When Sarah and Brandon found out they were expecting their first child, they were overjoyed. At 35 weeks, Ava Jewell was born via emergency C-section after the placenta detached. Sarah and Brandon spent the first 24 hours getting to know their baby girl, but on Ava's second day of life, warning signs emerged. Ava had not passed any bowel movements and was vomiting bile.
Tests showed that Ava had intestinal malrotation, meaning her intestines were essentially in the wrong place. At just 2 days old, Ava had surgery to repair the malrotation and had a central line placed. During the procedure, the surgeon noted that Ava had a microcolon as well as hydronephrosis of her kidneys. She began receiving all her nutrition from the IV line since she could not hold down food.
Ava spent the next few months in the neonatal intensive care unit at a Plano hospital. Test after test ruled out diagnoses, and eventually it was determined that Ava had Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS), an extremely rare condition which affects the bladder, GI system and kidneys.
One of Sarah and Brandon's requests was that doctors not sugar coat anything for them.
"We told them to give it to us straight in our NICU meeting," Sarah says. "They said it was a terminal diagnosis, a genetic disease that we could pass on to other children when we had them, and that Ava most likely would not make it to her second birthday."
"A ray of hope" at Children's Health℠
Soon, Ava's providers recommended transferring Ava to Children's Health. The Intestinal Rehabilitation team specializes in patients with intestinal failure, short bowel syndrome and complex GI disorders that affect normal nutrition and would be a great fit for Ava's condition. Ava moved to the GI floor at Children's Medical Center Dallas, where she met Nandini Channa, M.D., a pediatric gastroenterologist at Children's Health and Associate Professor at UT Southwestern.
Dr. Channa offered the family hope, and a plan to manage Ava's rare disorder.
"I understand that our first team of doctors gave us news based on the information and research available to them," Sarah says. "But Dr. Channa was a ray of hope, especially since she was already caring for other kids with the same rare disorder. She made sure we were connected with them, so we could share information and lean on each other for support."
Due to her urological issues, Dr. Channa worked closely with Micah Jacobs, M.D., a pediatric urologist at Children's Health and Associate Professor at UT Southwestern. Even though she spends 16 hours a day connected to a Broviac catheter for total parenteral nutrition (TPN), her family desires to have her live life to the fullest. She looks and acts like any other 5-year-old, which can be difficult, says mom. "It's hard to describe just how sick she really is when it doesn't show on the outside."
Ava's strength inspires others
Although daily life can be challenging, Ava's parents say their day to day has become more manageable as time has passed. Ava is able go to the park, attend church weekly, enjoy birthday parties, other social events and more.
Still, Ava is typically inpatient at Children's Medical Center several times a year, as any fever or infection from a typical childhood illness requires a hospital stay with a central line.
"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," says Sarah.
Sarah is passionate about passing on that support. She is a board member for the MMIHS Foundation, working to raise awareness of MMIHS and provide resources for other families affected by it. Dr. Channa has helped with this effort by creating a support night for parents of children with intestinal failure.
Ava is now listed for a multivisceral transplant that could include the large intestine, small intestine, liver, pancreas and partial stomach. Meanwhile, Dr. Channa closely monitors her care plan and stays in constant contact with all her providers.
"Since we don't know exactly when she will need the transplant, we are uncertain of what organs will be included," Ava's dad, Brandon, says. "The liver function will be the main indicator of when and will most likely be the cause of the transplant."
"I have 1,000 percent trust in Dr. Channa because she is so in tune with our care," says Sarah. "She translates the treatments for this rare disorder into real-life applications, because what's the point if Ava doesn't have a good quality of life?"
The Intestinal Rehabilitation Program at Children's Health℠ is the only one of its kind in North Texas. We provide integrated care, including both inpatient and outpatient management. Our multidisciplinary team includes gastroenterologists, surgeons, nursing, wound/ostomy, dietetics, speech therapy, neonatology and social work. Learn more about our program and services.
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