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Learning to Appreciate the Little Things

My youngest daughter was born with CHARGE syndrome. As an infant and toddler, she was in and out of the hospital so much that the hospital was like a second home and everyone there knew her. She has undergone 15 to 20 surgeries. She came home from the hospital on a feeding tube, pulse ox monitor, and oxygen and had to be suctioned frequently. She has a list of 20-plus doctors and specialists that she sees. She is legally deaf-blind and has balance issues. We were told that she would probably never walk independently. She did not eat by mouth until she was 3 years old and didn’t walk independently until she was 4 years old.

So what is CHARGE syndrome? CHARGE syndrome is a complex syndrome that involves many systems of the body. CHARGE is an acronym that stands 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. CHARGE syndrome is a rare syndrome that affects one in every 9-10,000 births throughout the world.

The characteristics from the acronym are only a few of the many abnormalities children with CHARGE syndrome may be diagnosed with. There are three categories listed as diagnostic criteria. The first category is the major characteristics. These characteristics are common in CHARGE syndrome but relatively rare in other conditions and are easily diagnosed in the newborn stage. The major characteristics include: 1. coloboma of the eye—clefting of the eye that can cause vision loss; 2. choanal atresia or stenosis—blockage or narrowing of the nasal passages; 3. cranial nerve abnormalities— missing or decreased smell, swallowing difficulties, and facial palsy; 4. CHARGE outer ear—specific shapes or missing parts of the outer ear; 5. CHARGE middle ear—malformed bones in the middle ear causing a conductive hearing loss; and 6. CHARGE inner ear—malformed cochlea and underdeveloped or missing semicircular canals that cause sensorineural hearing loss and balance problems.

The minor characteristics are also common in CHARGE syndrome; however, they are also common in other syndromes and not easily used in diagnosing CHARGE syndrome. The minor characteristics include:

1. heart defects—many are complex; 2. cleft lip and/or palate; 3. tracheoesophageal fistula—hole between the trachea and esophagus; 4. kidney abnormalities—small, missing, or misplaced kidney and/or kidney reflux; 5. genital abnormalities; 6. growth deficiency; 7. typical CHARGE face; 8. hockey-stick palmar crease; and 9. CHARGE behavior —autistic like tendencies and OCD.

The last group is “Other” characteristics that are important in managing health but may not be helpful in diagnosing CHARGE syndrome. The “Other” characteristics include: 1. chronic ear issues, 2. sloping shoulders, 3. limb/skeletal issues, 4. central nervous system abnormalities, 5. thymus or parathyroid abnormalities, 6. omphalocele, 7. nipple anomalies, 8. hypotonia, and 9. scoliosis.

Many children with CHARGE syndrome spend many months in the hospital during infancy and undergo multiple surgeries. Many will be diagnosed as deaf-blind and will be unable to walk independently for several years. A majority of these children will be unable to eat by mouth for many years and will be fed via a g-tube. Several will need to have a tracheostomy and be on a ventilator for many years. Most children with CHARGE syndrome will have a large list of specialists that they will have to see their entire lives.

Children with CHARGE syndrome will be affected in varying degrees. Not all children will have all characteristics, and the severity of each will vary. Many of these children overcome these insurmountable obstacles and lead happy and productive lives.

Today my daughter is a happy, active, and determined 11 year old. She now runs and jumps even though the doctors said she wouldn’t. Although we hadn’t anticipated all of this and our lives have forever changed, she has taught us to never give up. We learned to appreciate all the little things in life that many take for granted.

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