Benefits of Early Referral to Pediatric Palliative Care for a Child With a Rare Disease.

Abstract

* Abbreviation: PPC — : pediatric palliative care Myhre syndrome is a rare connective tissue disorder. Signs and symptoms include fibrosis of the skin and internal organs (heart, lungs, gastrointestinal system), intellectual disability, distinctive facial features, and skeletal abnormalities.1,2 Myhre syndrome is caused by a mutation in the SMAD4 gene. It typically occurs for the first time in an affected person.1 A clinical case is described in a child whose family received a diagnosis of Myhre syndrome after he died. Although for some families the specific diagnosis is important, this mother did not feel that the information would have changed the course of her child’s life. We outline the benefits of palliative care supporting the child and family with attention to individualized symptom management, improved communication, and support making difficult decisions. My son Connor had an undiagnosed condition affecting several body systems including his airway, his heart, and his development. He also had subtle features including small hands and feet and skin that appeared thicker or fluid-filled. Although he was managed by an excellent pediatrician, the silos of medical care in our community at the time meant that crises were addressed by multiple different people on different teams, each of whom had an incomplete knowledge of Connor’s specific medical issues. The research program (Care4Rare)3 at the Children’s Hospital of Eastern Ontario in Ottawa, Canada, performed whole exome sequencing of Connor’s DNA. They identified a mutation in the gene SMAD4 . This specific change (c. 1499>C, p.Ile500Thr) has been seen in other children with a multisystem condition known as Myhre syndrome; from a genetic standpoint, this was molecularly confirmed … Address correspondence to Christina Vadeboncoeur, MD, FRCPC, Children’s Hospital of Eastern Ontario, 401 Smyth Rd, Ottawa, ON K1H 8L1, Canada. E-mail: vadeboncoeur{at}cheo.on.ca