Tia’s Diagnosis: Toll Receptor 9 Deficiency

May 3, 2015

Tia was born a healthy child via C-section at 39 weeks.

Everything seemed fine until she was almost 3 months old. We brought her to the pediatrician with a fever. By the time she got in to see him it was afternoon, her fever had spiked to 103 and we were sent to our local hospital for observation for what seemed to be a UTI. She deteriorated overnight and at about noon the next day while breastfeeding her, she started to cough.

As I sat her up to pat her back she went completely lifeless and began to turn blue. The nurse was in the room with us, so as the codes were called, tubes were placed and CPR was started, we stood by helplessly watching. In the end after a week and a half of tests, we were told she had a kidney infection and had gone septic.

This went on for the next two and a half years. Tia had multiple UTI’s, URI’s, acidotic episodes, and ear infections. She was fighting to gain any weight, weighing in at a whopping 13 pounds at the age of 1. The doctors continued to search. Skin biopsies, sweat tests, blood tests, impedance probes, colonoscopies, bronchoscopes, laryngoscopies. Everything was coming back without an explanation for her symptoms. A G-tube was finally placed right before her second birthday.

Tia could not stand up straight, she had hypotonia, and still weighed in very small. At this point, when she was discharged from the hospital, we came home, washed our clothes and packed another bag for the next trip, it always came on so fast.

We had just about given up hope for a diagnosis and thought this is how our life will be, then right before her third birthday, after numerous recommendations, we saw Dr. Robert Hostoffer, who specializes in Allergy and Immunology.

We brought our binders of medical tests as he looked through everything, he promised us a result. He was eventually able to diagnose her with Toll Receptor 9 Deficiency. The other diagnosis have come with additional testing. He began IVIG therapy in hopes it would help, and Tia now has an infusion every two weeks, and it keeps her much healthier than before. She is a wonderful bright eyed little girl who would give you the shirt off her back. She understands that she must continue to do the IVIG or she will get sick and goes without a struggle.

She receives her infusions through a port in her chest because her veins have collapsed after all of the infections as a baby. She goes into everything with a smile and a positive attitude. She most recently had to have a spinal decompression due to spina bifida occulta that she has on top of the immune disease. She handled the body cast like a trooper. She is the brightest star on the darkest night.

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