Happy Holidays, Merry Christmas, Happy New Year... all the things!

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 friendly site to learn about this disorder. AGS is a very rare disease and as far as I know, we are the only case in Idaho.

 

The AGS specialists are located at Children’s Hospital of Philadelphia (CHOP). We were fortunate enough to be able to visit the team for two days of appointments in mid-August, thanks to Children’s Flight of Hope. Such an amazing organization. They flew Ellie and I first class, in order to keep Ellie’s exposure limited. This was our first experience in first class, and it was absolutely worth all the buzz (lol). Thankfully, Pete was able to get on the same flights, but pretty much had the center seat in the back of the plane for each flight. During our visit, we met with the clinical team as well as the research team. We had an amazing visit; I cannot even begin to describe how it felt to talk to people who actually understood what was happening with Ellie. They were able to give us a glimpse into what the future could hold, and were able to provide recommendations for therapies, equipment and additional treatment options. They will continue consulting with our care alongside our Boise team.   

Procedures (g-tube, MRI, LP)
April 2022

Ellie’s “magic button” was placed April 5, where she also underwent another MRI (4th since episode) and LP (2nd). We were so focused on the g-tube placement, that we hadn’t even considered the possibility her MRI could show progression, which it did. This was an extremely difficult time for us. In addition to the damage to her basil ganglia, the MRI showed white matter at her stem, which would explain her eating regression. Thankfully this did not impact her beautiful personality, which has been a huge concern for us. 

Three weeks following her surgery, she ended up back in the hospital, due to vomiting and a fever that lasted eight straight days. Her team was concerned of infection behind her surgery site. After two of the longest days/nights of our lives, no infection was found, so we went home without answers.

 

Diagnosis & Treatment

June 2022

The NIH ran multiple labs on Ellie, specifically looking at her interferon levels. We received the results in June, ten months after her initial neurological episode—Ellie’s levels were elevated. This was the first time we were even close to a diagnosis. Based on this and all other symptoms Ellie was experiencing, the NIH and our rheumatologist were able to determine it was a high probability that she has AGS. Once we confirmed the interferon levels were consistently elevated (with two additional rounds of testing), and received preauthorization of coverage from our insurance, we were able to start treatment within two months of the diagnosis. The treatment for AGS is a JAK inhibitor called barcitinib. This has been a GAME CHANGER.

 

Following her g-tube placement, she was receiving all nutrients from prescription formula via g-tube. We attempted reintroducing solid foods and she struggled with gagging and choking, so we kept it very minimal (i.e., bites of applesauce and baby puffs). Within days of being on the treatment, you could see a significant change, her movements were much more controlled and deliberate. I started by giving her a cheerio. She snatched it up and ate it, like she’d been doing it all along. We continued to progress from there and within a couple weeks, she was gaining enough weight with the addition of solids, we were able to reduce her formula by half—yes HALF.

September 2022

Fast forward two months—Ellie hit the 25 lb. mark!! This is a huge achievement and now we can discontinue the formula completely. She is receiving 100% of her nutrients by mouth (feeding herself), and only depending on the g-tube for hydration and medication.

 

In addition, since Ellie began treatment, her fevers and vomiting have subsided (she had a fever almost nightly, and vomited multiple times a week), her sleep improved significantly, and most importantly her development began progressing.

 

Swallow Study (2nd) and MRI (5th)

October 2022

We had a repeat swallow study complete and while she did aspirate one time with thin liquids, she did substantially better with everything else. This means we can move forward with trying to get her to drink thickened liquids. It has been a bit more difficult than I had imagined, as she was a bottle refuser in the first place, but we are doing our best to be patient and trying to keep it fun for her.

 

Ellie also had her fifth MRI, and it was STABLE—there were no new findings. This was pretty much the best-case scenario. I cannot even express how big of a deal this is. This girl is seriously so strong and resilient.

 

And now for the fun stuff…

 

Illuminating Ellie Event (Ellie’s 2nd Birthday Celebration) – July 2022

Everyone came out in force to celebrate our girl. We turned it into a fundraising event to support Rays for Rare, and guys—we raised over $5,000. I cannot even begin to describe how much it all meant to our family. HUGE shout-outs to our dear friends and family for donating their time, energy and resources. Our entertainment was donated by Magical Princess Parties Idaho, Magic Man-Brad & Balloons, Daydream Face Painting Boise, DJ Andy Boyles, Smitten Sweets, Zepplin Balloons, Rocky Mountain Roll, and more. We plan to make this an annual event, although we will likely consider a different month/day, since it was a sweltering 106 degrees. Stay tuned for more information in the coming months.

In addition to the money raised at Ellie's event, my St. Luke's work family donated $1,500 on our family's behalf to Rays for Rare as my going away gift. It was a very moving gesture, and we are forever grateful for their support.  

Rays for Rare continues to be such a huge blessing to us, from the support and services we’ve received, to the other families we’ve been connected with along the way. We recently attended our first Merry & Bright event put on by Rays for Rare. It was a very special evening. 

 

Therapy, Equipment & More
Ellie is a busy little thing. On most weeks, she has 2-3 appointments a day, between therapies and visits with specialists and different members of her care team. She is in PT, OT, speech, aquatic, feeding therapy and even the infant/toddler program, and just thriving. We were finally able to get equipment ordered, and it takes about four months before all is said and done. We anxiously await her wheelchair and gait trainer—thankfully one of her PTs was able to loan us a gait trainer to use in the meantime, and we are very grateful for that. She also has leg braces, which have helped tremendously.

As a family, we have come to the realization that we may need to rethink our living situation. We found our forever home almost seven years ago, but with it being a two-story, we want Ellie to be able to navigate throughout in her wheelchair and be as independent as possible. Luckily, she is still petite, so we do not have to rush into anything, but we hope to find our dream single-story home in the near future.

 

Recently, we had our first encounter with “uncomfortable stares." The first time we were out and about in Ellie's loaner gait trainer was at an appointment. We all know how social our sweet Ellie is, so she and I walked up to a table of three little girls (sisters, probably ages 3-7) to say hello. Ellie has been beyond happy being able to stand and see eye-to-eye with other kiddos. Well, these sweet girls just didn’t know what to think. They avoided eye contact with us, and tried to look away, all while their mom sat in the chairs behind them, looking on her phone. I just felt like this was such a teachable moment for that family. Ellie is different and special, and she deserves a hello and a smile. While this really hurt my heart, it would give me so much joy to help bring normalcy to “differences” in Ellie and others throughout our community. Please don’t teach your kids "not to stare", teach them to smile and say hello. You have no idea how much joy that brings to these sweet kiddos. Love and kindness really are number one in “our” world.

We feel very fortunate this holiday season to finally have some answers. While we have no idea what the future holds, at least we have a path to follow. I am grateful to be able to focus all my time on Ellie, and of course Maddie—the best big sister ever.