Spending the Holidays with yet another urgent care visit, ER visit and hospital admittance, it made me realize how much I wanted 2015 to end.  We need 2016 to be the year we finally get answers for our three undiagnosed children. Happy New Year to all of the rare and undiagnosed families living in the world of the unknown. We are right there with you! We will continue to be there for you. And, we will continue to pray for more answers, less pain and less financial stress from ALL of the medical bills. From our RARE family to yours…we pray for a better year in 2016!!

We spent Christmas day with all three children cuddling on the sofa. They didn’t feel well and we didn’t push them. Oskar and Lucy both had high fevers. All three children were exhausted. The next day, Saturday, Lucy came up to me and asked for something to scratch her throat. I asked her why and she explained that her mouth hurt and it was really itchy. I ran to get a flashlight. When she opened her mouth, I couldn’t believe it. The roof of her mouth was full of red bumps and her tongue and sides of her mouth were full of white spots. I immediately thought of strep. My father is a doctor but he wasn’t home at the time. My mom called him and he said take her to the urgent care to have her checked for strep.

We learned quickly that being away from our home hospital was going to be an issue. I took Lucy to our local urgent care center here in Wisconsin. The nurse swabbed her for strep. As we waited the fifteen minutes, I let Lucy watch a DVD on her portable player.

When the doctor walked in, he said, “When a doctor walks into the room, your child must take off their headphones and stop their DVD player.”

I responded, “In my experience, a doctor usually sits and speaks to the parent for a few minutes to get their medical history and to have them explain why they are there for a visit.  Lucy has the DVD player because she has a lot of anxiety…”

At that point, he interrupted and asked,”Is her anxiety documented?!”

I replied, “Yes. And, I have a letter explaining her medical conditions. Would you like to read it?”

He replied, “It isn’t necessary.”

What?

Since she tested negative for strep, it was very clear that he was not interested in learning anything about Lucy. I asked him again if he wanted to know about her medical history and why I was concerned. He replied, “No. If you think she needs to be seen again, you do not need to come back to urgent care. I can give you the names of a few local pediatricians that you can discuss her history with if you feel it is necessary.”

What?

At that point, I just wanted to get out of there.

By the time we got home, her hands and feet were covered with bumps. We were now thinking of Hand, Foot and Mouth Disease (HFMD). I checked the rest of her body. She started to get bumps on her buttocks and all over her legs. She wasn’t able to walk and she was definitely dehydrated. She was fading quickly. I took her to the Emergency Room at our Children’s Hospital here in Madison. By the time we arrived, it was clear that Lucy was in pain and not herself. They monitored her for a few hours. The red bumps were spreading fast and she was getting more lethargic.

Thankfully, I had brought a letter that was written just a week ago by our geneticist and it was on the University of Utah and Intermountain Healthcare letterhead. It detailed Ava, Oskar and Lucy’s medical conditions and their medical history. It was a game changer! It gave me instant credibility. The ER team not only listened to me right away, they respected me. They asked what I thought we needed to do for Lucy. I was a partner in her care. I wasn’t seen as a mother that was exaggerating her daughter’s condition. I was seen as someone that knew what they were talking about and that my input mattered. After reading the letter, the ER doctor actually remembered Lucy from her previous week spent in their hospital during March, 2014. He had never seen a child with an autonomic neuropathy before he met Lucy. In 2014, Lucy was admitted into infectious diseases when she ended up having four different viruses and a ruptured eardrum. It was then that we realized that due to Lucy’s autonomic neuropathy, her body handles even just one virus more seriously than a healthy child getting a virus. It hits her quicker and harder than other children. She has been in and out of the ER many times this past year just due to getting a virus.

