This is my first try at blogging, so let's hope I don't ramble too much. Let me start with the reason I decided to start this blog. My sweet daughter Elaina was born on January 11, 2008. She weighed in at 5 lbs 3 oz. Within a few moments of her birth it was obvious that something was wrong. She didn't turn pink. The first thought was that her lungs were underdeveloped since she was a month premature. However, it was soon discovered that it was something much more severe. Elaina was rushed by Life Flight transport to Primary Children's Medical Center (PCMC) a mere 3 hours after her birth. Primary Children's Medical Center is located 60 miles north of me in Salt Lake City, UT. Once in the Newborn Intensive Care Unit (NICU), it was determined that she had a severe heart defect called "Tetrology of Fallot with Pulmonary Atresia with an intact Ventricular Septal Defect". Basically, the valve and artery above that connects the right side of her heart to her lungs isn't open and functioning normally. This means that the normal way for her heart and lungs to circulate oxygenated blood to her body just isn't possible. It's actually much more complex than that, but I'll stick with the simple explanation for now. She also has a rare (1 in 4000) chromosomal disorder called DiGeorge Syndrome. For this we'll use the longer version, I've copied and pasted a really good definition:
"DiGeorge syndrome is a rare congenital (i.e. present at birth) disease whose symptoms vary greatly between individuals but commonly include a history of recurrent infection, heart defects, and characteristic facial features.DiGeorge syndrome is caused by a large deletion from chromosome 22, produced by an error in recombination at meiosis (the process that creates germ cells and ensures genetic variation in the offspring). This deletion means that several genes from this region are not present in DiGeorge syndrome patients. It appears that the variation in the symptoms of the disease is related to the amount of genetic material lost in the chromosomal deletion."
As far as Elaina goes, we think that the DiGeorge affects not just her heart, but her immune system. Apparently her thymus gland is missing. They also think that her parathyriod glands are either defective or missing, so she isn't able to absorb calcium well and is on medication to boost her calcium levels. I am scheduled to follow up with the Genetics dept at PCMC, hopefully they will be able to give me a little more information, so I'll update on that in the future.
OK. I've covered her diagnoses, now for more of the story. When Elaina was 14 days old, she had her first heart surgery. She had a BT Shunt put in to help her body circulate the blood from her heart to her lungs. She's got a 2 inch scar under her right arm. She did really well in surgery and recovered fairly quickly. She came home from the NICU on February 10, 2008 just one day before her due date. She got to be at home for a full 12 days before we ran into problems. We spent a weekend at Utah Valley Hospital under "observation" for either RSV or some other type of illness. We were sent home when the on call doctor thought she wasn't getting worse and decided that he needed the room for another patient. Well, she was getting worse and after a horrible night at home, she decided that breathing was just too hard to do when you have congested sinuses, so she stopped breathing all together. Lucky for me I'd taken her back to the doctor and had been re-admitted to hospital when she made this decision. Unluckily for her, she had to be intubated and take a trip by LifeFlight helicopter to PCMC. She was diagnosed with a severe case of RSV. She spent 12 days in the Pediatric Intensive Care Unit (PICU) on a ventilator and another 8 days in recovery. She was sent home on oxygen and with a monitor. She got to be home for almost 3 weeks when she started having more problems. She'd never quite gotten over the congestion from her RSV. (I've been told that the mucus can linger for 6 weeks or longer. ) So when she tried to eat, she'd choke on the mucus and throw up. Some of these incidents were mild, while at other times she would really struggle to throw up the mucus, and turn colors until I suctioned her with my handy blue bulb syringe. Well, one night she started throwing up and couldn't stop. She must have aspirated some and stopped breathing. So I called 911 and she ended up taking another helicopter ride up to PCMC. She spent 6 more days intubated on a ventilator in the PICU. Poor baby was turned into a human pin cushion as they tried to figure out what was causing so much mucus. All of the tests came back negative, so the doctors just figured that it was left over from her RSV. This time when she was extubated, I noticed something odd. Her eyes were being wacky and her left arm was flailing in a funny way. I asked the resident if she might be having a seizure. He didn't think so (only half her body was flailing...). After this happened 3 or 4 times more (and I nagged and pressed the issue - if it's not a seizure then what is it?!?!?!?) it was decided to put her on an EEG overnight. Sure enough, she was having seizures. We're still not exactly sure what the cause is, according to an MRI there is some swelling in her brain. This could be a direct result of the oxygen deprivation she experienced when she stopped breathing during her bout with RSV. Her ionized calcium levels were also low, so that may have contributed as well. Neurology isn't sure if there will be any lasting brain damage from the swelling, again I follow up and will send updates in the future. Anway, she stayed another 6 days in recovery. SO, she's finally home again. She's on lots of meds for her calcium, seizures, reflux, etc., oxygen with monitor and she also has an NG tube. This small tube goes down her nose to her tummy so that I can administer medication as well as feed her. She takes most of her feeds by bottle, but sometimes she's too exhausted to finish, so I have to put the remainder down her tube. The tube needs to be changed at least every two weeks. They taught me how to do it, but I'm sure grateful that I have a Home Health Care nurse that comes once a week that can do it for me! Talk about nerve wracking!
So now you have the long version of the story. Or maybe it's the condensed long version, it has been 3 and a half months after all! Her next surgery will be some time this summer, probably August or September. I'll know more when we go to see the cardiologist on May 29.
In the meantime, she's getting more beautiful as the days progress, and I think she loves her big brother as much as he loves her.
