Today is June 2nd, 2015. The family picture we always use is now two years old. What has changed in the last two years? Ava had no idea in that picture that she was about to suffer pain. Real pain. Thankfully, Ava’s pain is no longer in her head. We owe that to medical technology, her shunt. Thank you, God and the doctors.

We still do not have any answers in the last two years since this picture. We are still trying to get whole genome sequencing performed on our family of five as well as my parents. We have a bigger pile of medical records than we did on June 2nd, 2013. My file is over 1400 pages. Ava’s file is over 800 pages. Oskar’s file and Lucy’s file are getting up there as well. We have had so many doctor appointments in the last few months that I did not even blog about them. The specialists are all wonderful but they realize that they just do not know how to treat us. Ava’s pain and fatigue are getting the best of her and the weather is only just starting to get hot. I dread the summers. She is also in pain almost every time she puts food in her mouth. Although, her last GI scope showed improvement on her EOE. So, we think it’s her autonomic neuropathy playing a huge role in her digestion. Even this morning, she cried after eating breakfast. Oskar and Lucy are so fatigued in the heat and still continue to have pain and digestion issues. Will it ever end? Will they grow out of it or will it get worse with age?

Thankfully, Ava is so strong. She never shows her pain at school or on a play date. She is determined to be “normal.”  It took her almost the entire school year to realize that she could be cool with her helmet on the playground. She’s singing more and her artwork is her escape. Ava’s birthday is in a few days, June 4th. It always brings up the dates again. June 4th, Mayo Clinic. June 13th, ER. June 15th, Cranial surgery #1. The list goes on. Last year, the dates brought me back into a dark hole. It was the anniversary of Ava’s almost death/blindness. I am promising myself as well as my family that I will not go there again this year. I am looking at the positives in our lives and not the negatives. I am focusing on the light and not the darkness.

Although, whole exome sequencing did not give us any solid answers, we will continue on our mission for the whole genome sequencing. We do not have a choice. We hope someone will hear our prayers and help us get our family sequenced soon.

Thank you for your continued support, love and prayers.

Much love,

Gina