Ava Jewell was born in July of 2013 and she is our first child. Our family lives in the Dallas, TX area and we are originally both from Oklahoma. Brandon and Sarah met while in college at the University of Oklahoma and we are already training Ava to be a Sooner fan! Brandon works in healthcare for a diagnostic imaging company doing sales and social media. Sarah is a Licensed Professional Counselor and works with adolescents. Ava is currently an ACTIVE 3-year-old that loves life, is a social butterfly, and wants to play soccer like her Daddy. Her personality is adventurous, thoughtful, humorous, caring, fair, and lightheated. She has already informed us that she wants to be a doctor when she grows up and “help grownups.” She is extremely intuitive and empathetic to others and has a maturity far beyond her years. Her favorite things are bounce houses, taking care of her “babies”, playing at the park, eating cupcakes and sno cones, and she also loves Minnie Mouse and bumblebees.
When we learned that we were pregnant with Ava, Brandon’s first reaction was, “YAY!” Sarah’s first reaction was, “Hmmmmmm (thinking 100 steps ahead already).” However, the tables turned when we learned that our baby was a GIRL! Then Brandon was a little more like, “Hmmmm (thinking 100 steps ahead already).” Sarah’s pregnancy was relatively normal other than one routine ultrasound that showed that the baby’s bladder was not emptying. Sarah was referred to a fetal medicine specialist and during that appointment the bladder was no longer enlarged and had appeared to empty just fine. At 35 weeks, the placenta detached and Ava was born via emergency C-section. Ava did not appear to have any complications initially and everything appeared “normal” for the first 2 days.
By the second day of life, Ava had not yet passed any meconium or stool and she was not tolerating feeds (vomiting green bilious liquid). Based on these things, Ava completed an upper GI test, which revealed intestinal malrotation. Ava had surgery at 2 days old to repair malrotation (through “Ladd’s band procedure”) and a central line (Broviac) was also placed at that time and she began receiving TPN for all of her nutrition. The surgeon noted from the surgery that she also had a “microcolon” as well as “hydronephrosis” of her kidneys.
Ava spent approximately the first 3 months of her life in the NICU and her medical team initially thought her intestinal difficulties were solely related to the malrotation. Our NICU team of doctors and nurses were SO WONDERFUL during our time there and we will forever view them as part of our family. While in the NICU, an additional exploratory intestinal surgery was completed due to suspicions that adhesions may have formed after the initial malrotation surgery. Even after weeks of recovering from the second surgery, she still had no intestinal motility. For the first year of Ava’s lifetime, her bladder functioned fairly normal and she was able to void urine on her own. She began requiring urinary catheterization when she was approximately 1-year-old, after a severe urinary tract infection that resulted in several days in the ICU.
Ava was officially diagnosed with MMIHS at approximately 2-months-old. We were initially told that this rare disorder was “terminal” and that due to it being a genetic condition, any future children would potentially have the same disorder. Devastated does not even begin to describe how we felt when we learned this news about our beautiful baby daughter and thought about the implications for our entire family. Our doctors honored our wishes and always refrained from “sugar coating” things for us and when we asked them how long she would live, they told us that she would most likely not live to see her 2nd birthday. They mentioned some newer treatments such as Omegaven and intestinal transplant, but at the time these did not seem like realistic options. Feeling shattered, shocked and in an ongoing state of confusion, we strongly desired to connect with any other family going through something similar to ours, but did not get that opportunity until much further along in our journey. Our friends and family have been extremely loving and supportive, but could never fully understand what we were going through or what we would face in the future. Connecting with other MMIHS families has been our saving grace.
At approximately 3-months-old, Ava transferred her care from the NICU to the Gastroenterology Unit at Dallas Children’s Medical Center with an AMAZING team (Gastroenterologist and a GI surgeon) and we trust and respect the team wholeheartedly. Once Ava transferred to Children’s with her GI team, she had exploratory intestinal surgery to again rule out if any of her difficulties were mechanical in nature. At that time she also had a G tube placed to allow us to drain her stomach contents without having to have an NG tube in her nose or mouth. Ava was inpatient at Children’s for approximately a month and during that time we were trained on how to conduct all of her medical care at home, including central line dressing changes, hooking up and disconnecting TPN and IV medications, caring for and changing out her G button, etc.
When Ava was almost 4 months old, she was finally discharged from the hospital and we brought our precious baby girl home for the first time. Although it was so amazing to have Ava at home, it was very overwhelming to know that us as parents were solely responsible for all of her care. As months passed, we became more and more comfortable with doing her care at home and now most things just feel routine. We are fortunate to have wonderful home health nurses that care for Ava during the time that both of us are at work.
Ava was evaluated and listed for intestinal transplant at Children’s Hospital of Pittsburgh in February of 2014. Initially she was listed for small and large intestines at “status 2.” In August of 2016, her transplant team made the decision to add liver and pancreas to her listing, which automatically bumped her up to “status 1.” We have also partnered with the Children’s Organ Transplant Association (COTA) to assist with the financial piece of transplant related expenses. At this point, our family travels from Dallas to Pittsburgh once every 6 to 12 months to meet with her transplant team. Her weekly blood labs are monitored by her local GI doctor and her local team communicates regularly with her transplant team in Pittsburgh.
Ava’s liver functioning has fluctuated throughout her life and it is always a challenge since she is 100% TPN dependent and her body does not tolerate any feeds. She eats some foods by mouth and drinks water (primarily to keep up oral skills), but none of it absorbs and we drain all the contents out of her stomach every few hours. She has responded very well to a research medication called Omegaven, which is an alternative to traditional lipids. Without Omegaven, we truly believe that Ava would have either required transplant much earlier in her life or she would no longer be here with us today.
Daily life is challenging, but has become more and more manageable as time progressed. She currently has a Broviac for 18 hours a day of TPN, requires urinary catheterization and has a G button. She has not yet been required to have an ostomy. Our motto is that Ava needs to LIVE her life and we try to expose her to as many experiences as possible. She attends church weekly, goes to the park, rides carousels, participates in holiday activities such as trick-or-treating and Easter egg hunts, attends birthday parties and other social events. Typically she is hospitalized several times per year, most often due to fevers from “normal kid viruses” but with a central line that equals a hospital stay. She’s also been hospitalized due to urinary tract infections, the need for replacing her central line on one occasion, and one occasion of a line infection.
The biggest things that have helped our family to manage this ongoing battle is our faith in God, the support of family and friends, support from the other MMIHS families, and Ava’s incredible care team. We are so proud of our fierce and loving Ava and we know she will continue to fight through the challenges of MMIHS in order to continue on the path that God has designed for her. We have created a Facebook page called Team Turman to share Ava’s journey and keep all of her supporters up to date on her progress. “Be joyful in hope, patient in affliction, faithful in prayer.” (Romans 12:12)