Up until birth we had no clue the journey we were about go on with Rowan. Rowan wasn’t breathing at birth and he was rushed to the NICU. Once intubated and stabilized, they tried placing an NG tube and it would not pass. After assessing him further the Dr. then came in letting us know he was suspected to have C.H.A.R.G.E syndrome. He was born with bi-lateral choanal atresia, hypo gonadism, bi-lateral profound hearing loss and other ear malformations, kidney reflux and hydro-nephrosis, and a growth hormone deficiency. After genetic testing it was confirmed for CHARGE and also Kallmans syndrome. We spent almost two months in the NICU at Children’s Healthcare of Atlanta where amazing doctors and nurses took great care of him. Since then he has had 4 choanal atresia dilations, a g-tube placement surgery, an orchiopexy (descending testicles), and a hernia repaired. We have speech/eating therapy and physical therapy. He continues defying odds and being the strongest little boy I know.
What would you like to tell other people about CHARGE syndrome?
How incredibly strong they are.
The 2023 global theme for Rare Disease Day is “Health Equity.” What does equity in health mean to you?
Giving the children all the love, support, and tools they deserve.
