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After experimental treatment, 24-year-old is learning how to live

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Sarah Hughes was diagnosed with systemic juvenile idiopathic arthritis at 11 months old

It is a debilitating autoimmune disease that affects multiple organs and systems in the body

Stem cell therapy has helped Sarah's body to heal after years of damage

CNN —  

For 23 years, Sarah Hughes battled with her own body just to live.

As a child, her struggle was hidden behind a beaming smile; her main source of joy was riding her pony. And it was a brave smile, the same one that greeted doctor after doctor, even in the face of constant pain that Hughes lived with since she was a baby.

Sarah was diagnosed with systemic juvenile idiopathic arthritis when she was 11 months old, her mother, Fiona, said. It’s a debilitating autoimmune disease that affects multiple organs and systems in the body and impacts 30,000 children in the United States, according to Dr. Jeremy Szeto, a member of Hughes’ medical team.

Hughes’ aunt – her mother’s twin, Sarah Jane – passed away at 37 after her own struggle with juvenile arthritis. It was days before Sarah’s seventh birthday. After losing her beloved aunt, it was years before Sarah wanted to celebrate the day.

It also reminded the family what doctors had said about the eventuality of Sarah’s condition: It was a death sentence. But the mother and daughter were determined to fight the disease and strive for normalcy.

Growing up in the hospital

Months after Fiona gave birth to Sarah, little pockets of fluid began to appear around Sarah’s joints, and she suffered from fevers that reached 107 degrees. When Sarah began to crawl, she moved awkwardly to avoid using her painful, swollen joints.

After visits to a succession of doctors and blood work that tested positive for autoimmune disease, Sarah was put on low-dose medications. She was fitted with little braces so that her joints weren’t deformed. Fiona focused on trying to keep Sarah’s life as normal as possible. At 18 months old, she was sitting on a horse, sharing in one of her mother’s passions.

But at 4, Sarah began to have migraine headaches that left her screaming on the floor. Fiona panicked, especially when she saw Sarah tilting her head to the side. Doctors discovered that Sarah had arthritis in vertebrae just underneath the base of her skull.

“It was the first time I was told that her life was in jeopardy,” Fiona said.

The arthritis was growing and spreading through Sarah’s spinal cord and affecting her heart and lungs. To protect her vertebrae, Sarah was put on TNF blockers, a type of medication that suppresses the inflammatory response.

Soon, the rest of her body was under attack. Her digestive system shut down, and she developed antibodies that turned against her immune system. Sarah’s symptoms would only grow and worsen as she aged.

Challenges mounted for Sarah when she went to elementary school. She had to navigate the hallways on crutches while someone else carried her backpack. Aggressive treatments and medications caused her hair to fall out. She couldn’t eat and was tube-fed through her stomach or an IV, which made Sarah feel nauseous.

Sarah wanted to make friends so badly that she didn’t tell Fiona about the bullying she faced. No matter how hot it was in Houston, she remembers wearing a thick, navy cardigan over her dress to keep other girls from pulling her dress’ zipper down. They thought it was funny how her hair would catch it and fall out.

It wasn’t long before Sarah would be considered a “homebound” learner, using the aid of teachers who would visit her at home or drop off assignments for her to complete.

’A club you don’t want to be in’

Although the TNF alpha blockers had protected the top of Sarah’s vertebrae, her digestion issues worsened and soon the rest of her spinal cord was plagued by antibodies, causing holes to form along her spine. Sarah was also allergic to many of the medications she took, creating new symptoms such as hives and other allergic reactions.

This domino effect led doctors to tell Fiona that Sarah’s body wouldn’t be able to sustain itself; the IV nutrition would destroy her liver and gastric feeding tubes were not sustaining her weight. She was still elementary school age when they gave Fiona a talk about how to keep Sarah comfortable for the rest of her life, however long or short it might be.

“I called the specialists together and said ‘I know you can’t fix her, but I’m mad at you for giving up on her,’ ” Fiona said.

Fiona didn’t give up.

Sarah’s doctors arranged for Sarah to be evaluated and treated at the National Institutes of Health in Maryland, where she underwent extensive testing. Her type of juvenile arthritis was so rare, doctors there referred to it as “Sarah’s disease.” Even if there wasn’t much they could do for her, researchers were able to learn more about the disease over years of working with Sarah, and she knew it could help them to treat others.

By the time Sarah was high school age, she looked like a cancer patient, she said. Between her aggressive disease, her 23 maintenance medications and routine chemotherapy treatments, she had bald patches on her head and dark circles under her eyes. Her weight dropped to 83 pounds.

Sarah’s medical team predicted that she would die in her early 20s. As her body wasted away, Sarah spent most of her time flat in bed with no energy and in constant pain. A small trip outside of the house would take three weeks of recovery time.