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CHARGE Syndrome

CHARGE Syndrome Poster Child
Michael Kruger

CHARGE Syndrome Poster Child
Kennedy Weir

Introduction

CHARGE syndrome (also known as CHARGE association) involves a specific set of birth defects that occur in early fetal development, however, the exact cause of the syndrome is not known. CHARGE syndrome affects 1 in 10,000 to 1 in 12,000 live births, occurs in both males and females and has been seen in all races and socioeconomic backgrounds. It is typically sporadic (no other affected members in the family), however, there is a recurrence rate of 1-2%. The risk of an affected individual having an affected child is much higher.

 

Features and Characteristics

The term CHARGE comes from the first letter of some of the most common features seen in children with CHARGE: C = coloboma, H = heart defects, A = atresia of the choanae, R = retardation of growth and development, G = genital and urinary abnormalities, E = ear abnormalities and/or hearing loss. There are several other features associated with the syndrome as well, such as cleft lip and palate, tracheo-esophageal fistula or atresia, facial palsy, swallowing problems, weak upper body strength, seizures, microcephaly, abnormalities of the pituitary gland, and poor immune system. The physical findings and symptoms of individuals with CHARGE syndrome may vary greatly.

Coloboma - This is a cleft or failure to close of the eyeball, which can result in abnormalities in the retina or optic nerve. Colobomas can result in significant vision loss, especially in the upper half of the vision field. Surgery cannot correct a coloboma, however, glasses may improve visual acuity. Children with CHARGE are often sensitive to light and may need sunglasses outdoors as well as indoors.

Heart defects - Approximately 80% of children with CHARGE are born with a heart defect, many of which are minor. However, some of the heart defects associated with CHARGE may be life-threatening. Tetralogy of Fallot is the most frequent type of heart defect.

Atresia of the choanae - Children with CHARGE may have blocked or narrowed passages from the back of the nose to the throat. Surgery can correct this feature, however, many surgeries may be required.

Retardation of growth and development - Most children with CHARGE are born average size, however, due to the heart and nutrition problems or growth hormone deficiency, children often become smaller than average. Most children with CHARGE are developmentally delayed, which is often the result of vision and/or hearing loss. Some children with CHARGE may have mental retardation, with or without brain abnormalities.

Genital and urinary abnormalities - Many boys have undescended testes and a small penis and girls may have small labia. Both may require hormone therapy to achieve puberty. They may also have kidney or urinary tract abnormalities.

Ear abnormalities - Children with CHARGE may have short, wide ears with little or no earlobe and they may be soft due to floppy cartilage. The outer portion of the ear may appear as though it has been snipped-off. Hearing loss is found in approximately 80-85% of children with CHARGE ranging from mild to profound.

 

Diagnosis

The diagnosis of CHARGE syndrome is based on finding at least four of the six characteristics associated with the syndrome, and should be made by a medical geneticist who has ruled out other syndromes with similar features. Disorders with overlapping features include VATER association, velocardiofacial syndrome, and prenatal retinoic acid exposure.

 

Treatment

There is no cure for CHARGE syndrome, however, many of the symptoms can be treated. For example: some of the structural abnormalities such as choanal atresia, cleft lip, and heart defects can be surgically corrected; steroids may be given to regulate or correct problems with reproductive organs; hearing aides and glasses can be used to improve hearing and vision loss; and several different therapies may be useful, particularly those which focus on speech, vision, and hearing.

In terms of educating a child with CHARGE syndrome, the teachers must be aware that learning material should be presented to the child at various angles so that the child can view the information correctly. It is important that members of the educational team include a teacher of the deaf and hard of hearing, a teacher of the visually impaired, an audiologist, the child’s pediatrician, and, of course, the parent.

 

What to Expect

Given the potential frailty, children with CHARGE syndrome may be in and out of the hospital the first few years of life. The prognosis for an individual with CHARGE becomes poorer if he or she has more than one of the following features: cyanotic cardiac lesions, bilateral posterior choanal atresia, and tracheo-esophageal fistula. Typically, it is not the structural heart defects or choanal abnormalities that put the individual at the most risk, but pharyngeal and laryngeal incoordination, which results in aspiration of secretions.

The outcomes are improved, however, if there is a collaboration between surgical teams, allowing necessary procedures to be performed at the same time to minimize the number of anaesthetic uses. And, although children with CHARGE syndrome may have serious medical problems, with the proper treatment and care, they can survive and lead healthy and productive lives.

