Illuminating Ellie

It has been nine months since our last update. Partially because the days have just blurred together, but mostly because this has been a hard one, and saying (writing) it out loud makes it real. There is a lot to cover, so I apologize if I am a little all over the place. To start this off, I just want everyone to know we are doing OK —Ellie is thriving and in a much better place than our last post.   Where we are now After ten very long months, we finally have a diagnosis, thanks to the NIH and Ellie’s amazing care team— Aicardi-Goutieres Syndrome (AGS). AGS primarily affects the developing brain and immune system of infants and toddlers, most often resulting in profound developmental delays, lifelong physical impairments, and persistent neurological changes. In AGS, the body’s immune system turns on itself in a destructive way, targeting myelin, or white matter in the brain, and significantly impacting the nervous system. I have found www.agsaa.org to be the most family f...

Our little world is changing quite a bit and we’ve had to make some pretty big decisions. Seattle Children’s  We really had a wonderful visit. We met with the neurologist and rheumatologist for over two hours, where they were able to meet Ellie, evaluate her and fall in love with her. While we were hoping for an aha moment, they are just as baffled as the rest of us. They did reiterate that the steps that have been taken thus far by our Boise team were exactly where they would have started, which was reassuring to hear. They will be collaborating with our Boise team going forward and have a path that we’re moving forward with, starting with a repeat MRI, lumbar puncture and more labs. They are still thinking it’s some rare disorder (metabolic or autoimmune) caused by a genetic condition.  Following our visit, our Seattle team discussed Ellie’s case with bio chem genetics and they have scheduled a visit in July. While that’s a bit further out than we’d like, initially we were t...

A lot has happened since the last time I posted and today was especially difficult. Genetic Testing The mitochondrial results came back showing no abnormalities, which leads us back the autoimmune route.  Growth  We met with an endocrinologist last week, who was very eager to help us. We will be doing a number of labs as well as a growth study. This is a 6-hour infusion session, where they take her blood every 30-minutes. I have been told it can be pretty rough and we are not looking forward to it, but hope maybe this can give us some insight into what is going on with her cute little body.  COVID It finally got us, well all of us except Pete. It started with Maddie, made its way to me, and then after doing everything we could, our sweet Ellie got it, her symptoms started a full week after mine--which made for an extra long quarantine. Ellie ended up with a fever for 11 straight days and double ear infections, plus all the vomit one could handle. We’re thankful to be over...

Things feel like they are finally starting to move. We have a number of updates since our last post.  Genetic Testing The whole exome sequencing resulted with no abnormalities, but we are still awaiting the mitochondrial results and from what I understand, that may take quite a bit longer. We feel a sense of relief that there were no genetic abnormalities found, but still struggle without answers. Growth Despite our best efforts, Ellie's weight was still not improving. We visited with a pediatric dietician last month and now Ellie is receiving the majority of her nutrients from prescribed formula and a very high fat/caloric diet, including benecalorie (ick). Over the last several weeks, she has decided she only wants the formula and foods that are mostly in puree form (i.e., not feeding herself). We really hope this is just a phase, because even after everything that has happened over the last (almost) six months, she has always LOVED to eat and feed herself.  We are happy to ...

After a long and emotional Thanksgiving break, we were ready to get to the bottom of things. We started our day with an appointment with our pediatrician and care coordinator. Luckily, it was scheduled prior to receiving the denial letter from the insurance company last week. We had a very productive appointment; we were ready for our next steps and had a game plan ready to go (I am so thankful for these two truly amazing people).  As soon as we got home, Pete got on the phone with our insurance company to see why they denied the request for whole exome sequencing. We went round and round between our insurance and the genetics' office (spoiler: we never really got a straight answer, only the blame game). Fast forward to the third time I spoke with our genetics' office, and I was able to actually speak with a genetics counselor, she saw in our chart the approval for Katie Beckett (KB), and she stopped straight in her tracks. She let us know that little piece of informati...

After over two months of going back and forth with the insurance company for preauthorization for whole exome sequencing, we received a denial letter today, with the reasoning that it is “not medically necessary”. I am devastated, truly and utterly defeated.  How can they say “not medically necessary”, like her symptoms don’t exist. Like it’s completely normal for a 16 month old to not be able to do basic things. For her to have nonstop movements, continuous wobbles, not to be able to sit without one arm planted on the ground to support her, even when in her high chair. She can’t stand without collapsing, even if you’re holding her. She can’t hold her bottle, she can hardly feed herself without dropping every other piece of food. She can’t pull to sit, or keep hold of her toys. She has very limited strength, and her posture has completely declined. She can’t make her kissy sound that she used to make at me constantly before all this happened.  Not medically necessary. Somethin...

This week was filled with mixed emotions, but who are we kidding, that is our life lately.  After almost two months of waiting, we finally had our Katie Beckett interview/eval Monday. It was two hours of back to back questions about Ellie and her abilities. Hearing it in a string of questions, one after another after another, was heart breaking to say the least. I had to excuse myself three times. It’s like you know she needs help, but to hear it all at once was very overwhelming. They asked questions like:  Can she hug you? Does  she put her arms out for you?  Does she understand when you point at things? Can she sit on her own, without support? Can she eat on her own? Can she hold her bottle/sippy cup? And just a lot of other questions that one at a time are probably manageable, but all at once were unbearable. We got through it, but there was a bit of a cloud over the week. One thing I have been feeling lately, with Ellie being undiagnosed, is that maybe there’s a...