Since her birth, E has struggled with routine procedures and new problems seem to crop up one right after another. What we originally thought would be a 2-3 week stay at the NICU slowly morphed into a 2 month stay and what we had hoped would be simple surgeries became complicated rather quickly. In the first few days after E was born, we were informed that choanal atresia is sometimes associated with other birth defects. There is a recognized grouping of these birth defects known as CHARGE syndrome. Initially, CHARGE syndrome was ruled out as E did not seem to have any of the other features, but when she started struggling with swallowing, the doctors decided to take a closer look. She was clinically diagnosed with CHARGE syndrome at almost 4 weeks old, but we only recently confirmed it with genetic testing.
So what is CHARGE? The CHARGE Syndrome Foundation says:
"CHARGE syndrome is a recognizable (genetic) pattern of birth defects which occurs in about one in every 9-10,000 births worldwide. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. The vast majority of the time, there is no history of CHARGE syndrome or any other similar conditions in the family. Babies with CHARGE syndrome are often born with life-threatening birth defects, including complex heart defects and breathing problems. They spend many months in the hospital and undergo many surgeries and other treatments. Swallowing and breathing problems make life difficult even when they come home. Most have hearing loss, vision loss, and balance problems which delay their development and communication. All are likely to require medical and educational intervention for many years. Despite these seemingly insurmountable obstacles, children with CHARGE syndrome often far surpass their medical, physical, educational, and social expectations."
"The letters in CHARGE stand for: Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness. Those features are no longer used in making a diagnosis of CHARGE syndrome, but we're not changing the name."
Clinical diagnosis is now made using the four major features or the four "C"s.
Choanal atresia. This obviously was E's biggest issue.
Coloboma. This is a hole or cleft in the eye that usually affects vision. E has a teeny tiny coloboma in her left eye. The opthamologist doesn't think it will affect her vision , but only time will tell.
Cranial nerve abnormality. This can affect swallowing, sense of smell, and cause some facial palsy. E is having issues with swallowing, but it is unclear whether this is due to her CHARGE or her traumatic start. We have no idea if she can smell due to the choanal atresia and at this time she doesn't appear to have any facial palsy.
Charge ear. This involves the outer, middle, and inner ears. The outer ear is shaped differently and you can see E's ears are floppy on top. The middle and inner ears can be malformed causing hearing loss and balance problems. We know that E can hear, but it is unclear if she has any hearing loss.
Chargers are extremely complex individuals, so things are never very simple. Getting E off her trach will be a long process. In fact, we will not even be attempting more surgeries on her nose or trach until 2013. Getting her to eat by mouth will more than likely take quite a long time. She will probably have constant problems with her ears even after surgeries for many years. And speaking of surgeries, anesthesia is never routine with a Charger.
E is amazing. Yes, she has some extra challenges, but we would never trade her for a "typical" child. She smiles with her whole body and her laugh (though not audible) brings us so much joy. She loves to play with her big sister and is currently trying to crawl. She likes to "talk" by blowing raspberries and is able to get some squeaks out as well. She has already taught us so much about ourselves and God. We look forward to seeing how she'll surprise us. Every new milestone is so much more amazing when you aren't sure it will ever happen.
So what does E's future hold? To be perfectly honest, we have no idea. With a special needs child, there are no illusions of predictability. We do, however, know the next few steps. This next year I am going to call The Year of Therapy. Lord willing, there will be minimal hospital time and we will focus on developmental challenges, eating by mouth, and speech therapy and/or sign language. We're going to hopefully see her grow and get stronger and be ready to potentially have 2013 be The Year of Surgery.
We are so grateful for all of your prayers this past year as we see how God has been at work in her life as well as ours. We will continue to ask for your prayers as we try to do what's best for our little girl and give her all the support and opportunities possible in this day and age. Thank you!