Mistaken for Pneumonia, RSV, and Chronic Aspiration–Family Finally Gets the Right Diagnosis

June 5, 2014

Croy was born October 23, 2012 at 39 weeks.

He weighed 8 lbs and was 20 3/4 inches. He was fine until the following day when they did his circumcision, hearing test and newborn screening all at the same time and noticed his rapid breathing & retractions. After a chest X-ray it was decided that Croy had pneumonia. We had him transferred to Arkansas Children’s Hospital that evening, and he spent five days there.

We came home after that experience and Croy seemed to be healthy, everything was great. Then, right after Christmas, on December 28th, Croy was diagnosed with RSV (Respiratory syncytial virus) and we spent eight days at the hospital. He finally kicked the RSV and we went home. After a month we went in for a check up and his pulse ox dropped after a chest x-ray, so back to the hospital we went. We were there for seven days this time.

During this stay they did a swallow study and told us that the problem was chronic aspiration and that we had to start thickening Croy’s feeds. Well, we left there on February 8th with oxygen. Croy was on .25 of a liter,  but as time passed his dependency on oxygen was worsening not getting better. Finally we changed pulmonary doctors and the new doctor agreed that the diagnosis was incorrect–this was not an issue of chronic aspiration.

Our next step was a genetic blood test and then possibly a lung biopsy. We went ahead with the blood test and prepared to wait 2-3 weeks.
On April 10, 2013 our life was forever changed. The results revealed that Croy has TTF1-Thyroid Transcription Factor-1 Deficiency Syndrome. It affects the lungs, brain, & thyroid. There are 23 known cases in the world & Croy’s mutation is completely new & there isn’t much information as far as treatment goes.

As of now we are doing pulse steroid treatments once a month. Please pray for Croy. He is the most amazing & bravest person I know!

Stay Connected

Sign up for updates straight to your inbox.