I felt honored to be a part of the Utah Rare’s 2015 Rare Disease Day Symposium. It will be a day that I will never forget. Not only did I meet some of the most amazing families living in the world of rare, I listened to very inspiring speakers. Every single speaker had an important role to play yesterday. The rare community needs strong leaders. Yesterday, I saw strong leaders.

Cristina, you are amazing! You did this! You made this happen! We are all very blessed to have you in our lives.  Thank you to Anne, Jen and Julie too! Thank you to everyone involved for your hard work. We ALL appreciate everything you did to make yesterday happen. It was a HUGE success!

Season, thank you for the most beautiful pictures of our children. *All pictures in this blog are from Season Atwater. Please check out Aware of Angels.*

Katie, thank you for speaking at the Utah State Capitol on Friday. You are a beautiful and strong young woman. Be proud of yourself. You have a very important voice in the rare community. Thank you for being one of my RUN families. Thank you to your sister, Megan. I would not have been able to do this without you. Thank you. Love you both.

Here are some of my stories from yesterday…

Ava’s doctor: One of Ava’s doctors came up to me after the event. She said, “Gina. I came today because you asked me to come. What you do not know is that I lost my daughter three weeks ago to a rare disease.” Well, I was speechless. I sat in her doctor’s office about five weeks ago with Ava. I had no idea that she had a rare daughter. I had no idea of the pain and suffering she must have been going through at that time…before she lost her baby girl. She humbled me yesterday. Rare is everywhere. Rare is hard. Rare can be a life living in pain or suffering…or rare can be deadly. I asked this doctor if I could hug her. What I really wanted to do was to sit down in the fetal position and cry for her. What a strong and beautiful mother she was yesterday to come to our symposium.  I feel blessed to have her as one of Ava’s doctors. I hope she knows that we are all there for her.

 Single mom: I met a woman yesterday that drove a long way with her young son. He was in a wheelchair and he is a member of our rare community. I asked her how is she doing living in the rare world. She told me that she is a single mother and unable to work. I started to cry. I asked her, “How do you do it?”

She said, “Just barely.”

I told her that my dream with RUN is to help families financially. I want to put money in their pockets to help raise their children. Well, she started crying and I held her. I told that I am in the early stages of my foundation. I am in the process of receiving my 501c3. I held her hand and told her that I will help her when I can.  This is so hard on SO many families. As much as I know it’s hard on our family, I am not a single mother raising my children alone. I need to help this woman. I pray that I can help this woman and her rare son sooner than later. I pray. 

Family of four: I met a family of four. I liked them instantly. They have two children around the same age as my children. They have been told that their two children have dysautonomia. When they researched all over the country for the best specialists for dysautonomia, they found the same doctors that we see in Wisconsin. They have been accepted in Wisconsin and have an appointment in May with our same doctors. Bonded. Immediately. I told them that is was too bad that we didn’t meet sooner. We were unable to travel in February with the children due to the cost of airline tickets for our family. She said the same thing, “We cannot afford the tickets right now either. My husband makes in the six figures and we are broke. We hope to have the funds to travel to Wisconsin in May.”  This is not okay. This is what I want to do through RUN. I want to pay for the flights, hotels, gas, etc for families traveling to and from hospitals. It is already emotionally and physically exhausting. It should NOT be financially draining as well.

Grandmother, daughter and son: I met the three of them before the symposium started. My heart hurt immediately. The young mother told me that her son is deteriorating quickly. He still has his sight and his hearing. However, they will be gone soon too. The grandmother told me, “We want to find someone to help him before he loses his sight and his hearing. It is all he has left.” This is NOT ok. How can we stop the progression before it’s too late? I want to help this family. Sooner than later.

Father with his son: I met a father with his son yesterday. I had met the mother yesterday at the Capitol. My heart hurt for this young boy. I was honored to meet him. His father said, “He has no idea where he is right now but he is happy. I can tell.” I could tell that the father was happy to be there as well. It was a day of learning for all of us.

Addie’s family: I met Addie’s family at the Capitol on Friday. I listened to Addie’s mom talk about the devastating news from the doctors. “All we can do is make Addie comfortable.” This is not ok. As a mother, I cried inside listening to her tell her story. Mothers should never be told to just take their child home to die. How is that okay? It is not. We need change for these rare children. We cannot just let them die.

I met many more families yesterday as well as spent time with the families I have met through Utah Rare. Every single family has an important story to share. Thankfully, I was able to share our story yesterday. Finally, I was able to speak on a stage and talk about our diagnostic odyssey. It felt good. Not because I was in the spotlight. It felt good because people listened. It felt good because I might be able to help other families living in the world of the rare and undiagnosed. The world of the unknown.

Much love,

Gina

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Oskar

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Lucy