Toby was born 10 weeks premature due to severe IUGR (intrauterine growth restriction.) He weighed only 980 grams and spent 131 days in the NICU. He was underdeveloped and immature, and he required several platelet and red blood cell transfusions. Toby was diagnosed with hypothyroidism early on, and then he primarily had issues with growth. We tried several different formulas and his growth was minimal, and at times stagnant, throughout his stay in the NICU. He had great difficulty tolerating feeds. Oral feeds led to pneumonia caused by aspiration, and any diet changes caused severe diarrhea. A G-tube placed just prior to his discharge.

Joey-and-TobyWe had to take Toby to the emergency room almost immediately after bringing him home, and before long he was a familiar frequent visitor. Within two months, Toby was on a ventilator in the PICU after his lung collapsed following another pneumonia. Toby had repeated episodes of pneumonia and nearly died many times, but doctors were mystified as to why he would become so severely ill so frequently. Test after test came back negative. We had no answers. When he was about 9 months old, genetic testing incidentally alerted doctors to a chromosomal abnormality. Looking further into this, we learned that Toby had monosomy 7 in 35% of his peripheral blood. Next, a bone marrow biopsy was performed.

Toby’s geneticist was checking with colleagues all around the world, and he came across medical research conducted in Japan regarding MIRAGE syndrome, a genetic disorder caused by SAMD9 mutations. Toby’s symptoms fit with the 11 patients involved in a Japanese study, according to an article that had been published only three weeks prior, and the Japanese researchers tested Toby’s blood and confirmed the mutation. Whole exome sequencing also confirmed the mutation, and led us to two other patients in the US who have also recently received a MIRAGE diagnosis. Toby is currently preparing for a bone marrow transplant to eliminate risk of leukemia, and his older brother will be his donor. After that, the prognosis is unknown since most of the study patients passed away in infancy or young toddlerhood. We hope to connect with more families as MIRAGE becomes better known, so that we can support one another as well as compare notes to learn how to best treat these children and give them the best opportunity for survival.

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