The following story was written by Denise C., a physician, a Boyer parent, and, most importantly, mother to Sophia (4 years) and Sam (2 years). After an uneventful pregnancy with her second child, Sam, the family ultimately learned that he had a rare genetic condition called Kabuki syndrome. They were referred to Boyer, where Sam has received early intervention services, and where Denise and her husband have benefited from the support and guidance from the Boyer community of therapists, educators, their family resources coordinator, Boyer’s social worker, as well as other Boyer families. This is her story about Sam’s journey during his first years of life, and the role Boyer has played throughout the ups and downs.
hen Sammy was born, we were completely taken by surprise when we discovered he had multiple congenital anomalies. It was an uneventful pregnancy, but immediately after delivery we noticed was that he had a severely under-formed left ear. This prompted the physicians to look for additional anomalies. The following days and weeks were extremely emotional and stressful for our entire family, and it seemed like every day we would find out something new: after being diagnosed with microtia (the abnormal formation of his ear), we learned that he had a cleft in his soft palate, a heart defect, hearing loss on both sides and hypothryoidism. Weeks later, we were also told that he had craniosynostosis – a premature fusing of the skull bones – which would require major cranial surgery. All the while, Sammy was having significant difficulty eating, and ultimately had a feeding tube placed. With my husband and I both being physicians, we knew all too well that each of these conditions would have a major impact on his health and development. At this point, with Sammy being just a few months old, we already knew that we would have at least two major surgeries, and would potentially be dependent on a feeding tube for years or longer. Moreover, we knew that with his number of abnormal congenital findings, he was more than likely to have some yet undiagnosed genetic condition, despite all the preliminary genetic tests having returned normal. We were also aware that we might never find a unifying diagnosis.
As we were coming to grips with the possible long term implications of these findings, we were also dealing with the challenge of having our beloved newborn tethered to lines and monitors in the NICU, rather than being at home with the family. All in all, Sammy was in the NICU for 33 days, and afterwards has had many more medical complications and subsequent hospitalizations. We had some very dark moments, not being sure of what his prognosis would be, all the while trying to cope with the stressors of being in and out of the hospital, in addition to juggling work and home life, and caring for young daughter.
We are so thankful we had the support and help from so many family and friends during that time. It was also during those early days that we became connected with Boyer Children’s Clinic, which has become a central source of support for us. It was at Boyer where we found a home. Sammy started receiving his therapies, and it also became a place of support for us as parents. We were able to join the pilot Boyer PEPs program – which focused on children with feeding challenges – and over time we have participated in a number of workshops for parents of children with special needs. Through these events we have made connections with other families going through similar challenges, and we are grateful to have a place to talk openly and share our struggles. We have gained strength and wisdom from these groups, especially during a time where we felt so isolated from our regular circle of family and friends, who were all supportive but who didn’t understand what it means to have a child with a disability or special needs.
For us, Boyer has been so integral to our journey. We are fortunate to be working with amazing therapists and teachers that continue to help Sammy with feeding therapy and developing motor, speech and language skills. He was eventually discovered to have a rare genetic condition called Kabuki syndrome that seems to encompass many of his symptoms, but not all. Sammy has seen many bumps in the road, with major complications after both of his surgeries, but he has persevered. And now, with the help of Boyer, he is now a thriving 2 year old who is blossoming and making so much wonderful progress! He is now eating more by mouth and is making progress on weaning completely off the Gastric tube, and is working towards taking his first steps by himself! Everyone we have worked with at Boyer has been nothing short of awe-inspiring, providing their expertise as well as support to each child and family they work with.
By sharing our story, I hope we can not only help others, but also bring more awareness to the needs of children with disabilities. I would encourage other families that have a child (or children) with a disability, who might be facing similar challenges, to reach out and take advantage of the many opportunities to learn from the educators and therapists at Boyer, as well as participate in the many programs that are designed to provide support and education for families.
Like so many other parents, prior to having our child with special needs, we had very little personal experience with chronic illness or disability. While we were used to treating patients with chronic medical conditions, we now suddenly found ourselves on the other side, constantly in the hospital and doctors’ offices, but this time as the parents of a medically complicated child. It has been a humbling experience and has forever changed us an individuals, parents and as physicians.
By providing an insight into what this experience has been like for us as a family, I hope that people in our community might identify with our story, even those who may not have a personal connection to someone that has a child with special needs. Being faced with the unexpected challenge of having a child with a chronic medical condition was a difficult adjustment, and through this journey there have been – and will continue to be – challenges. But it has also been a process that has brought us a lot of hope and joy, and we are so grateful to have Boyer Children’s Clinic be such an amazing resource for us.”