 

Personal Stories

Kennedy Victoria came to us at 6:59 a.m. on Tuesday, January 27th, 1998. It was a wonderfully easy pregnancy, labor and delivery. Immediately after she was born though, she did not cry and the doctor assured me that he just had to "clean her nose out." She was covered in a very thick layer of vernix, and he thought that this vernix might have been blocking her nose. After a minute or so of trying to clean it out, he took Kennedy down to the neonatal unit to get them to do it. Little did I know that this was to be the beginning of a very long journey for us.

After about an hour and a half of not knowing what was going on, my doctor and an ENT (ear, nose and throat) doctor came down to explain to me that my daughter had "bilateral choanal atresia." They explained that this was a blockage of her nasal passages, that she would require an oral airway to breathe with, they wouldn’t be able to repair it until she was two, we’d have to go home with oxygen until then, and on and on it went. We spent most of that day trying to come to terms with this atresia thing, and just trying to learn how to say it.

The next day, the neonatalogist told us that the choanal atresia is usually a sign of other things and that they wanted to do some tests on her heart, brain, stomach, eyes, and ears. You can imagine our shock. This was the first day we heard the word "CHARGE." After five days of tests, she was sent to the nearest children’s hospital (about 5 hours away), as her heart was not in very good shape, and our local hospital did not do pediatric cardiology.

It was a long drive for us to that children’s hospital; Kennedy was airlifted and neither of us were allowed to accompany her on her plane ride. We found out only hours after we arrived that she would soon be in heart failure due to the two large holes in her heart, her patent ductus arteriosis and her coarctation of the aorta. You could’ve dropped a one ton weight on my chest and it wouldn’t begin to explain the feelings we were having. We were utterly terrified at what may happen to our sweet baby girl.

I’m happy to say that was almost a year and a half ago. She survived the heart surgery she had at 9 days of age just fine and had her choanal atresia repaired at 8 weeks. She’s had two subsequent laser surgeries to open her atresia again, but other than that, her nose and heart have come through with flying colors.

After those two "life-saving" surgeries, her hearing loss was diagnosed – 90dB loss in one ear (severe) and 65dB loss in the other (moderate), her colobomas were diagnosed (both eyes on the optic nerve), and she had a gastrostomy tube and a Nissen fundoplication done last July for feeding. Her cranial nerves, which control her swallow, are affected, which is why she is tube fed. She also has mild bladder to kidney reflux in both kidneys, which completed the entire CHARGE acronym.

We are now at eighteen months and she’s doing really well considering her long hospital stay from birth to almost 4 months of age. She wears an eye patch for 2 hours a day, as her right eye is "lazier" than her left. This has gone down from 4 hours as her vision improves. She wears the cutest little Mickey Mouse glasses and two hearing aids as well. Kennedy can sit up on her own, as well as stand holding onto things. Getting into these positions is just starting to come now. At a recent conference for CHARGE syndrome, I learned a lot about children with CHARGE having vestibular problems. This would partially explain her delay in gross motor development. Her fine motor development is coming along wonderfully. She’s got quite a little personality emerging; she knows just what she wants and will do just about anything to get it, including turning on her lovable smile.

We have just begun seeing a speech therapist, in addition to her occupational therapist, physiotherapist, vision and hearing teacher, early interventionist, audiologist, orthoptist, and of course, her wonderful pediatrician. There are many appointments, but it truly is a labor of love. We’ve taken the summer off to give ourselves a break and to have some "normal" family time, whatever that is!

My words of advice to new parents of a child with CHARGE would be to get as much "good" information as possible, arm yourself with questions and information before all appointments. (especially specialists, and "new" people seeing your child for the first time). Talk to as many other families as possible. The Internet has been my saving grace this past year and a half with a wonderful group we have on a listserv. They are a wealth of information, and can answer almost anything, or point you in the right direction to get the answers you seek. Things may seem so overwhelming at first with such a huge and seemingly all-encompassing diagnosis, but try and be strong because believe it or not, things do calm down eventually and fall into a routine. You will survive!

We all have high hopes for Kennedy, as she has had services in place pretty much since birth, with some very wonderful and dedicated people, and a loving family behind her to work with her and support her throughout her life. We know that with hard work and determination, Kennedy will do great things.

If I could, I would wish the CHARGE away (for her sake), but I would never wish away this wonderful "world" of people that I’ve met because of it, or the lessons I’ve learned from having this wonderful, special child. I’ve learned more from this child in the past 18 months than I have in my entire life before her. - Lisa Weir

Michael was diagnosed with CHARGE syndrome at birth. He has bilateral colobomas of the optic nerves with resultant blind regions in his visual fields. He has facial nerve palsy and lazy eye on the right side and the nerves of swallowing appear to be affected.

