Aubrie's Journey – Bravelets

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Aubrie's Journey

Posted on October 12 2017

Aubrie's Journey

Meet Aubrie.

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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15 comments

  • Sue Milstein: March 21, 2018

    She’s a beautiful child!

  • Vickie Martin : March 06, 2018

    Your story is a familiar story. I have two daughters who has cystic fibrosis. They were also misdiagnosed for so long that I was worried that they would die before I had a diagnosis for them. I went through many doctors to get someone to listen. They we’re finally diagnosed from a fresh set of eyes who had never seen them before. To make this a short story, it took those fresh set of eyes to finally get a diagnosis.

  • Dona: January 26, 2018

    God heals all in his own way.one may live their healed life here on earth or in the great heavens with their Healer. Either place, we get to share with our Healer’s love.

  • Nikki: January 13, 2018

    So glad she is doing well now, babies get ill so,quick butnalso recover so quickly too!
    I’ve spen5 a lot of time in hospital with my youngest 2 out of 4,
    Will try to keep it very very brief, my daughter now 17 had encephalitis at 4wks old originally diagnosed as meningitis but got sicker. Her fits were so severe lasting 90 mins a time with SARS of 35% on full oxygen. Luckily I didn’t know what says were then! Hr was 250bpm.
    We were told to call family and given 20% chance but she did it. She pent most of her first yr in hospital with the severity of her fits leaving her in status but finally came out the other side, still living the ordeal as it left her deaf but she lip reads, she has social delays and not one friend but just been finally diagnosed with autism and ADHD, she sees faces and hears voices, she has been suicidal in the past and self harmed but we are hopefully past all of that. She was diagnosed with a kidney defect at age 1 (kidney reflux grade 4/5) which had killed one kidneynthat had shrivelled up and she finally had it removed last yr as bp was rising and the other kidney has damage but get by ok on one and will deal with the future when we get there. She has severe OCD’s which control her life but she is the most loving and caring daughter and helps me so much with my disabilities. I passed on elhos danlos syndrome (passed it to 3 of my 4) to her and know she has been referred as I have passed on Behçet’s disease too.

    My youngest was born at 25wks and spent the 1st 4mths in nicu, weighed 660g at birth with all the vent tubes etc and dropped to 540g with all vent tubes. On day 3 we were told they didn’t think he would survive the night as he had 2 brain bleeds, he had NEC (necrotising entorocolitis which is where the bowel dies and kills lots of prem babies and often need a lot of bowel removing), he had sepsis, he had a hole in his heart, they were struggling with his ventilator settings as his blood gasses were not right, it was hell. In the 4mths he had 13blood transfusions, an op at 12 days which was he last chance and wasn’t expected to make it but he did! Came home with severe lung disease on oxygen 24/7, tube fed, says alarm and apnea alarm as would stop breathing all the time and need stimulation to breath and several times got ready to ressus him! He had borderline pulmonary hypotension, elhos danlos syndrome, its been a very long rd but finally ditched the oxygen aged 7, got rid of feeding tube last yr and he is now 14, chest will always be weak but he is ok. He has had 25 operations longest took 6hrs where they did a nissens fundoplication as his reflux was so severe he had pneumonia every 3 wks ish and was ending up in hdu which paitially collapsed lung all the time which woukd never reinflate. So wrapped his stomach around his esophegus so he can never ever burp or be sick as when monitored was being sick 40+ x a day. At age 3.5yrs he still weighed 18lb. He was very delayed in development but he caught up. Diagnosed adhd, OCD’s, Tourette’s, anxiety, and various other bits!
    But he is a typical 14yo boy who loves his computers and hormones raging making him so stroppy lol.
    Only a mum who has been through nicu gets it. After thenyr wit) my daughter then a good 5 yrs in and out with my son I felt a bit institutionalised! Lost my friends as they didn’t want to hear about sick kids and then me getting ill and now being bed ridden and. Ending wheelchairs and carers etc
    . I often wonder as all us mums in nicu wished it was us y)343" and all of us has had serious issues out of a small group of mums I know! 2 sage lost to cancer, one got over breast cancer and lost her husband! Me gettin( I’ll, my best friend had an ass of a husband met man of her dreams then he has been really sick, I’m not religious but did pray incase somwho knows?
    Love to you and 6974 precious baby xxxx

