Happy 2017 everyone! If this is your first time reading about Maddilyn and our family’s journey with Autoimmune Encephalitis, Welcome! Please look through the archives to read about her diagnosis and treatment in the last year. Please feel free to share this blog with anyone you think may benefit. The best way to help those suffering from AE is to SPREAD THE WORD! As it stands, the medical field is not as aware of AE as they should be. Most providers have never treated a case of AE before. The more providers who are aware, the higher the chances that they would be able to recognize and diagnose. Remember, the earlier a person is diagnosed, the greater chance for a full recovery.
We had a very bittersweet Holiday season. I was so thankful to celebrate Thanksgiving and Christmas, at home, WITH our girl. I’m thankful every single day that she is here with us. I’m thankful for her Doctors and medical team who continue to push for her wellness, challenging us to try and consider new medications and interventions. The game plan is, and has always been to get Maddi well.
From an overall view, Maddi is doing very well. Right now, as expected, Maddi is managing more side effects and symptoms from months and months of treatment interventions, than she is managing disease. From a cellular level, Maddi’s disease is not NEWLY active. The Rituximab has worked to prevent her body from maturing B cells, which in turn make the Plasma Cells that created the Anti-NMDA antibodies. She has been getting weekly Plasmapheresis since the first week of September. This has worked to remove any antibodies that may be in her system from B cells that had already matured before the Rituximab. I had prematurely gotten excited when her titers came back at normal levels in September, but was then informed that they were only normal because of her weekly plasmapheresis. She hasn’t had a noticeable seizure in over 6 months. She has minimal cognitive deficits. She’s mostly sleeping at night. No motor deficits. She’s smiling and laughing- something we didn’t know if we’d ever see/hear at one point. Her Neurologist was very happy with her rapid recovery after Plasmapheresis (we all were!) His intentions going into this new year were to stretch out the weekly treatments to bi-weekly, with the intent to have her completed by spring time. Then in early December, Maddi came down with a central line infection and blood sepsis. It landed us in the Hospital for a 6 day stay and a month long course of strong antibiotics. Her Immunoglobulin levels (IgG) had bottomed out (112) and was in the middle of a pretty severe immune crisis. A few days previous, during her Rituximab infusion, the Immunologist suggested that we should consider the use of a second line Chemo drug called Bortezomib, which targets the mature cells that are making the Antibodies, and kills them off. Essentially, this along with the Rituximab would eliminate her faulty immune system, and give it a chance to restart. She would be without an immune system for years, and would require monthly IVIG infusions to ensure she stays healthy. Bortezomib also comes with a host of side effects more commonly associated with Chemotherapy. So, so many decisions we had to ponder over the holidays. I had felt confident that we would wait to add new medications and stick with the Plasmapheresis wean, since she’s doing so well, but then her IgG levels came back at 87, which is dangerously low, and which caused us to re-evaluate her short and long term treatment plan. The consensus is to get her off the Plasmapheresis sooner, than later, and get the central line out of her chest (to reduce her risk of infection.) With her IgG levels bottoming out every week- it’s like she’s a ticking time bomb for sepsis..scary, right? With all this new information, Jason and I decided to go forward with the Bortezomib, even though we were nervous for what that might mean. The doctors have reassured us that this medication is very safe, and will be very effective to stop her disease progression. It requires a series of four subcutaneous shots over a short period of time. The time frame will be stretched out to minimize side effects, as will the delivery method. She had her first dose last Thursday, and so far, aside from a severe headache Friday and some appetite loss over the weekend, she’s been tolerating it very well.
This whole experience has been so difficult as Maddilyn’s parent. Having to make decisions that could impact her future, is very difficult. I can’t help but think about her future, and what these medications could mean for her growth and development. It’s hard to make decisions without knowing what will happen down the road. I’ve been praying a lot for confidence and guidance to make the right decision for her, and trying to remember to have faith that God has got the lead in this situation, and will provide. I’m still struggling, on a personal level, with coping with everything that we’ve been through this year. I go between being so thankful for her life and her wellness, and mourning the life she’s lost. At night or in moments where things are quiet, and I’m alone with my thoughts, I can’t help but replay all of the moments of sheer panic. The moments where I thought I’d never kiss her face again. The moments I didn’t think she’d ever smile, dance, or laugh. All so scary, yet still so real and so apart of my reality. “One day at a time,” is my motto, and about the only thing I can do. That would be my advice for anyone impacted by this disease. Don’t let the insurance denials, the countless hospital stays, or the sleepless nights take over your consciousness. Stay steadfast and have faith, that everything works out exactly the way it should.
In our Journey this past year, I’ve had the blessing to meet many parents, caregivers, and persons who are riding this AE journey with us. The amount of strength, passion, and humbleness in this group of people is astounding! Connecting with others through my blog has been an important piece of my support system. If just one person can be saved by Maddi’s experience, then all of this would have been for nothing.
In March, Jason, Maddi, Jaxon, and myself will make the journey to Durham, North Carolina to Walk in the Florence Forth to support the Autoimmune Encephalitis Alliance. Consider donating in Maddi’s name to raise funds for a cure!