Undiagnosed

EJ is 19 months old. He was born at 36 weeks because he wasn't growing and they didn't want to risk taking him to full term. He was 2 lbs 13 oz, 16 inches long, and stayed in the NICU for 6 months so he could grow. He was also born with end-stage kidney disease, ambiguous genitalia, high-ached palate, lung disease, and hypothyroidism. His kidney disease causes a lot of issues like bone disease (rickets), anemia (he requires blood transfusions often), and he's also at high risk for urinary tract infections quite often. His immune system is also weakened. He now has a trach/vent because his lung disease has finally been narrowed down to tracheabronchomalacia.

EJ is currently back in the hospital (since August) because he had a severe stomach ulcer. It took 2 months for it to finally stop bleeding. But during that time he developed a serious blood infection which turned into septic shock, and we almost lost him. Recently he developed another blood infection but it was caught early, so not as serious. He will be here for at least another 6 weeks.

EJ still has trouble growing (he's still small for his age). He has small hands/fingers, and feet/toes. Due to being in the hospital for so long (and so often) he also has developmental delays and requires PT/OT/Speech. He is g-tube fed as well. I am not sure if the delays are from his syndrome, or if they are just because he was born small and spent so much time in the hospital, or a combination of both.

The doctors believe all of his problems are tied together somehow and they insist the "syndrome" he has is genetic, though they've tested for everything it could possibly be. One of the reasons they believe it is genetic is because my mom had a baby born before me who only lived for 12 minutes. She had Myelomeningocele which EJ doesn't have, but she also had no kidneys which the doctors find very interesting since EJ had kidney disease.

The doctors are reviewing the slides of my sister's autopsy so they can compare what they know about EJ with her slides. I would love to know what his "official" diagnosis is. Maybe there is a treatment out there, and it would also be helping information to me in case I'd like to have more children one day. I don't know what diseases they have ruled out, but I know whatever he has is NOT common because otherwise I would assume they'd know what it is.


Contributed by MOM Katie Tran. To follow EJ's story, check out his Facebook page - "Be Positive" for EJ