One Girl’s Incredible Journey to NOMID

Colleen and Sam were shocked when their sweet baby girl, Quinn, was born a few weeks early. She weighed only 3 lbs 6oz and was immediately taken to the neonatal intensive care unit where she had to rely on a breathing tube to keep her little body alive. Her fight for survival had begun!

“The day Quinn was born was one of the happiest of my life,” Colleen recalls. “But it was also the scariest.”

Over the next few scary days, Quinn improved and was able to breathe on her own. She seemed to be doing okay, but she developed a mild rash. Her doctors were not too concerned. Her neonatologist started her on an allergy medicine thinking it may be due to an allergic reaction to antibiotics she had received. It worked and Quinn’s rash disappeared. Quinn and her family were finally able to go home after 10 days in the hospital.

The first night at home, Quinn’s rash came back and was much worse. Colleen said, “The rash looked like a horrible case of hives, and it covered her body from head to toe.” Quinn also had a fever and was lethargic. Colleen and Sam rushed Quinn back to the hospital where she was admitted to the intensive care unit. She was started on IV antibiotics, IV fluids, and allergy medicines to bring the fever down and control her rash.

None of the doctors knew what was causing the rash and fever. The head neonatologist said he had never seen anything like it before. Once her symptoms were gone, Quinn was released from the hospital without a diagnosis.

During Quinn’s first year of life, she continued to have the same symptoms:

  • She wasn’t growing like she should
  • Her liver and spleen were enlarged
  • With her immune system weak, she developed pneumonia several times

During that year, Quinn’s family met with multiple specialists including:

  • Dermatologists
  • Immunologists
  • Allergists
  • Rheumatologists
  • Infectious disease specialists
  • Otolaryngologists (commonly referred to as ear, nose, and throat doctors (ENTs))
  • Geneticists

Quinn was put through multiple treatments and tests and no one could come up with a diagnosis. Dr. Kahn, a rare immune disorder expert, wanted to rule out all other possible causes of Quinn’s symptoms.

Quinn ended up in the hospital again on the week of her first birthday. Her little body was swollen and purple all over and she had a strange sounding cry. At the hospital, they found out her brain was swollen. Nurses and doctors wore masks afraid that Quinn had a contagious disease. Tests did show that Quinn was not contagious, but she had sepsis, a life threatening infection. She was once again admitted to the intensive care unit.

During her stay, Dr. Khan was determined to diagnose Quinn.

Colleen said, “Dr. Kahn came to us and said, ‘I think she has an auto-inflammatory disease called NOMID.’ It was the first time we had heard that name.” Quinn’s genetic tests were negative and she didn’t have the typical eye issues, but her other symptoms pointed to NOMID.

Dr. Kahn suggested starting Quinn on Kineret (anakinra) to see if it would work. Colleen and Sam agreed to give it a try. After the first injection of Kineret, Quinn’s rash and fever–that she suffered with every day since birth–disappeared. “We really couldn’t believe the results,” Colleen said.

“We knew in that moment that this had to be it—she had NOMID, and there was a treatment for it.”

Quinn is six years old now and is a typical little girl. She loves to play with dolls, host tea parties, and take dance lessons. Quinn is very special because she is one of only a few people in the world living with NOMID. There is no cure for NOMID, but daily doses of Kineret (anakinra) can control the symptoms so that Quinn can live a normal life.

Quinn has occasional flare-ups, including tiredness, fevers, nausea, headaches, and joint aches.

“We do have our rough days, but the good days far outnumber the bad ones,” says Colleen.

The long term effects of NOMID are not known, but Quinn’s family is hopeful about her future!

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