Eleanor's Glut1 Deficiency Journey

As most of you know, Eleanor was diagnosed with Glut1 Deficiency Syndrome just before her 2nd birthday in June of 2021. It’s been suspected since she was three months old with her symptoms starting at six weeks with seizures. Glut1 Deficiency Syndrome is a rare genetic condition that impairs brain metabolism. Glucose isn’t transported properly across the blood brain barrier and into the brain, preventing it from growing, developing, and functioning the way it should.This is rare and finding access to professionals and assistance for this disorder is challenging. We did a fundraiser for Eleanor last year and it was so helpful. It got us to St. Louis to get her official diagnosis and it helped us pay off some of her medical debt and pay for the doctors who aren’t in-network with our insurance. We are so grateful.

Since her diagnosis, Eleanor has done speech and occupational therapy, began five different medications that she takes timed throughout the day along with a medical formula, began a ketogenic diet, added four new specialists onto her medical team, and been diagnosed with cyclic vomiting on top of it all. She has made huge strides and has remained mostly seizure-free. Unfortunately, she’s also had some setbacks. When Eleanor gets sick, she becomes acidotic very quickly which requires hospitalization. Eleanor was hospitalized five times just in the fall of 2021; twice requiring an NG tube. This doesn’t even include the number of ER overnight stays she had. This has left us with bills that total hundreds of thousands of dollars.

We are grasping at straws trying to find ways to pay bill after bill while keeping up with the payments to doctors she has to see and an already expensive keto diet in the middle of crazy inflation. We would be paying over $10,000 a month if we added every bill’s minimum payment together so we’ve been paying what we can and that’s no longer working. We have tried to get access to Medicaid which we do not qualify for despite Eleanor’s diagnosis. We have applied, been denied, and applied again for reconsideration for disability services which would get her access to Medicaid. We have been waiting on disability for a year. If this reconsideration is denied, we will have to acquire an attorney and appear in court to “prove” Eleanor’s disability. This is the kind of fight we’re dealing with daily on top of caring for a child with a rare genetic condition. We have reached out to every public resource we have found to help children with special needs/disabilities and due to Glut1 being so rare, they don’t know how to assist us. Eleanor sees multiple specialists within the same hospital network and they’re the only doctors in our area that have the expertise to see a Glut1 patient and properly guide us, but they’re out of network with our insurance. We’re paying out of pocket for every visit and lab test she has (which is a lot) and she sees doctors often. With all of these odds stacked against us, we’re finding it difficult to keep up with our regular cost of living and her diet cost while also ensuring Eleanor’s doctors get paid to continue getting the proper care she needs.

Our resources are running dry as anyone’s would in our situation. We decided it would be best to try to reach out with another fundraiser to help us tackle the next few doctor appointments, pay down some of her bills, and keep up with the costs of her diet and equipment. As truly awful as it feels to ask for help, sometimes that’s all you can do. Systems put in place to help families like ours are failing and we’re left picking up the pieces on our own. We are so thankful for our friends and family who continue to ask about Eleanor and keep us surrounded by love.