Michael had open heart surgery to repair a large ventricular septal defect (VSD) and atrial septal defect (ASD) when he was 3 weeks old. Although Michael does not have atresia of the choanae, he did have obstructive sleep apnea. This was diagnosed by a sleep study and appears to be common in children with CHARGE.

Michael has delayed motor skills due to problems with balance, which also is common in children with CHARGE. He is very small for his age and was recently diagnosed with growth hormone deficiency.

Michael had a small penis at birth, but was treated with testosterone injections once a month for 3 months as an infant. The testosterone therapy was effective and also increased his muscle tone. Michael has reflux from the kidneys to the bladder (vesicoureteral reflux), which also appears to be common in children with CHARGE. He had a normal renal ultrasound after birth and has never had any signs of reflux or infections. A voiding cystourethrogram (VCUG) revealed the reflux and he has been treated with prophylactic antibiotics since diagnosis as a newborn.

Most children outgrow the reflux and Michael's reflux is resolving. Michael has small ear lobes and a moderate to profound hearing loss on the left (65 dB), and a severe to profound hearing loss on the right (95 dB) side. He has been aided since birth and hears at 20-30 dB with aids. Although Michael has had tubes in his ears because of fluid, he is unusual for a CHARGE child in that he has only had 2 mild ear infections.

Due to feeding difficulties, Michael was fed by a nasogastric tube during the first months. He had a fundoplication performed to prevent reflux from his stomach to esophagus and a gastrostomy to assist with feeding at 5 months of age. Today he is able to eat and enjoy all types of food, but still has trouble swallowing liquids and receives nearly all liquids through his Mic-Key gastrostomy button. Recently, he was referred to a nutritionist who shook her head and said, "So, they sent me a kid who likes to eat raw spinach, broccoli, and tomatoes. He is a dream child." We think so too!

When he was almost 2 years old, he had his tonsils and adenoids removed due to recurrent obstructive sleep apnea and has had no difficulties since.

Michael was diagnosed with scoliosis, which is common in young children who have congenital heart defects and/or syndromes, when he was 2 years old and is monitored every 6 months for progression. He also has rotated ankles and wears dynamic ankle foot orthoses (DAFO) splints, which have helped him with walking. He recently has been receiving therapeutic horseback riding (hippotherapy), which has greatly helped his upper body strength, balance, and walking.

Now you can understand why we say that he is our "some assembly required" child and have realized that he came without instructions and some of the parts were missing!

Although Michael has considerable residual hearing and we were told that he would be able to speak, he has not progressed well verbally. We have started learning and teaching sign language to Michael and our daughter and we are very pleased with their progress.

Due to his combined vision and hearing loss, Michael is considered deaf-blind even though he has considerable residual vision and hearing. We have been learning about deaf-blind issues and have realized that it is critical to address these in order for Michael to reach his full potential. Children with combined vision and hearing loss who have undergone multiple surgeries as infants frequently have sensory integration issues which must be addressed through therapy. It is important to slowly and repetitively co-actively sign with these children in order for them to fully learn the signs due to their blind regions.

Michael will have a one-on-one aide with training in deaf-blind issues (intervener) for school. An intervener helps deaf-blind children to clearly and consistently access information and supports communication by providing incentive and motivation. Nondisabled children learn most of what they know incidentally, but deaf-blind children are not able to learn as well by just "being there." Children with combined vision and hearing loss CAN and DO learn, but they need appropriate intervention to succeed.

Michael is a smart kid who likes to figure out how things work. He started sorting by color and shape when he was one year old. Michael is a typical boy who enjoys playing with cars, trucks, puzzles, books, stuffed animals, and action figures. He especially likes riding his trike, swinging, climbing, sliding, building, coloring, walking around the block, splashing in the swimming pool, rough-housing with his dad, and snuggling with his mom. He loves to play the drums, piano, and keyboard and is fascinated by lights. He adores his family and cat and enjoys the company of other children. Michael has a wonderful personality and sense of humor. His laugh is infectious and he is nearly always happy, affectionate, and a joy to be around. - Cheryl Kruger

Lauren was born on 2/22/91 by C-section. A non-stress test was performed because she was a week late and her heart wasn't responding as well as they would have liked, so it was suggested to do the C-section. CHARGE syndrome wasn't diagnosed until she was a few days old. The first major problem noticed was the choanal atresia. After that, it was a series of tests, etc. and CHARGE association was diagnosed at the time.

