After spending 19 months desperately seeking a diagnosis for her infant son Brody, Lisa Moreno-Dickinson knew she couldn’t stop there. She also needed to help others in the same situation.
“When Brody was born, everything seemed normal,” recalls Ms. Moreno-Dickinson. “Now I realize he was in pain from day one.”
A baby’s scary symptoms
At Brody’s one-month checkup, Ms. Moreno-Dickinson began to take note of his symptoms. “He had fevers of 105 degrees or more but no symptoms of a cold virus, extreme night sweats and a rash like a bad sunburn. His voice was hoarse. He was sensitive to cold temperatures. His stomach would become painfully distended. With just one of these, I would’ve been OK,” she says.
“But all of them together raised red flags for me. As time passed, it was clear that he was in so much pain that I held him every minute. He only slept about 30 minutes a day. He would just scream in pain.”
Searching for answers
She took Brody to pediatricians and hospitals in Pennsylvania, West Virginia and Maryland. “Most thought it was reflux, or we were told to wait until more symptoms appeared. He had genetic tests, but they didn’t give us any solutions. Some doctors told me they had never seen anything like it before,” she says.
One hospital discovered granulomas, small nodules throughout his abdomen and organs. Genetic testing confirmed the biopsies and still another test found silica in the granulomas, meaning Brody has a higher risk of developing lymphoma.
Looking outside the box
Still, Ms. Moreno-Dickinson was left with more questions than answers. “I was looking for someone who could think outside the box and give us some answers. I was doing Internet searches for his symptoms and to find physicians who might be able to help.”
That’s how she found Steven Spalding, MD, Head of the Center for Pediatric Rheumatology at Cleveland Clinic. Ms. Moreno-Dickinson says, “With the way Brody looked, his symptoms, medical history and test results, Dr. Spalding immediately diagnosed him with Blau syndrome and started treatment.”
What is Blau syndrome?
Blau syndrome is a rare genetic inflammatory disorder that primarily affects the skin, joints and eyes. The gene mutations that cause Blau syndrome trigger an abnormal inflammatory reaction. Signs and symptoms usually begin before age 4.
The earliest sign of Blau syndrome is typically a skin inflammation which causes a persistent scaly rash on the torso, arms and legs. Those with Blau syndrome also have arthritis and painful swelling of joints, leading to decreased range of motion. The syndrome also can cause swelling and inflammation of the middle layer of the eye, which can lead to severe vision impairment or blindness.
Although less common, Blau syndrome can affect other parts of the body as well, including the liver, kidneys, brain, blood vessels, lungs and heart. Inflammation involving these organs and tissues can cause life-threatening complications.
Brody, who has A-typical Blau syndrome with organ involvement, started on an adult dose of a drug used off-label. It was about three weeks until his mother really noticed a difference, but it was significant.
“The swelling in his tummy, sides and arms, his fevers and rash are greatly reduced,” says Ms. Moreno-Dickinson. “His energy level is much higher. MRIs have shown the granulomas have gotten smaller.”
“But I really knew it was helping when Brody began telling me when it was time for his daily injection. He would clap happily when his medication was delivered to the house.”
Needing to do more
“Now that we had answers and Brody was responding to treatment, I began to think about going back to work,” says Ms. Moreno-Dickinson. “But one day I looked at him and thought, I spent 19 months searching for answers and a diagnosis. Now he’s not even 2 years old, taking adult doses of an off-label medication.
“I realized I couldn’t stop there. I needed to keep working to help Brody get better and help all children with autoinflammatory diseases get better.”
Knowing now what she wanted to do, Ms. Moreno-Dickinson asked Dr. Spalding why there wasn’t a foundation for childhood autoinflammatory diseases (CAID) — and then asked about creating one.
“That’s how StopCAIDNow was born,” she says. “I had never done anything like this before. I coined the term CAID to help all children and focus on the mechanism of the disease rather than just one specific autoinflammatory disease. I knew one of its main goals needed to be education for physicians. How can they help kids if they don’t know about it?”
Today, StopCAIDNow has an international presence, website a medical board, advisory board, and unique approaches to fundraising.
A strong foundation
StopCAIDNow recently made a large donation to Cleveland Clinic Children’s Hospital to fund continuing medical education for physicians. Children’s Hospital is also working to fund and create the first national evaluation clinic for children with CAID and those yet to be diagnosed.
“My five-year goal for StopCAIDNow was to find a home at Cleveland Clinic where children would be treated by knowledgeable and educated physicians,” says Ms. Moreno-Dickinson. “Brody’s only 3 and it’s happening now, but the progress still isn’t fast enough for me. I want a cure. I want all of these children out of pain.”