2021 has been such a whirlwind. I would like to summarize the last year as briefly as I can in this post. Thank you for your patience! I'm so happy to be back. The last time I updated on this platform we were waiting for Atticus to be seen by neurology. We went to that appointment with a smart stick of photos, videos of muscle weakness, and explosive behavior due to pain. We started that appointment by her admitting to have forgotten the conversation she had with our primary care and she did not look over the letter or charts she received. After speaking to her for a few minutes she suggested that either my three year old was faking these scary symptoms or he was having headaches. I asked her about the primary diagnosis our PCP was discussing with us at the time - Atticus's lab results supported this diagnosis suspicion. She said "that's too rare, I'm not going to test for something so rare." Did she ever look at our smart stick? No. It was very disappointing yet not surprising! We came to our PCP ready to move forward to the next specialist. The search for answers continued forward. We were sent to a pediatric geneticist at the children's hospital we spend a plethora of time. Before saying a word she greeted us with a pamphlet of the disease that was once called "too rare." She said "this is undoubtedly a mitochondrial disease."
Unknown variant mitochondrial myopathy disease A genetic disease most likely passed down through the mother. Its worse every generation with an unknown severity per individual. Meaning, Basil our youngest is most likely affected, at least mildly at the point. And any other children we may have could be mildly to severely affected to the point of living a very short life. It is considered a progressive disease. However, the variation is wide and unpredictable. While many individuals experience insignificant changes others experience catastrophic progression of disease. Altogether it is a very unpredictable disease which has actually been incredibly comforting.
The geneticst immediately sent to check all his major organs as the disease's progression is reflective in the vital organ functions. Heart, hearing, and eyes! We are happy to say they currently are looking beautiful. The Lord gave us a gift because every provider said the same exact line, "You wouldn't even know he had a mitochondrial disease based on these results!" We received this diagnosis just a week before Pascha. The timing was truly divine. We had "bright sadness" - a phrase we often use during lent in the Orthodox Church. I never knew the depths of this feeling! And when Pascha arrived I was filled with a joy I had never experienced before. A complete contentment and faith in the Lord, knowing His will was completely perfect. True euphoria! He loves us, He is with us, He knows us. I felt like my soul was overflowing. But like the Saints describe, that euphoric joy doesn't last forever and soon our hearts were humbled with earthly grief and life-adjustments. I would like to take a moment and say that Atticus is doing great amongst the heavy challenges. He has not experience progression of disease nor regression of skill these past two years. He has many days of severe pain but we have found some pain management skills. We are so proud of this boy! We are on track getting him a wheelchair to explore outside our home. We are so excited for this up coming tool! However, despite Atticus's growth it goes unsaid that 2021 was a very traumatic year with emergencies, procedures, and a new heavy diagnosis. To make matters worse, shortly thereafter my own health became compromised. Everyday I became even more sick. It took a few months to find proper care and I ran into some health care hiccups. I eventually got diagnosed with MCAS as we are genetically predisposed for this syndrome. However, the big question was "why I am currently flaring to the point of incapacitation?" A doctor helped me unearth this question and we found the answers! Basically I was born with MCAS and mild effected mito carrier, however, later I became mold poisoned and it exacerbated my conditions to no longer manageable. Yes, mold poisoning from a home in southern California. My genetically determined metabolics make it harder for me to filter and fight off bacteria, illness, and toxins. I'm currently on the road of recovery but from oct-dec I spent many days in bed, completely miserable. I was reacting to almost all foods - even to the point of mild anaphylaxis everyday. I am fortunate because Atticus's amazing doctor referred to me to a colleague! She is treating me very similarly to Atticus's care plan. I'm now finding healing and progress! It's very exciting to be feeling a little bit like myself again. Yes, Atticus also has some mold toxins and we are starting a protocol for him! No, this is not a cure. At the most we are hoping it helps his immune disease and give it a chance to heal. At this time that is all I can say because that is truly all that we know! Thus... my absence. Now you know it all and why I disappeared for a year. But I'm back! I'm so excited to show you guys what I've been studying while sick. All the creations to share, the reflective thoughts, and everything in between! Thank you for your patience and for just being here exploring our journey!