Lauren has the characteristics of CHARGE by carrying at least 4 of the letters (hers is cHARGe). We've had many struggles over the past 8 years, but Lauren is doing very well considering. She has proven to be a difficult child in the sense that she can't be put on the milestone charts or growth charts. She grows to her own beat and progresses the same. She has always been at least 2 years behind cognitively. She had a tracheostomy for 18 months and didn't chew until she was 4 years old. Many things caused her to be behind in speech but there are other problems involved. It seems that her height and weight are about the average of a 5-6 year old. Strangely enough, she is mentally about the same. This is what we found to be the norm for her - very delayed. The beauty of it is that she does march to the beat of her own drum and we're marching right along behind her. We let her call the shots on a whole and lead us down this crazy path.

Lauren is a true survivor for sure and a great trooper on a whole. She's had many surgeries and we always see doctors, but she hangs in the best she can. These children are very amazing at what they can achieve if allowed, or better yet, "pushed." Understanding their disabilities can better aide in their schooling and medical care.

Lauren truly exhibits a language processing problem as well as auditory memory. This makes it trying on teaching her because she can't process it the same as us. Also, she has no sense of smell and limited sense of taste. Many things are still unknown and it is always a waiting game. She receives physical therapy, speech therapy, and occupational therapy as of now. Most of her surgical problems are taken care of, except she may need angioplasty, and she has 2 leaky heart valves, which could result in a valve replacement surgery. As I said before, she is doing pretty well.

Lauren is a very sweet child and a joy... most of the time (haha). She is a little too trusting with strangers (NOT DOCTORS) and friendly. We find that the more we push Lauren, the more she WILL accomplish... of course there is a limit to how hard she WILL be pushed. She is a stubborn child and very hard-headed about her thoughts, actions etc. I admire her strong sense of herself the most. She amazes us all the time with her strong-willed mind. - Mary Shultz

My daughter, Rachel, almost 4 years old, is quite a social butterfly who loves meeting new friends, hugging grandparents, jumping on the trampoline and wrestling with her brothers. Recently, she has learned to kiss. She puckers up her little lips and with a tiny plump hand on each side of my head she leans close to my cheek and ever so gently makes that sweet little kissing sound.

Today, I checked on her during nap time to see if she was asleep. She wasn't. She was playing "Peas Porridge Hot" by clapping her hands together and then clapping the shadow of her hands on the wall. She was very delighted with her newfound companion and silently laughed as she played. Not too long ago, I snuck into her room to get something when I thought she was asleep and I found a big mess. She had thrown her pillow and blanket, her pacifier, her shirt, shorts, socks, and DIAPER onto the floor. When I called her name, she was so surprised and excited that she tried to stand up but couldn't because she was underneath the fitted sheet that was still attached to the corners of her bed. She has beautiful curly brown hair and when she finally stuck her head out from under the sheet grinning from ear to ear, her hair was sticking out in every direction as if it, too, wanted to jump out of bed to play.

She truly is a bundle of enthusiasm but she is also very reflective at times. Before she could even walk, she had learned to climb up on the couch in the sun room and stand on the windowsill with her face pressed against the glass as she marveled at the sunshine pouring in. It was her favorite spot. Now, her favorite spot is in front of her mirror. I love to watch her as she stands close to the mirror with her baby doll, watching herself loving and patting and kissing her baby. If you were here you would love watching her, too. She would captivate you with her spirit, determination and sheer joy of living. I guess I've told you most of the important things about Rachel except, oh yeah, she also has CHARGE syndrome.

For Rachel, having CHARGE syndrome means that she has peripheral, nearsighted vision in one eye with no vision in the other eye. She also has a profound hearing loss in one ear and a mild hearing loss in the other ear. She wears glasses and one hearing aid. She has a tracheostomy placed in her neck to open her airway so that she can breathe easier. All of Rachel's nutrition is given through an opening in her stomach called a gastrostomy button. She has had 9 surgeries, has balance difficulties, and cranial nerve abnormalities (among other things). But mostly Rachel is a bright preschooler who laughs when she is happy, cries when she's hurt, and wants her Mama a lot. She will be going to school all day this year at the Regional Day School for the Deaf, where she learns all of the usual stuff in a total communication environment (speaking, visual aids, sign language). I love watching her talk with her hands, especially when she shapes her fingers into the sign, "I love you." If you were here, you would love watching her too. - Cathy Allen

 

Resources

If you are interested in meeting other parents and individuals who are involved in raising a child with CHARGE syndrome, the following listserv is available:

CHARGE List - To subscribe, simply click here: http://www.onelist.com/subscribe.cgi/CHARGE

For more information on CHARGE syndrome, please visit these helpful sites:

 

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