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Posted on October 12 2017
She was born May 31, 2017 a perfectly healthy and beautiful baby girl. Our second daughter. At 2 weeks old i started to notice she seemed like she was getting sick. She was very sleepy, barely wanting to eat, and spitting up a lot more than normal for her. She had been having trouble with her weight so we were seeing the pediatrician pretty regularly for it so at the next appointment i brought up my concerns. I was told without hesitation she had reflux and needed medication for it. I went home and was just sure this wasn't the case. I called back and asked for another appointment the next day with a different doctor for another opinion. This time i was told she seemed to have trouble digesting milk protein and that switching her to a soy formula would help. And if in a few days i didn't notice a difference we'd try something else.
So a few days when by and she was spitting up even more and beginning to get diarrhea and it never got better. So we were back for another weight check and switched to yet another formula, a hypoallergenic formula and told she had blood in her stool which was a sure sign or milk protein intolerance. I had brought up the idea that she could be sick or have an infection and they insisted that wasn't the case. We went home hopeful however she got worse. She was now spitting up even more and having even more diarrhea. I took her to our local emergency room that night to be told after no tests no nothing that she was just fine. And we were sent home quickly. She barely ate all night. When she woke up the next morning she ate and started vomiting and having more severe diarrhea. I called the pediatrician again. This time i asked to speak with a long time doctor at the practice who i saw as a child who my mother trusted. Once again i was assured she was fine. I made the call that it was time to head to children's hospital of Pittsburgh to the ER because she was not fine and i knew it. She was 3 weeks old at this point. We got there that afternoon and immediately her blood sugar was testing and it was dangerously low on the verge of seizures and unconsciousness and she was severely dehydrated.
After hours of poking to get an iv and every test and scan imaginable we discovered that her white blood count was high indicating an infection. But we didn't know what kind yet. We knew we'd be staying i expected it when we went in. But I didn't expect it to turn out like it did. I was relieved to know we had found a cause. After 36 hrs her cultures turned positive for staph in her blood. She was septic and i was told over and over she was fine. I was horrified knowing what could have happened had i listened to her pediatrician. They told us they would need to place a picc line for long term iv antibiotics and that shed be there another week. She was admitted to the NICU and i thought a week was the end of the world. I had seen her go through so much but little did we know the worst was yet to come. A week went by. She seemed to be doing so good. A day before our expected discharge her arm started to swell where her line was placed. And I was told she would need a blood transfusion.
More terrifying news.
They were going to put a strangers blood into my baby. But then they ordered and ultrasound for her arm and discovered a blood clot. They said this would only set us back a day or so once they got a treatment plan going. Wrong again. In the process of testing her for the treatment they discovered that she was having severe coagulothopy. Her tests showed that she was excessively bleeding but also excessively clotting. Which i was told and it's obvious, is impossible. They were positive it was her line throwing the results off. They chose to pull it and retest sure it would be fine. Unfortunately the labs were right. So we now were seeing hematology for a possible blood disorder, and hepatology for a possible liver disorder since the things the body uses to clot and bleed are made by the liver.
After a slew of testing we discovered her liver was failing and wasn't making the properties her body needed to bleed or clot. They ordered a liver biopsy which reveal severe liver damage. So severe she was evaluated for a liver transplant. She had another picc line placed and it eventually became infected and also clotted. The clot was in her neck which caused her to swell so much it closed her airway and she was intubated for a few days. The line was removed and a 3rd was placed for the remainder of her stay. No one thought she could get better without transplant because her liver condition was so severe. She was tested for all things known that could cause what was happening and tested negative for everything. Genetics was then brought in to start testing for a genetic disorder causing the issues. She was being given many blood transfusions and blood products to keep her stable and help her body get what the liver wasn't making.
Over time for no reason with no explanation, she started to get better. Her liver function was improving on its own. We underwent some sequencing. Genetic testing where they look at every gene in her, myself, and my husband to see if she inherited something. Eventually all of her tests were coming back normal and she was well enough to go home. After 5 and a half weeks, 40 days she s discharged. She has been out for 2 months now and is currently 4 months old and is doing well.
She remains stable her liver function is normal and she is happy and healthy like any other baby. We are still waiting for the genetic results although her doctors aren't expecting any answers from it. They have no idea what happened or why. They have never seen anything like this before and consulted many outside doctors who also had no ideas. I was told it was such a strange case they may ask to write about her in medical journals. She was not listed for transplant and hopefully never will be since her liver is doing its job and she's doing so well.
What I thought would be a trip to the ER turned out to be the most overwhelming and intense ride of our lives. Ii stayed every day and night of the 40 days with her. I slept, ate, showered, even did my laundry there. I don't know how we made it. She is an incredibly strong little girl who is proving everyone wrong.
She truly is BRAVE. My NICU baby. My liver WARRIOR. We don't know where this journey will take us or where it will end, if ever. But we continue to fight and preserve and now i have a beautiful representation of our story to wear every day.
Aubrie was officially diagnosed 2 days ago October 10, 2017 with a rare genetic disorder called Hereditary Fructose Intolerance. Her liver is missing an enzyme that breaks down fructose and other sugars causing it to build up and become a toxin and destroys her liver. We have learned this condition is something she inherited the same recessive gene from my husband and I who by chance are both carriers making it a 25% chance any future children will also have the disease. Thankfully there are no mental or physical disabilities that go along with this. There are no medications, or any other cures or fixes. She will live with this forever and have to follow a very strict diet. As long as she sticks to it she will remain perfectly healthy and live a happy normal life without any symptoms
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