On February 10th, our daughter, Eleanor Nicole Beasley, was born. Her arrival came unexpectedly at 35 weeks due to severe intrauterine growth restriction (IUGR). At first, we just thought she needed to grow some, and let her lungs get strong enough for her to breathe on her own—and then we’d be able to bring her home. 

But Ellie started getting sick, and she just hasn’t been able to get well. She’s been on and off the ventilator, suffering from infection after infection. And she’s not growing nearly as much as she should be. No one has been able to understand why, so they decided to do genetic testing to find answers. 

At 3 months, those results came in. She has what’s known as MIRAGE Syndrome, a rare genetic disorder caused by a mutation of the SAMD9 gene on chromosome 7.  She is among about 60 patients to be diagnosed in the world, and very little research has 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. Eleanor has symptoms in each category and the doctors consider her case on the more severe side. With this diagnosis we’ve also learned that although treatments can prolong life to a very limited extent, there is no cure and her life expectancy is limited with most patients not making it to age 2.

We don’t know how long we will have with Ellie, but we want to give her as much love and comfort as we can, for as long as we have her here. To do that we will need more help, which is hard to ask for after we’ve already been given so much by so many. 

Eleanor will likely remain in the hospital for the rest of her life. We have felt the weight of ongoing medical costs growing steadily, alongside other unanticipated expenses and significant income loss. Any financial contribution would be so helpful as we navigate this season. We are grateful for all of your support and prayers.