Updated diagnostic criteria states that any baby born with one of the major features of CHARGE (listed below) with other congenital defects should be considered for a diagnosis of CHARGE. Also, in 2004, a genetic discovery was made regarding CHARGE in the Netherlands; they discovered mutations or microdeletions on the 8th chromosome, on a gene called CHD7, causes CHARGE. Studies are ongoing; this may be only the first of many genetic findings. A negative CHD7 test does not preclude your child from having CHARGE; it is expected that more genetic findings related to CHARGE will be made in the future.
Kennedy's blood, as well ours, was tested for the CHD7 mutation. She tested positive for the mutation, but we did not; in other words, she has what is known as a "de novo" mutation. The testing was done at Baylor College of Medicine in Texas. This means we do NOT have an increased risk for having another child with CHARGE syndrome, nor do her brothers. We learned from Dr. Lalani at the Miami CHARGE conference in July that the mutation Kennedy has is R1069x on exon 13 of the CHD7 gene on chromosome 8. Yikes! this didn't mean much, but she explained it very well: the "R" represents arginine, a protein that grows on that particular gene (CHD7). The "x" represents a "stop" - if the arginine protein was supposed to grow to 3000 at exon 13 (a section of the gene), it stopped at 1069, so it is shorter than it is supposed to be.
The results of this study were published in the Nature Genetics Journal in September, 2004.
Before the genetic findings and refinement of major & minor criteria to make a diagnosis, CHARGE diagnoses were made clinically using the acronym.
C= "C"oloboma of the eye or eyes - Can range from different parts of the eye not forming properly to different levels of vision loss and blind spots. "C"rainial Nerve abnormalities - can cause such things as facial palsy and swallowing problems, problems with the movement of food down the GI tract, lack of smell and taste, and hearing loss.
H= "H"eart defects - these can range from minor to major, some requiring surgery.
A= "A"tresia of the choanae - The passages at the back of the nose/throat do not form properly and may be "blocked" which may require surgery to make it possible to breathe.
R= "R"etarded growth and developmental delay - Often caused due to feeding/nutrition problems, growth hormone deficiency, surgeries, lengthy hospital stays, and sensory impairments. Please note, just because the word "retardation" is part of the CHARGE acronym, this does not necessarily mean "mental" retardation.
G= "G"enital hypoplasia - Mostly in boys, small penises, undescended testes. There can also be urinary and or renal abnormalities
E= "E"ar anomalies - Malformed ears and/or different levels of deafness.
This is just a short snippet about CHARGE. The very best source for information relating to CHARGE syndrome is the CHARGE Syndrome Foundation. They have a great "About CHARGE" page; please visit them for more information on the full listing of the major & minor features, medical, educational, and developmental implications.
Kennedy explains CHARGE. This is a video Kennedy's teacher took of her presenting what CHARGE is to her sixth grade classmates. Many students just thought she had a hearing loss and were curious. We thought Kennedy was the best person to explain it. Some terms and information were simplified for the audience.
I would just like to add some of my own thoughts about CHARGE syndrome, and how we've been coping so far. If you are a parent of a newly diagnosed baby or child, I'm sure you are extremely "shell-shocked" at the moment. Kennedy was born in 1998, and we are pretty much settled into a "normal" (whatever that is!) routine, but we still have bouts of CHARGE craziness when something pops up we weren't expecting, etc. It hasn't always been easy, but definitely always worth it!
The first year was much harder, but I'm happy to say that it does calm down eventually. Sometimes, just when we thought things were getting "normal", something new would surprise us, but we've found it a little easier everytime.
One thing I want to mention is that even though all the "possibilities" of CHARGE symptoms are listed above, that doesn't mean every baby or child with CHARGE has all of them - they are all different, and each symptom can vary in degrees of severity. I can tell you that for us, information has been the key in how we've coped. We have tried to read and find out all that we can about CHARGE.
I can't stress enough how the people within the CHARGE mailing list have helped us, you can ask them ANYTHING, or just go there and vent your frustrations, because you know that they all will understand. If there is something you are wondering about, someone on this list can help, either by answering it, or pointing you in the direction of someone who can.
If you get the opportunity to attend one of the CHARGE Syndrome International Conferences, I highly recommend it. For more information, please visit the CHARGE Syndrome Foundation. Meeting other families who are going through similar situations and being in a place for a short time where everyone "gets it" is a life-changing opportunity.
If you would like to contact me personally, please email me, I would be happy to speak to anyone online or on the phone who wants someone to talk to.