  • Patty Bierer: January 11, 2018

    I believe prayer love and support are very important for a person whether they are 56 or your baby’s age. Your support system will change. Prayers don’t need to be read. Just talking when all quiet is great to do. Over the years your journey will change. I pray that is a good road for all of you. In 2008 I was given a less than 1 per cent
    chance of survival of 2 months and here I am in January
    2018. So miracles do happen. My issue is lung cancer…the lead cause of death in women. Breast cancer is not # 1. Waking every day is a blessing.
    Just as your daughter is your blessing every day.
    Medical research is rapidly expanding. More treatments and new drugs everyday. And being written up in a medical journal is a good thing. Just think how many medical and others will read.
    I will keep your daughter in my prayers. That is the best I can offer
    Her name will be written down. Never give up. I am my oncologists miracle.
    He does not understand why I am still alive. I always say love support and prayers.
    Today with this last restart of cancer I had # 33 chemo treatment. Every 3 weeks. I can never stop chemo. Just switch drugs. Wearing my 66 year old body down slowly.
    Never give up and remember everyday is a good day. And take care of yourself please.
    Patty

  • Gail Faulkner: December 31, 2017

    I believe that it had to be God that healed your baby girl when everything started functioning better ie; her liver. Praise God for his love & mercy and healing for this beautiful baby girl Aubrie <3 God bless you & your family. May God continue to hold your child in his loving protection and arms.

  • Teresa: December 20, 2017

    Your daughter is brave but I want to make sure you know what a strong woman you are. I have a beautiful 9 year old son and a 7 year old daughter. She got very sick quickly and my husband and I rushed her to the ER. Our pediatrician was awesome and met us there. It ended up she just needed a special kind of formula. However, we were terrified for only 36 hours. She’s a healthy, wonderful daughter now and I thank God each day it was an easy fix.

    I’m angered by your pediatricians! However, don’t dwell on the past. I only say this because I knew I would. However, you are “braving” each day and your stories brought tears to my eyes!

    Thanks for sharing your incredible, scary, BRAVE, story with us. I pray she continues with the diet and she thrives. All the best wishes and prayers from Kansas! Hugs!

  • Aimée P. Farrell: November 30, 2017

    Bless you and your husband. Mostly bless that bundle of love and joy you have.

  • Danni: November 25, 2017

    Wow, what a scary and traumatic thing to go through. I’m so happy to read that you now have answers and can breathe easier. Tons of positive vibes and tboughts to you and your baby girl! May she continue to thrive and live a happy healthy life!
    Sincerely,
    Danni

  • Debra Clark: October 20, 2017

    God continue to bless you with this awesome miracle.

  • Lila : October 18, 2017

    Wow what a true Miracle. God is awesome. You as a mother rock !! I had a very sick child and thankfully didn’t stop with first results, either. You are her momma angel. Blessing to Miracle Aubrie and your entire family. Thank you for sharing your strength and courage in the face of being told you’re wrong.

  • Thelma: October 13, 2017

    God gave you this special little miracle and he knows you will take care of her and she will lead a great loving life with a awesome set of parents who give her all the love and care in the world

  • Sarah Maust: October 13, 2017

    Much love to this strong little girl. She is absolutely adorabable and so string. As is mommy and daddy and big sissy. So happy you have found an answer and she can continue to lead a normal life. She is a warrior.

  • Martie Becker: October 13, 2017

    What a powerful testimony. As a Peds Hem/Onc RN, I learned to treasure every moment & live each day to the fullest. Also, I learned to trust my gut when labs and imaging said otherwise. Most importantly, I learned to listen to my parents. Thank you for sharing your story.

  • Karon: October 12, 2017

    Only God could have healed your baby
    That is so awesome ????