It was the summer of 2017 and 10-year-old twins Abbie and Lillie were playing together at the beach. When their mom, Shannon, checked on the girls, she noticed an oddly shaped rash – sort of like a butterfly – on Abbie's face. Thinking it was sunburn, she gave both girls hats and extra sunscreen. None of them suspected the real issue.
Over the next few months, Abbie experienced other odd, yet fleeting symptoms: her eyelids swelled and affected her vision; her fingers became puffy and painful; and she tired more easily. She began taking Tylenol before bed to ease the aches and pains. When she forgot, she'd wake up in the middle of the night – achy and in pain.
In September, Shannon mentioned Abbie's symptoms to friends who were doctors. Their advice? Call Rheumatology at Children's Hospital of Philadelphia (CHOP).
The family took Abbie to their pediatrician for a physical exam, specialist referral and formal review of her symptoms. The pediatrician also suspected a rheumatologic condition and ordered a blood panel to get more information.
Days later, the doctor called the family with preliminary results: it looked like systemic lupus erythematosus, also known as SLE or lupus. Additional testing would be needed to confirm the diagnosis. The pediatrician referred the family to CHOP's Division of Rheumatology.
Diagnosis and treatment
Soon after, Abbie's family met with CHOP Rheumatologist Melissa Lerman, MD, PhD, MSCE, who examined Abbie, reviewed tests and confirmed the diagnosis. At the same time, Dr. Lerman discovered Abbie’s immune system was specifically attacking her thyroid gland and diagnosed her with autoimmune thyroid disease.
Dr. Lerman took time explaining to Abbie and her parents how her conditions could affect her body and potentially her future. Lupus is characterized by inflammation of – and damage to – the organs, skin and joints. The most commonly affected organs are the kidneys, heart, lungs and brain. If left untreated, lupus can cause permanent damage. Autoimmune thyroid disease occurs when the body mistakenly creates antibodies to attack the thyroid gland, affecting energy levels, mood and weight. It is a relatively common side effect of lupus.
Dr. Lerman talked to Abbie in terms she could understand – and drew diagrams to help her "see" the effect lupus could have. "My white blood cells were attacking other parts of my body – like my skin – causing the rash, swelling and other symptoms," Abbie says.
Once Abbie and her family better understood her conditions, Dr. Lerman discussed treatment options with them. Because there is no cure for lupus, the goal of treatment is to control the inflammation and prevent organ damage. To do that, Dr. Lerman recommended a combination of medications including:
- Prednisone, a corticosteroid, that would help achieve rapid control of inflammation
- Other medications to help achieve and maintain control of Abbie’s lupus without the need to stay on steroids long term
- Hydroxychloroquine, a drug that can control symptoms in patients with lupus and rheumatoid arthritis
- Methotrexate, an immunosuppressant that limits division and migration of cells that are attacking the body’s organs
Dr. Lerman also connected Abbie's family with CHOP's Lupus Program, a dedicated, team-based subspecialty program that works closely with other specialists at CHOP to support medically fragile children with lupus and related disorders.
A multidisciplinary team from rheumatology, nephrology, endocrinology and ophthalmology regularly monitored Abbie's condition. Blood and urine tests were performed every few months, and her care was adapted as needed. Her core clinical team included Dr. Lerman, Christopher LaRosa, MD, from nephrology, and Bassil M. Kublaoui, MD, PhD, FAAP, from endocrinology.
Adapting to new challenges
After about six months of treatment, Abbie began experiencing distressing kidney symptoms. In June, she underwent at kidney biopsy at CHOP, revealing damage to her kidneys.
To control the swelling and permanent kidney damage, Abbie was hospitalized for a 3-day course of IV steroids. Afterwards, her immunosuppressant medication was switched to CellCept® (mycophenolic acid), a medication less commonly used to treat lupus but that carries a lower risk of organ damage.
By the end of the summer, Abbie was doing well enough to stop taking steroids completely. However, because of the extra stress her body had been under, a blood pressure drug was added to Abbie's medication regimen.
Making a difference in lupus research
Abbie admits fifth grade was a tough year – between being diagnosed with lupus and working with her clinical team to find the right medication combination for her. But her challenges also had a positive effect: it sparked Abbie and her family's interest in advocacy, research and philanthropy.
In the first years of Abbie's diagnosis, her family got involved with the Lupus Foundation of America, educated students and faculty at their school about lupus, and helped organize a lupus walk to raise money for lupus research.
Since then, Shannon has joined the board of the local chapter of the Lupus Foundation of America. The family has participated in several lupus walk/run fundraisers, and Shannon and Abbie attended a health summit on Capitol Hill – donning lupus capes – to rally for more government funding for lupus research and a possible cure.
"There's a real inequality in where federal research dollars are spent," Shannon says. "Women and minorities are harder hit by lupus but it doesn't get the same support as other diseases. We need more funding and awareness of this disease that can have devastating effects on people's lives."
Continued treatment and advocacy
Now in eighth grade, Abbie is doing well. Her lupus is controlled and she's happy to be back in school. After six months at home due to the COVID-19 pandemic, she was excited to see her classmates – even if they must still wear masks and remain physically distant from each other.
“"Lupus is a very serious disease that everyone needs to know about," Abbie says. "I was lucky I got diagnosed so quickly and got treatment – thanks to CHOP – but for some kids, it can take years to diagnose and get help."”
Abbie follows a strict drug regimen to keep her lupus symptoms at bay and has regular appointments with her primary healthcare team and specialists as needed. Now 14, Abbie looks forward to continuing her advocacy work and raising funds for research to find new treatments – and eventually a cure.