January has been such a crazy month! I’m thankful to each and every one of you who reach out with words of encouragement and prayers for Maddi and our family. I can promise you, they are felt! I wanted to take a second and give an update on Maddi’s health and some things that will be happening in the future.
We are almost two years into Maddi’s diagnosis of Anti-NMDA Receptor Encephalitis. Maddi’s case was considered refractory, which means it didn’t respond to first line treatments and needed both second and third line treatments to stop her disease progress. We are beyond blessed by our team at Shands Children’s Hospital. They are truly wonderful, and I credit their intelligence and willingness to be aggressive, with the success that Maddi has had so far. I remind myself daily how lucky she is to be alive. How lucky she is to have gotten a diagnosis and to have begun treatment within WEEKS of disease onset. This is not the norm. Many patients battle for months, and even years, to get the correct diagnosis and treatment; all the while getting sicker and sicker. The literature states that the best disease outcomes come from early and aggressive treatment. This is why I write and share our journey, because my hope is our Maddi’s experience will help another family get that same early & aggressive treatment.
Jason and I are so happy to report that Maddi is doing wonderful! Although we have not heard the words, “Remission” yet, I know that her disease is not currently active. We knew going into treatment that we would have to make some really big decisions in regards to how best to treat Maddi. Unfortunately, none of the treatments for AE are without risks and side effects. It’s one of the hardest decisions as a parent to make, but we knew delaying treatment could have meant her life. Maddi’s treatments have been successful in stopping her disease from progressing, but in the process we had to destroy her immune system. Rituximab is a very common second line chemotherapy treatment for AE. Ritux, along with the new AE medication, Bortezomib have wiped out her b-cells and plasma cells. Due to these treatments, She has developed a secondary disorder called Immunoglobamina, which means her body is unable to create it’s own antibodies, and thus she has an IgG deficiency. This is the reason she gets IVIG every 4 weeks. This infusion is a replacement dose which gives her an artificial immunity using donated antibodies! She has continued to get quarterly infusions of Rituximab because of how stubbornly she responded to treatment, at start, but since she has done so well, we are pushing her Ritux maintenance to every 16 weeks, instead of 12! There is a risk that once Ritux is removed, that her body is will be unable to create B-cells again. Although we hope this is not the case, if this happens, she will need to be on IVIG replacement for the rest of her life.
Steroids is the FDA approved first line treatment for AE. In Maddi’s case, she has been on predisone almost consistently for the last 20 months. This aggressive use of steroids has caused her adrenal glands to become suppressed, resulting in secondary diagnosis of Adrenal Insufficiency and the beginning stages of Osteonecrosis in her foot. We recently added Endocrine to our team to help manage her steroids, as well as monitor her bone growth. To combat the Adrenal insufficiency, we have discontinued Pred and switched to a less intense steroid. The hope will be that she does not have any disease symptoms. With the new steroid, we have to be more vigilant to certain things, especially illnesses. Because the aim is to try and wake her adrenals up, the less intense dose of steroids means that her body isn’t making enough cortisol to deal with any body stress such as sickness, getting hurt, etc. I feel confident that we have a great plan put in place for when these things happen, but it’s just one more thing for her Dad and I to be worried about. As far as the osteonecrosis goes, she’ll undergo some bone density scans next week to check for osteoporosis. If they find any changes, she’ll need to have x-rays of her spine, and then the decision for treating bone loss will be made at that time. Thankfully, there is something that she can receive via infusion that can help strengthen and protect her bones, so I’m less worried about this problem!
During our Endocrine appointment, we talked about my concerns with Maddi’s thyroid. Last year during her flare, I expressed concern about it. Levels were checked, and it was noted that although still within the realm of normal, her thyroid function had dropped dramatically within the year, compared to baseline. We went ahead and had labs drawn to check the thyroid antibodies to check and see if she had any signs of thyroid autoimmune disease, and unfortunately, her levels came back very high. Right now, I don’t have many answers for this new development. Endocrine said that treatment/action will depend on her TSH and T4 levels that we’ll draw next month. If they are fine, we do nothing now. If they are not, she’ll need to be placed on hormone therapy. Thankfully, this is treatable, but it’s frustrating that she’ll now have to manage a second autoimmune disease. Endocrine said that she is 3 times as likely to develop additional autoimmune disease, since her body is predisposed to attacking itself. I’m just thankful that we are catching these problems now.
Also, at the urging of our both Neuro & Rhuem, Maddi, Jason, and I met with a psychiatrist a couple of weeks ago. This doctor has experience working with AE, as well as other Nuero-immuno mediated diseases such as lupus. I was very apprehensive about this appointment, because right now Maddi could meet criteria for about 5 different DSM V behavioral disorders. The fear is having a behavioral disorder attached to her, will skew perspectives, and god forbid she has a relapse in the future, could delay her treatment. When we met with Dr. D, I felt so much better. He was very kind, and he listened. After talking about our concerns with him, he agreed it sounded like Maddi was suffering from some anxiety. She even filled out a self-reported anxiety check-list, and scored very high. This is something I knew was coming. I was very happy that he was not in a rush to prescribe medication, but recommended some colleagues for us to see to try some simple CBT therapy.
Although this year has started off crazy, I still very confident that his year will be the best yet. Maddi continues to grow and excell, and our family continues to heal & adjust to our new normal.
Sometimes I feel very overwhelmed and exhausted with all that’s on our plate, but I know that God chose us to be her Mom and Dad because we could do it. God chose Maddi to carry this burden, because he knew she was strong. He chose our family, because he knew we could make it into something good. I will continue to advocate and speak loudly about this disease, because everyone deserves a chance to fight the madness, just like my Maddi!