Stephanie's Story

My pregnancy went like most with no complications. We were very excited about becoming parents and had no idea that Stephanie would be born with so many problems. It took ages to find out what was wrong with her. She had so many tests, which just seemed to make more questions instead of answering them and there were lots of problems that would still take time to develop and other things would take time to improve.

Stephanie has CHARGE Syndrome. Besides having bilateral coloboma of the eyes and being profoundly deaf in one ear, she was born with a double right sided aortic arch, one of these arches was wrapped around her trachea and oesophagus which caused her to be strangled on the inside, she also couldn’t swallow, so every time we tried to feed her she would either go blue or she would gasp for air like a fish out of water. She needed constant suctioning.
She had the vascular ring surgically repaired when she was eight weeks old.
She still couldn’t swallow so she had a gastrostomy tube inserted into her tummy so we could feed her.
She also had severe sleep apnoea and would stop breathing on average of 44 times per hour, so she had to sleep with a CPAP mask on to keep her airways open. She also had a Grasby monitor that would alarm if she stopped breathing.
She was also under weight, so she had to be fed every three hours during the day and connected to a continuous pump overnight.
Her reflux was so bad that she needed to have surgery to prevent her from being able to reflux at all, therefore to this day she cannot burp or vomit. But amazingly still refluxes (???), so she stays on medication to stop acid production. She turns into a monster without this medication!
She had her tonsils and adenoids out when she was a year old and her sleep apnoea improved dramatically and we could finally say goodbye to endless hospital days where we spent most of the first year of her life.

It was really hard for both her and us as she is very different to other children her age, people would be noticeably shocked when I connected a tube and sat holding a 60ml syringe to feed her while they debated the breast vs. bottle issue. Some mothers would move their babies away while I changed her clothes revealing her scars and gastrostomy button, like she had some kind of contagious disease. Some people would watch her strange hand flapping behaviour and approach me to ask if she was spastic. A lady even gave me a lecture about how children battle with obesity because of parents like me who don’t let them out of their strollers to run around. I suppose people just don't imagine a 3 year old not able to walk, but these comments really hurt, especially when she understands what people are saying.
To watch doctors poke and prod, to watch her recovering from surgery, or even being resuscitated is one thing, but to watch her sitting on the sideline while all the other children are playing and running and jumping, while she flaps her hands in excitement, knowing that she would love to be part of their “normal”, must be the hardest part of all. When a little boy approaches her, you get all hopeful that he is going to include her in some way, but instead he asks her “are you stupid?”. The tears well in my eyes and the lump in my throat is very hard to swallow.
I know that she might always be different, she might walk like she just drank a bottle of wine, but she can walk!!!
It seemed like she would never sit up, never crawl, never stand, never walk, never eat or drink on her own and slowly but surely she has done all these things and she has now had her gastrostomy closed up and her tummy looks just like all the other kids… well, except for all the scars!
She is almost 5 now and when she wraps her arms around my neck, gives me great big fat kisses and says, “I love you Mommy”, all those bad times evaporate and I am filled with promise of what tomorrow will bring,