Emanuela Galit Menon, “Emy G” was born on Thanksgiving to Rebekah Carrizales and Ezra Menon. She is a precious girl with a long health journey ahead of her. She has already overcome a lot in her life. Rebekah’s pregnancy was normal until the 20-week ultrasound when it was discovered that Emanuela was developing without kidneys. This condition is called bilateral renal agenesis (BRA).
Historically, babies with BRA died immediately upon birth as their lungs were not fully developed. Lung development in utero occurs in part due to practice breathing the amniotic fluid. The amniotic fluid is urine produced by the kidneys. As babies without kidneys do not produce amniotic fluid, their lungs are underdeveloped at birth. This results in death within minutes of delivery.
Currently, the Renal Anhydramnios Fetal Therapy (RAFT) Trial is underway at a handful of institutions across the nation to investigate the role of serial amnioinfusions to treat bilateral renal agenesis and other severe kidney conditions. Each week, fluid is instilled into the womb through a needle. This provides the amniotic fluid babies need to practice breathing, with the goal of developing healthy lungs.
Emy was enrolled in the trial and received her first amnioinfusion at week 22. During the procedure, some of her DNA was collected to see if she had any genetic abnormalities. The results of the genetic test showed that she has a microdeletion in her 22nd chromosome. This is when a small part of her DNA is missing. In over 90% of cases, this is a de novo mutation, which means that it was by random chance that part of her DNA is missing. The disorder is called 22q11.2 deletion syndrome, otherwise known as DiGeorge Syndrome.
Having a genetic abnormality excluded her from the clinical trial. This was a setback as the amnioinfusions are not currently a part of standard of care, which makes it difficult to find a provider who will perform them. A physician in Omaha was willing to take on her case and perform the amnioinfusions.
She was born pre-term at 32 weeks and 5 days. The amnioinfusions turned out to be life-saving in Emy’s case. She cried shortly after birth and avoided respiratory distress. She is now at the University of Minnesota receiving peritoneal dialysis. She will be in the NICU for several months as she requires intensive dialysis. The end goal is for her to receive a kidney from her mom or dad when she is around age 2. After the transplant, her life will be more stable as she will no longer require dialysis.
Ezra and Rebekah reside in Madison, Wisconsin. The cost of the amnioinfusions was not covered by their insurance as they categorized her intervention as experimental. Each amnioinfusion was approximately $4000. She received 12 infusions in Omaha. The total estimate for this treatment is $48,000.
Additionally, Ezra and Rebekah are fighting insurance to cover Emy’s delivery and postnatal care out of network. Emy requires dialysis care at a facility that can support a small baby. The in-network option can only support a baby if they are 2000 g. Emy weighed 1110 g at birth, thus would not have been given the option of dialysis had she been born in Wisconsin. This coverage has also been denied, but Ezra and Rebekah are working to appeal the decision.
The goal of $50,000 is to cover the cost of the amnioinfusions and other consults that were required prior to her delivery. The couple is hopeful that their appeal will be granted for coverage of delivery and postnatal care out of network. Thank you for supporting Emanuela. Please follow her story at BabyMenon.com.