Andi Bean has CHARGE Syndrome. I've never really said it or discussed it much. I haven't really felt ready to discuss it with everyone. But, maybe by discussing it, not only help educate people, maybe it will somehow help Andi.
What is CHARGE Syndrome?
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.
Did we know that we were winning the genetic lottery? Uh, that'd be a big NO. Starting at 19 weeks of gestation, we were told that not only were we having a girl, but she had hydrocephalus, ventricularmegalie, and an umbilical cord varix. ... "A What?" ... Yeah, I hear ya. Hydrocephalus is water on the brain... I believe they said we had that because of the enlarged lateral ventricles in her brain, aka 'ventricularmegalie'. The umbilical cord varix is just fancy way of saying there was a slight enlargement of a small section of the umbilical cord. We did an amniocentesis, blood tests, an MRI, and a fetal echo cardiogram. Throughout all the testing, the tests came back with genetics, our perinatologist at the time, & a neurologist all concluding that our worst case scenario is that Andi could possibly have learning disabilities and maybe seizures. They had me do ultrasounds every three weeks, to measure the lateral ventricles in the brain. They remained just slightly enlarged. At 26 weeks, we did a follow-up fetal echo, because at 19 weeks, the fetus is just too small to get a good look. The cardiologist stated he thought he might see a small hole in the bottom part of her heart. However, 80% of those close up on their own by the time the baby is born. He said we'd do another echo after she was born. Not only do we have a hole in the bottom part of her heart, we have a bonus hole in the top portion of her heart that you couldn't see on a fetal echo. In addition to that, she has a valve that needs to be turned from one big one into two little ones. So, basically, her heart is working way too hard, and the blood is going to the path of least resistance, her lungs. She's taking diuretics to help her body work more efficiently. It's a tightrope of fluid balance, keeping her not too wet and not too dry. Giving oxygen helps her body, but it also sends more blood to the lungs. So, we're kinda stuck. Her heart is messing with her lungs. They're both working so hard it's hard for her to put on weight, as it's like she's in a constant aerobics class. She has trouble nippling (taking a bottle) because she's breathing so hard. Your body naturally wants to protect itself, and breathing comes first. So breathe or swallow..., yeah, I'd breathe too. I believe a lot of her reflux is due to the fast breathing as well. Imagine a marathon runner trying to stop and eat when their heart & respiratory rates are so high... yeah, it's a nice projectile vomit!!! In any case, they feel that she can't really thrive until we address the heart defects, despite wanting her to initially be 12 pounds and 4-6 months of age. The bean is almost 12 weeks old, and only about 8 lbs. She was born 5 lbs, 6.2 oz's.
In any case, as to her having CHARGE Syndrome. CHARGE is a menu of options of problems a child could have.
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. (source: http://www.chargesyndrome.org/about-charge.asp)
However, those are the main obstacles, there are minor obstacles CHARGE too. Andi does not have coloboma, but she has a complete AV Canal heart defect, choanal atresia (nasal blockage), ear abnormalities and is deaf in her left ear, partial hearing in her right - but we don't yet know to what level. Her MRI also revealed that she lacks a certain fluid in part of her brain, indicating that she will have balance issues. She's definitely small, but that's also a symptom of the heart defect. She has feeding issues. She has some left side facial palsy, although, some Dr's just describe that side of her face as weak. For example, her left eye doesn't always close all the way. Those are the issues we know of at this point, and to what extent or severity, we do not yet know. After her heart surgery, we will have to reassess her and see what, if anything, the heart repair corrected. We're hopeful that it will fix a lot of what's holding her back, although it's a pretty delicate surgery. Hopefully, we're a one-time surgery too.
In Andi's first seven weeks of age, she's had three surgeries. Two for the choanal atresia -- to open up her nose so she can breathe. Her third surgery was to insert her G-Tube, so we could easily feed & medicate her without putting a tube down her mouth or up her repaired nose. Her AV Canal repair will be her fourth surgery, and most vital.
People ask me all the time, 'what can we do for you?' or 'how can we help?' I am starting to come up with options on how you can help. Give blood. Go to the Red Cross and donate. Andi's already been a recipient of donated blood, and will require more for her heart surgery. Honor her by helping someone else. The need is always there, especially during the summer months. Donate your time and/or money to a children's hospital, or Ronald McDonald House. Donate some baby clothes to the hospital NICU. Quit smoking. Value your own health more than you currently do. I'm sitting here in the hospital watching my baby struggle to breathe, struggle to thrive -- watching her heart pound in her chest. If you're overweight, lose the weight. If you smoke, please stop. If you lose yourself in the wine bottle like I've been doing most nights lately, cut it out. Find alternative, healthy solutions to whatever is keeping you from thriving. I've got this amazing little baby fighting daily to simply live, and you've got what... Your problems are actually SMALL when you have your health. So, stop bitching, stop abusing, and start savoring each minute. THAT is how you can help, how you can honor this lil' bean.
Thank you so much for sharing Andi's story. I can't even imagine how difficult the last year has been for you and your family to go through this and with all the questions from people. I am praying that each day will bring you good news towards Andi's recovery. Reading you blog has really opened up my eyes and I AM going to appreciate each day and change my bad habits in honor of "The Bean"! I will be unable to look at my son without thinking of her struggles. Thank you so much for sharing in your extremely eloquent, honest and Anna style.ReplyDelete
First of all, congratulations on your beautiful baby girl! Andi is absolutely adorable... sweet, squishy cheeks and big, inquisitive eyes... just so cute!ReplyDelete
Second, thank you for sharing her story and, thus, your own. It can be, especially in the early months, a journey that leaves you feeling helpless and alone. If you haven't already, I am sure you will find tremendous support within the CHARGE community via blogger, facebook and the CHARGE listserv on yahoo.
As I am sure you've learned, CHARGE Syndrome affects each person in different ways - - from the range of characteristics to the severity. And, if one thing is certain, it's that you cannot begin, at this early age, to predict how Andi will truly be affected. That is, her potential is most definitely not to be measured by any of these characteristics or predicted by any doctors. My daughter, Gracelyn, is seven and though she is currently struggling with some medical issues, she has surpassed so many expectations that doctors and other professionals projected. This is true with many, if not all, kids with CHARGE. Gracie continues to surprise us and teach us, daily, so much more than we could possibly teach her. I am sure you will find the same with your precious Andi Bean.
Looking forward to following you on your journey with your sweet girl,
i see kristi has found u like she says there are many charge families in the blog world just click on her or me and you will see oru lsits then mroe lsits on our lists i am a charger and i have fb to id love to find you i am 25 years old the charge conf is in orlando next year you might want to consider coming there i also a charge lsit serve on yahoo gorups big hugs ur charger in ausReplyDelete