Overview:
Our little girl, Skyelah, was born with a rare disease that I had to keep pushing for answers & finally got an appointment at the NIH by the time she was 7 months old.
Symptoms:
spots, low grade fever, reflux
Testing/Diagnosis:
Arkansas Children’s Hospital, NIH
Treatment:
Anakinra, Ilaris
Resources:
National Institutes of Health, NORD, Rare Disease, Nomid Alliance
Personal Story:
I try to connect people to the right info after feeling helpless & alone when we couldn’t find answers for our baby. I was persistent even when Dr.’s said I was just overprotective & she’d outgrow whatever it was. You could tell she didn’t feel good & some days her spots were so bad we wouldn’t leave the house to avoid explaining. My biggest fear was the time going by would cause permanent damage & not knowing if she was dying. No one (in Arkansas), her Pediatrician, nor the specialist at Children’s Hospital, had a clue what was wrong with her. In fact, she has a scar from them doing a biopsy, thinking it was allergies. Once we flew out to Maryland & they tested her for a week, they clinically diagnosed her because her genetic mutation did not show up until they had it sent off for further testing. As soon as they gave her the first shot of daily medicine, Anakinra, her true self began shining for the first time since she was born. They changed her meds about a year later from daily to once every other month, Ilaris. Both of these meds are extremely expensive which has insurance scares that play a role in her future care. We continue to travel out to the NIH yearly for her testing where we see some slight changes in her physical functions each time.
Contributed by MOM Angela Rudd
For more information click HERE
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