Dear Family and Friends,

I started RUN for my three undiagnosed children. So, I apologize for blogging on it about myself lately. I want to share my journey right now in hopes of finding answers for me sooner than later. I want to get better as soon as possible so I can be here for my three children. It’s hard to talk about the following without crying. I thought it would be easier on me to email this update to my family, my friends and my rare and undiagnosed supporters.

I tried to be positive over New Year’s Day. I tried to be positive on my birthday. I am trying very hard to stay positive. But, I am scared. I am very scared.

I am currently under the care of several specialists right now. Unfortunately, they do not know exactly what is going on with me. They are trying to figure out if it is one disease process happening or if there are multiple issues happening coincidentally at the same time.

Right now, I am working with a GI specialist, pulmonologist, neurologist, rheumatologist, a nephrologist and an allergist. They are working above and beyond for me and I am glad to have them on my team. I was with a different specialist every day last week as well as fitting in multiple specialist appointments for the children. It was an exhausting week.

There is some kind of lung disease process happening. My oxygen is not getting through my lung tissue and into my blood stream. My oxygen drops when I walk (down to 80) as well as when I sleep (down to 60). They have put me on oxygen at night.

There is something going on with my heart. It isn’t regulating correctly when I go from sitting to standing.

I am having trouble swallowing. (dysphagia/eosinophilic esophagitis).  I also have jerking movements during the night. (myoclonus)

I tested positive for the EoE like Ava. We are not sure if it is food related or from some kind of autoimmune disease. I am supposed to be on an elemental diet.

 

The terms being thrown around right now are:

“undifferentiated connective tissue disease”

“autoimmune” “lupus Like”

“severe systemic illness”

“progressive degenerative disease”

 

I have the upcoming tests in the next few weeks:

24 hour urine to rule out small cell lung cancer (*REALLY????*)

Echo

MRA of the brain

MRA of the kidneys

PET CT scan (we hope to get this approved by insurance)

Ultrasound of my hands

Sleep study

Patching my back for 48 hours

Another pulmonary function test

 

Update on the children:

I took Ava to yet another neurologist, rheumatologist and orthopedic specialist for her shoulder pain. Unfortunately, they did not have anything new to add to help Ava with her shoulder/tummy pain.

Ava and Oskar will be patched for 48 hours with me this week for food allergies.

All three children are going to be scoped again by a GI specialist. They will be doing all three of them on one day. I do not have that scheduled yet.

Lucy is seeing pulmonologist soon. Her central sleep apnea is getting worse. She also has a new and strange pain/swelling in her foot. She has been screaming at night. It seems to be okay during the day. I have no idea which specialist to even ask about this new symptom. She will cry that her legs hurt, elbows hurt and her tummy hurts. It’s heartbreaking.

We are still waiting to hear from the team back in Wisconsin for the whole exome sequencing results. We were supposed to fly there next week. Due to my health issues, we will only fly if we have confirmation that the results are in. We would love to get the answers sooner than later. However, we do not want to rush the process.

Please know how much I appreciate all of the offers to help our family. Thank you for being so very supportive and concerned. If I have been distant, it’s not because I do not appreciate your love and support. It’s been very hectic with all of the appointments recently as well as getting ready for our Utah Rare events in a few weeks. If you have time, please look at the website www.utahrare.org. I am working with an amazing group of people. I have felt honored to be a part of it. I will be speaking about our journey through a diagnostic odyssey at the symposium on Saturday, February 28^th.

Once again, thank you for your love, your support and your prayers.

Much love,

Gina