Meet Miss Emily “Emmy” Jane. Sweet Emmy has a genetic condition called Trisomy 18 (similar to Avonlea’s condition of Trisomy 13. Both Avie and Emmy have an extra chromosome; Avie has an extra 13th while Emmy has an extra 18th. Trisomy 21, where a child has an extra 21st chromosome, is also known as Down Syndrome, just to give you some genetics context). We met Jason and Kristen when they were referred to us back in June by Be Not Afraid, a support organization that served us tremendously after we received Avonlea’s prenatal T13 diagnosis, and has now been serving Jason and Kristen ever since they received Emmy’s prenatal diagnosis. We took maternity photos for this family back in June, and were honored when we received a text after Emm’y birth, asking if we would come to the hospital and photograph her hospital baptism.
Jason and Kristen discovered after Emmy’s birth that her heart condition is more complicated than the ultrasounds had originally predicted. Emmy has a malformation of the heart, referred to as a PDA (<- click to read more about this condition from the America Heart Association). When this PDA closes in time, Emmy will die. Jason and Kristen were told what to expect when the PDA begins to close, and doctors anticipated this would happen shortly after birth. Well, Emmy was born July 26th, and here we are: she is 3 months old, is growing and gaining weight, and has proven that she is a fighter! Knowing how strong she is, Jason and Kristen are fervently searching for a pediatric heart surgeon who will operate on Emmy’s heart, to repair the PDA in a way that will prolong her life! They have been turned away by many surgeons already, simply because of Emmy’s Trisomy. Unfortunately, as Brian and I have come to know all too well on a personal level with Avonlea, there is very little research being done on Trisomy children. There is not enough recent or accurate data out there showing how many kids like ours are living long, full lives into their teens and twenties with the right medical interventions and family support. Many doctors are still using data from the 60’s and 70’s to guide their medical recommendations for children born today, which is heart-breaking!
Jason and Kristen feel the clock ticking to find a surgeon who will see past Emmy’s Trisomy diagnosis, look at her specific case, see how strong she is to have made it this far, and agree to perform the surgery! A child born with a PDA but without a Trisomy diagnosis would be eligible for this surgery, and Emmy deserves the same chance at a life with her mommy and daddy, who love her so fiercely. Please share this blog-post on social media if you’re able, to raise awareness for sweet Emmy’s predicament, and join us and her parents in an effort to save her sweet life.