Ava Szajnuk’s CT on November 16, 2017: Technology is beautiful. Ava recently fell and hit her head in gym class. She suffered a head injury and a concussion. We are thankful it was not a skull fracture and that her shunt is working well. Ava wanted to share this picture with all of you. She is so proud of her shunt and to be able to see it in this incredible image was an amazing opportunity. We are so very thankful to technology. We have been blessed to have such a special team of doctors, nurses, teachers, family, friends and our rare and undiagnosed community. Ava continues to inspires me each and every single day to continue to move forward optimistically in our world of the unknown.

PS – Ava says, “Hi! Did you see my eyeballs?!”

November 17, 2017:

Szajnuk’s Update

We met with one of our neurologists back in Wisconsin last month. Dr. Kurt Hecox is an incredible doctor and a great investigator. We first met with him in May, 2016. He spent hours going through our records. He was enthusiastic and very kind. During our last visit, he was more somber. He had looked at all of the notes and even called other doctors around the country about our family. He came back to say that he unfortunately feels that we are twenty plus years ahead of science with our disease process. We do not have a smoking gun gene in our family and that we need to wait for the algorithm to search for multigene disease processes.  He suggested that we need to stop searching and to stop doing diagnostic testing until a new symptom appears. This was hard to hear. However, I already knew it deep down in my heart. After all of these years of traveling around the country and after all of the testing, we are in the same place we were when our first neurologist told me to just accept the unknown. She said that we will just need to treat the symptoms. I remember being so mad when she told me to just go buy a book about a mother raising a son for over twenty years that was undiagnosed. I was mad and I was not going to accept the unknown.

I’m never going to give up on trying to get a diagnosis, a treatment and a cure. However, we will take a break from our diagnostic odyssey and focus on our quality of life. We will wake up each and every day looking forward into our unknown future. We will be optimistic and we will not focus on our pain and our suffering. We will live each and every day to the fullest. We are doing well cognitively and we are fighting every single day.  Thank you for being in our lives and for being such a huge support system. I do believe we gained an incredible network and community through our journey. We are forever grateful for the people we have met along the way.

We will continue to move forward one day at a time. However, I must admit that my heart hurts that we do not have a diagnosis, a treatment and a cure by the end of 2017.

Well, if I went back to that first neurologist, maybe I should ask her one very important question, “What was the name of the book you wanted me to read?”

As always, thank you for your continued support, love and prayers.  We wish you have a healthy and safe Thanksgiving and a wonderful Holiday season.

Much love,

Gina

For more of the Szajnuk’s journey