The ER doctor and I agreed that we needed to give Lucy the best chance that night to beat the virus. By 12:00a, we agreed she needed to be admitted for fluids and pain management. It took over an hour for the team to find a vein for her IV. They had to bring in an ultrasound to find a vein. She was clearly dehydrated and she needed fluids. They gave her Versed, Toradol and Morphine through the night to manage her pain. She was a trouper! She was pretty funny after the drugs and was pretty high on the Versed and sang, “Let It Go” from FROZEN over 20 times:)

We spent just one night in the hospital. Lucy woke up and was a different child. She had energy and was more like herself. I truly believe that giving her the fluids and the pain medicines gave her an edge on the virus instead of having the virus take her down.

We came home Sunday afternoon. She was still in pain in her mouth from all of the sores but it was definitely manageable with Tylenol and Ibuprofen. The ER doctor sent me an email that day.

“Dear Gina,
I hope Lucy is doing better today and gets to go home soon.

Wishing you the best for your family especially your three special children..

Michael”

Thank you to the ER team for taking such good care of my Lucy…

The letter I brought with me from Utah was written by Dr. John Carey, one of the top geneticists in the world. This letter was crucial in the care that was given to Lucy. I learned something in that moment. It is crucial for every single rare or undiagnosed child to have a letter explaining their child or their children. If you are traveling, it is even more important to have a letter or an action plan. One of our specialists told me over a year ago, we needed to have an action plan. When I asked our geneticist to write the letter, he did it right away. He was the perfect doctor to write the letter. He knew everything about our children and summarized their constellation of symptoms, their complex conditions, our family history and our extensive workups perfectly. (If anyone is interested in reading his letter, please let me know. It is a good example of what every family should carry with them when navigating the medical system.)

NOW ON TO AVA….

When I got home from the hospital with Lucy, Ava came right up to me and said, “Look at my hands, my feet and my legs!?! Mommy, I’m scared!!”

Ava has had this “mast cell” like rash a few times previously but not like this. I was scared. Since we do not know what the “root cause” is for Ava’s medical condition, genetic dysfunction/autonomic neuropathy, we have no idea what was causing this outbreak?  Was it a reaction to the virus Lucy had but manifesting differently? What are these red hives?

I emailed my pediatrician back in Utah with the pictures. His nurse called me back and explained, “He looked at the pictures. He said to watch her skin and if the redness turns to purple, then rush her to the ER.”

I asked the nurse, “What does it mean if the redness turns to purple?”

She replied, “He didn’t say. He just wanted me to make sure you knew that you needed to take her to the ER IMMEDIATELY.”

So, Ava and I obsessively watched her skin to make sure it did not turn purple. Thankfully, it did not turn purple!

She has been very tired and not herself this week. I could tell she was worried and she knew I was worried.

Unfortunately, the redness was still there the next day and the day after.

We don’t really know what to do. Today, the redness is still there on her legs but her hands and her feet look better. It’s scary to see her skin look like this and not know what is causing it. I can’t imagine being an eight year old and having to worry about what is happening inside of your own body.

We are fortunate that we have an appointment this Tuesday with our previous doctors from the Children’s hospital in Milwaukee where Ava had her four cranial surgeries in 2013. We are meeting with two of the top autonomic specialists in the world. We had this appointment on our calendar for over six months. Ironically, the timing could not be better. We hope that they can help us understand what is happening with Ava right now. We also have a list of concerns to address with them for all three children. We hope they can help us this week. We pray they can.

Thank you for sharing in our journey this past year. There were so many lessons learned and huge strides made in 2015 not only for our family but for RUN. However, we have such a long way to go!

I will continue to support the rare community and to help raise awareness for all of the necessary changes needed for families living in the world of rare and undiagnosed.

To all of the families that have been there for us this past year, you are such an inspiration.

Through all of you, I have the strength to keep going.

Through all of you,  I am motivated to continue on this journey with RUN.

Happy New Year! Here’s to a safe and healthier 2016!

Love is Everything!

Much love,

Gina

For More of Lucy’s Journey

For More of Ava’s Journey

For More of Oskar’s Journey