Isla’s Story

On March 31st, 2021, our daughter, Isla Marie Smith was born 6 weeks premature due to a severe intrauterine growth restriction (IUGR). Initially, we believed this growth restriction was caused by a placenta malformation and all Isla needed to do was learn how to eat on her own, gain some weight, and get off oxygen so we could take her home.

As the weeks went on, Isla only got sicker. She needed more oxygen, couldn’t take a bottle, became agitated all the time, and couldn’t gain weight. After consults from every specialty and numerous infectious workups, we enrolled Isla in a whole genome sequencing research study and received her diagnosis at 4 months old.

Isla had what’s known as MIRAGE Syndrome, a rare genetic disorder caused by a mutation of the SAMD9 gene on chromosome 7. She was patient 45 to be diagnosed in the world, and very little research had been published about her syndrome. MIRAGE is an acronym that stands for (M)yelodysplasia, (I)nfections, (R)estriction of Growth, (A)drenal Hypoplasia, (G)enital Phenotypes, and (E)nteropathy. Every symptom Isla had that didn’t make sense in a traditional diagnosis was found in MIRAGE Syndrome. With this diagnosis, we also learned that Isla’s life expectancy was limited, with almost all other patients with a confirmed diagnosis of MIRAGE syndrome dying before 2 years old.

While Isla’s course wasn’t set in stone, this diagnosis gave us realistic expectations about what our daughter’s life would look like. We decided to spend whatever amount of time we had left celebrating her and loving her. Isla spent her days playing dress up, going for stroller rides in the courtyard, having Nancy Drew read-a-thons, being held and bounced by her parents and nurses, throwing Taylor Swift dance parties, having beach days, themed photoshoots, bubble bath parties, and dressing up for Halloween every day in October until her last. There was not a moment when she wasn’t doted on, hugged, held, or loved.

On October 22nd, 2021, Isla told us she was ready to go. As the sun came up, she passed away peacefully in our arms on October 23rd, 2021. For a while, it felt like we died, too - but Isla has shown us she is always near, and she is just as alive today in our hearts as she was on earth. We feel called to serve other bereaved parents, and we have dedicated our lives to sharing her story and supporting other families like ours.

After her death, we felt like we lost our support system. The NICU doctors, APPs, nurses, RTs, PTs, OTs, and resource specialists were no longer supporting us day to day. Losing a child is isolating, and the emotional toll of this loss affects every aspect of a bereaved parent's life. We believe access to counseling services, financial assistance, and peer support are crucial in empowering bereaved parents to grieve openly, celebrate their child, and feel less alone.