Compassionate care in our NICU helps newborn grow through rare disease diagnosis

Every person’s healthcare journey is unique, shaped by their own experiences, challenges, and triumphs. Walker, the precious third child of Ashley and Tanner Lother, was born with Prader-Willi syndrome (PWS), a rare genetic multisystem disorder. His story reflects the strength of a family, the dedication of his M Health Fairview healthcare team, and the power of hope in the face of uncertainty.

Walker's journey began at The Birthplace at M Health Fairview Woodwinds Hospital. After a birth marked by complications, he was transferred to M Health Fairview Masonic Children's Hospital when he was just four days old. His parents were thrust into a whirlwind of emotions, grappling with the unknown and fearing for their newborn's health.

After a series of tests over the course of several weeks, Walker was diagnosed with Prader-Willi syndrome, a genetic condition characterized by a range of symptoms in infancy, including reduced muscle tone, delayed motor milestones, hormone deficiencies and feeding difficulties.

Prader-Willi syndrome, one of more than 7,000 recognized rare diseases, presents unique challenges for affected individuals and their families. Early intervention and a collaborative approach involving various specialists are crucial for improving the overall health and quality of life for those with the condition.

During their month-long stay at M Health Fairview Masonic Children’s Hospital, the family found solace in the compassionate care provided by M Health Fairview Neonatologist Benjamin al-Haddad, MD, PhD, who also serves as an assistant professor with the University of Minnesota Medical School. Walker’s family loved “Dr. Ben” for his compassion, his partnership in decision making, the clarity he provided, and the way he listened to their thoughts and concerns, Ashley said. His approach made them feel involved in every update and decision, even the challenging news about Walker’s diagnosis.

"Parents always want to know, ‘what does this mean for my child in a year, or 10 years?’ Being in that state of uncertainty for a longer period of time is really hard for parents,” al-Haddad said. "I remember Walker was a really sweet baby and we just worked through each day with his parents who were always by his bedside. They asked a lot of really good questions and told me what they needed to hear. It’s about supporting families in uncertainty when things are really hard."

Part of al-Haddad’s work with the family included ensuring Walker was growing well and talking with his family about how to support his development.

"Their developmental milestones start at around 2 months,” al-Haddad said. “The goal of monitoring for those milestones is to make sure that the babies have all the therapies that they need to work towards important goals. We’d expect a 6-month-old baby to be able to sit, a 9-month-old baby to crawl, and eventually be able to stand around 12 months. Those are some motor milestones that we would expect to be a bit delayed for babies who have Prader-Willi Syndrome."

Holly Schifsky, Walker’s occupational therapist, played a vital role in the Lother family's journey. "I remember their family very fondly because we spent a lot of time together," Schifsky said. "I met Walker on his first day of life and was with him through his entire stay in the NICU."

"Ashley is an ultrasound technician, and I think one thing that can be challenging is when one parent who has a medical background often feels the burden to interpret everything for their family and for their spouse,” Schifsky said.

Holly's presence brought Ashley and Tanner both reassurance and empowerment. She not only equipped the family with practical skills – like dressing and changing a baby with Prader-Willi, but also provided emotional support, enabling them to navigate the challenges ahead with resilience and strength.

"I wanted to really just allow Ashley the space to grieve the loss of expecting a typical pregnancy. None of this was diagnosed prenatally and was very shocking to the parents," Schifsky said. Establishing trust with both parents was central to her approach. "We would do a lot of developmental and oral feeding work with Walker to try to narrow the gap between what his abilities were and what our expectations were for him in his first couple of months of life."

“That support in times of uncertainty is essential,” al-Haddad said. Medical professionals play a pivotal role in providing not only medical expertise but also compassion and understanding. Their guidance helps families navigate the complexities of a rare disease and gives them the tools to face challenges with courage. The Lother family's experience highlights the strength of love and the importance of a multidisciplinary approach in providing comprehensive care.

“Walker completes our family such a special way,” Ashley said. “Our family pushes him to reach new milestones, but we also try really hard to treat him like any other kid. We love him so much.”