Gabrielle's story...
Everything started within several hours after Gabrielle was born. My mom fed her her very first bottle just after birth, and she drank it as if she had eaten before. She was a pro already! What lucky parents we are! We noticed later on that evening that she started to have alot of stooling, and we were having trouble trying to get her to drink her bottles. We told the nurse, and because of being exhausted from just having a baby, she was kind enough to work with her and take her to the nursery for us that night. Early the next morning, the nurse told us that because of her stooling during the night, she most likely had a lactose allergy, and they switched her to the soy formula. Makes sense, my other daughter had a lactose allergy as well. So later that evening we had the clear to be discharged home as long as the baby followed up with the pediatrician's office the next day. Things at that point seemed to be going a little better with the new formula.
Later on the night we started to notice again that her stooling patterns were picking back up. We told the nurse practitioner at her appointment the next day about the formula change, and loose stools, and were told this was normal for a new baby. She also had stated she looked slightly jaundiced but that would clear up as she continued to feed and flush it out of her system.
Three days later is when it happened. It was getting on to eleven at night, and the baby was showing signs of gas, fussiness and more stooling. We assumed it was the formula not agreeing with her and continued to watch her closely that night. Early the next morning, we were able to get her into the pediatrician's office. He had also assumed from our phone conversation that maybe the soy formula wasn't agreeing with her either. When Gabrielle was born, she weighed 6lbs, 12oz, when we got her to the pediatrician's office that morning she had dropped down to 5lbs. The doctor couldn't believe it and had the medical assistant weigh her again to be sure. When we told him Gabrielle had been eating just fine until last night, he knew something GI related must be wrong. She also started to show signs of heavy breathing patterns, and severe jaundice. He immediately sent us out the door and on our way to All Children's Hospital.
Gabrielle dehydrated so quickly that we couldn't believe it. The nurse's and doctor's struggled to find veins to draw labs on her and to try to get an I.V. going. Her veins shrunk away and her blood had turned to a thick sludge consistency, making everything nearly impossible. We were terrified, there's no other way to put it. At that moment all we could do is pray to god to save our daughter. They had to call a nurse in from the NICU floor to to place an IV into her forehead. Once they finally were able to get fluids into her, she was then transferred to the Pediatric Intensive Care Unit. She then had an umbilical catheter placed into her tummy for fluids and IV draws, and more ultrasounds and xray images were later taken. She was also put under the bili lights to help bring her jaundice down. The next day her umbilical catheter stopped functioning and she had a picc line placed into her left leg.
All the doctors are completely puzzled by what could be causing Gabrielle's diahrrea. She wasn't on anything but IV fluids and yet she still continued to have the excess stooling. Everytime we tried to feed her things got worse, didn't matter how gentle the formula was nothing seemed to agree with her. The doctors had decided to pull the feedings from her and put her on Total Parenteral Nutrition. The stooling was still alot but had lessened without her eating. After much more blood work, now checking for diseases such as Galactosemia, where the body can not process any galactose and can cause long term complications as learning disabilities and speech problems, we were still at square one. Then just shy of two weeks, the Gastroenterologist finally got the "okay" from cardiology to be able to perform a EGD and Colonoscopy on her. She had several biopsies taken which would take a while to come back. In the mean time Gabrielle has become stable, her heart rhythms now normal, she was finally transferred to a regular floor in the hospital. We were finally able to hold her again without, what felt like "a thousand wires" hooked up to her.
After about 3 weeks of waiting, the Gastroenterologist told us they had to forward her biopsies out to a specialist in Philadelphia for another opinion but they think she might have some form of autoimmune enteropathy that affected her small bowel. They want to try her on steroids to see if that will help her body to heal the small bowel and try her once more on feedings in about 3 weeks.
Soon days turned into more weeks with no results back from pathology. Gabrielle in that time frame had suffered two blood clotts in her left leg, which caused massive swelling and then had her picc line placed into her head. Her picc line stopped working after two weeks and she then had to go into surgery to have a Broviac catheter placed into her chest.
The doctors finally attempted to try her once more on formula, and again failure. Everything day to day was such a emotional roller coaster that felt like a diagnosis was never going to be made. My husband and I spent our entire maternity leave together in the hospital at Gabrielle's bedside. With how smooth the pregnancy and delivery went we couldn't believe that this was actually happening.
Finally one day I get a phone call from the Gastroenterologist while I'm at work. He told me a diagnosis was made and it was one he wasn't to familiar with. He said that Gabrielle's only cure for Microvillous Inclusion Disease would be a small bowel transplant. He also wants to send Gabrielle down to Miami right away to meet the transplant team and get on the list. He also told us that this disease is extremely rare and the doctors there would be more familiar with it. We are extremely lucky we found out, in most cases it's to late for some parents babies that are born with this disease and they usually pass before a diagnosis even gets made. Once the dehydration kicks in everything goes downhill really fast. We are so fortunate to have Gabrielle still with us and she is now awaiting for her transplant surgery after her 1st birthday. Her story is only just beginning...
