Lately, I've been receiving so many messages asking me what Sophia's condition was, and as you can imagine, it comes with a lengthy answer. I stopped answering those questions long ago because it was complicated and a lot to answer everyone who asked. Yesterday, I was typing Sophia's Voice into my phone to check my website for something, and Google came back with the top searches for Sophia. The question was, 'What is Sophia's diagnosis?' so I thought now would be a good time to share again since we have new information that sheds light on what caused the differences to her beautiful face, hands, and feet. We received this new information about her latest condition as we took off this summer for our RV trip across the US in Sophia's memory. I literally saw and opened the email as we drove off. It took me some time to absorb and understand, and I'll try to make it as brief and simple as possible. I share this with you to raise awareness. First, I want to say that Sophia was always going to be who she was, since the time of her conception. Through extensive testing, we know this wasn't hereditary, and it wasn't caused by anything other than her predetermined genes. Sophia's gene changes were spontaneous and created her conditions and syndromes. Her genes also created an amazing, smart, unique, loving, kind, sassy, and beautiful little girl. We didn't find out about Sophia's differences until an ultrasound at 34 weeks. They missed everything on all the previous routine ultrasounds. When they discovered some of her differences, they told us that she might not survive birth, but she did. She continued to defy the odds for ten and a half years. Sophia was diagnosed with Rett syndrome. It's a mutation on the MECP2 gene, but her mutation is one that had never been documented before. Rett syndrome is what caused her regression and loss of skills around the age of two. She lost the ability to speak(she could still communicate in her way), sit, stand, walk, eat by mouth, and fully use her hands. At random and spontaneous times It caused seizures, tremors, dystonia, breathing and swallowing difficulties, and a lot more(you can look it up). She also had type 1 diabetes, a rare immune deficiency, and no B cells, a crucial part of our immune system, and more as we recently found out. Things weren't always so complicated, but each year brought a new diagnosis, challenges, and symptoms. Sophia needed full-time care. Six years ago, a scientist reached out to us and wanted to study Sophia's immune system and genes because he had discovered some of her differences in other patients. This new-found condition doesn't have a name yet, but there are ten known people with the same B cell deficiency and some of Sophia's differences. The other nine people had mild facial, hand, and feet differences, but Sophia's was the most prominent case. They linked having no B cells to causing differences in the face, hands, and feet as well as recurrent infections and other immune deficiency related symptoms. This new-found condition could've been a factor in Sophia's other conditions and symptoms, but it wasn't found in the other people and hasn't been tested yet, so we don't know. This new information will help other people receive a diagnosis and hopefully get better treatment for it one day. This diagnosis wouldn't have changed the treatments Sophia was receiving, and it wouldn't have saved her life. We got used to never having any answers when it came to Sophia. After a few years, we realized it didn't matter as long as we were treating her symptoms with the best possible treatments and surgeries and with guidance from leading doctors and specialists. Although Sophia went through a lot in her short ten and a half years of life, we made sure that she experienced nothing but unconditional love, happiness, cuddles, and laughs from us. As I've mentioned before, she spent her last moments on this earth as she spent every day of her life, surrounded by love and adoration. One thing is for sure; Sophia was meant to be here and meant to be like no other. She was an exceptional human being, and those who truly knew her and spent time with her were lucky. I was the luckiest mommy in the world to love her and be loved by her.
