupid Doctor Day may not be a well-known holiday, but on March 1 every year the Alms household celebrates it.

SSDD, as they call it, marks the day a perinatologist told Bonnie Alms that an ultrasound revealed abnormalities to kidneys of the child she was carrying. The doctor said based on what she was seeing, the child might not live more than 30 minutes. She told Bonnie since she was 20 weeks pregnant at the time that she was too far along to have an abortion in Minnesota but offered to send her to another state where she could still have one performed.

“We’ll hold our baby in our arms for 30 minutes then,” Bonnie told the doctor.

The baby, named Everett, will turn 17 in June. He has defied the doctor, although it would take the Alms family and their doctors five years to unravel a cluster of symptoms from which Everett suffered to get a diagnosis.

Everett’s story not only is a reminder that doctors can be wrong, but the impact new medicines can have on the quality of life for patients. Even when they fall short of curing a disease, they can be life changing for people with rare diseases and their families.

Everett was born with an extra finger on each hand and an extra toe on each foot. At 20 months he began to have seizures. He had malformations of the bronchial tubes of his lungs, which led to repeated infections that would cause a portion of his lungs to collapse. He suffered from a build-up in fluid in his ears that affected his hearing. And he had an intense cry that his parents would eventually realize had to do with constant hunger.

At age 5, Everett was diagnosed with Bardet-Biedl syndrome (BBS), a rare genetic disorder that can affect patients in very different ways and across symptoms throughout the body. People may suffer symptoms that include retinal degeneration, obesity, reduced kidney function, extra digits of the hands or feet, as well as many other manifestations. There are about 40 different genes that can cause BBS, which is considered a ciliopathy because it affects the function of the cilia of cells, hairlike structures that play a critical role in cellular communication.

Some of Everett’s symptoms improved with age as he grew. Others have worsened. He is going blind because of the condition. But it was hyperphagia, an intense and constant hunger that fueled an obsession with food, that had the biggest impact on Everett’s day-to-day life.

He always focused on food, stopped on the way to school for two or three bagels, asking others to buy it for him because he didn’t have money, or would pack a second lunch his parents didn’t know about. Everything he did related to food.

For Mardi Gras, the family would celebrate with a king cake, a traditional Mardi Gras treat made of sweet, buttery pastry. One year when they were heading to Everett’s great grandmother’s home to celebrate, he asked his mother what would happen if his great grandmother died. She was excited to see his mind turn to serious questions about life and in her excitement pulled the car over to have a heart-to-heart discussion with him about the circle of life knowing that with his great grandmother now 106-years-old, he would soon confront that eventuality.

After explaining about how it would be sad and reminding him of their cats that had died, and how we keep people alive through our hearts and our thoughts, he clarified his question. He wanted to know if his great grandmother died, who would make the king cake?

Life changed for Everett when he became the first patient dosed in a late-stage clinical trial of setmelanotide, a drug since approved and marketed by Rhythm Pharmaceuticals under the brand name Imcivree.

“I wouldn’t have the interests I have today if I was still thinking about food all the time,” Everett said, pointing to his obsession with Titanic (the ship not the movie, which he calls “terribly inaccurate”), Power Rangers, and Legos, which he would like to make friendlier for people who are visually impaired. Everett said if he had to choose between being blind or staying on the Imcivree, he said he’d rather be blind.

His mother said that as part of the clinical trial, the study investigators did a neuropsych evaluation of participants and found people on the drug had an increase in their IQ.

“The drug didn’t make them smarter,” said Bonnie, who is a clinical pharmacologist. “It made them able to think about things other than food for a few minutes, which is very telling.”

The drug has had an impact on Everett’s family as well. Before he used the medication, the family was constantly on guard and ready to battle what Bonnie called “the food monster.”

“It was a constant battle. I know other families battle with it. We’ve heard stories early on of other families putting a lock on the door of the fridge, or putting locks on cabinets or pantries,” said Everett’s father Will. “We knew since he was 5 that this was the condition. And the aha moment is yes, he’s always hungry. It always felt like we were on our toes.”

The Alms had been active in the BBS patient advocacy community. Will is a video producer and has made short videos for a patient advocacy group. They have raised money and done other work to support a patient registry, but they’ve taken a step back. They will be moving to Cape Cod to be near Everett, who will be starting a school for the blind in Boston. They are also exploring potential clinical studies for an experimental gene therapy for his form of retinitis pigmentosa.

With March 1 approaching, the Alms don’t yet know how they will celebrate Screw Stupid Doctor Day this year, but they said they will celebrate once again. What they do know is that the focus won’t be on food.


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