LIVING IN A DIAGNOSTIC ODYSSEY, TIMES FOUR

Good afternoon. My name is Gina Szajnuk and this is my husband Justin Zanik. We have three undiagnosed children. Ava, is seven years old. Oskar is five years old. And, Lucy is three years old. I, unfortunately, am undiagnosed as well. We live in the world of the unknown. We live in a diagnostic odyssey, times four.

How many people here have heard or said:

“I don’t care if it’s a boy or a girl as long as they are healthy.”

We all want a healthy child with ten fingers and ten toes. Well, what happens if your child is born NOT healthy? Will the answers to the puzzle be found before the child dies? Where do you go if your doctors do not know what the “root” cause is? Do you spend years going to different specialists at multiple hospitals? Do you drain your savings to pay for trips to and from different hospitals in different states? Do you quit your job to stay home to care for your child?

We have met so many amazing people on our journey to find answers. There are so many heartbreaking stories of families suffering emotionally and financially trying to navigate their way through a diagnostic odyssey. All the families have ONE thing in common. They want ANSWERS to help save their children. They want answers to help doctors UNDERSTAND their children. They want answers so they can give their child a BETTER life. We all want our children to live their lives without pain and suffering. We all just want our children to live.

We have been to seven hospitals in four different states. We have seen over fifty specialists. And, we still do not have answers for our children’s health concerns.

My husband and I would like to share our story…I’m going to tell the emotional journey and Justin is close.

Our journey started with Ava. Ava was born healthy. When she was three, Ava had a bump on her head. I went to my pediatrician several times. He finally agreed to send me to a neurologist. The neurologist ordered a MRI. Ava had a large arachnoid cyst. This was my introduction into learning that my baby girl was not “perfectly healthy.” This was a wake up call. The news rocked my world back then. I remember being so scared. I remember the neurologist telling me that she should not play “ball” sports. No gymnastic. No horseback riding, etc. I remember thinking how much Ava was going to miss out in life. I thought that was such a big deal. I was so naive. I wish I could go back to where Ava “just” had an arachnoid cyst. Little did I know that Ava was eventually going to enter into the depths of pain? Real pain.

In the fall of 2012, Ava started to have different symptoms. Her hands turned red. The redness spread throughout her limbs and her head started to hurt. Temperature (heat and cold) started to affect her. Fatigue was playing a role now. And, she had “mast cell like” rashes that started. Her head started to hurt more. We decided to take her to a different hospital in Chicago.

Ava started in rheumatology. They sent us to dermatology. They sent us to neurology. We ended up getting the diagnosis of “unknown” and were told to read a book written by a mother living with a son that is undiagnosed. I never knew before this moment that a child could be undiagnosed. I must have been really naive. I thought doctors did not stop until they had a diagnosis for their patient.

The next stop for Ava was one of the Mayo Clinic in Rochester. I remember the specialist saying, “You never want to be interesting to doctors. And, Ava is fascinating!” We have heard that so many times with our children and with me. It’s not something to brag about.

During this time, we tested our house for everything from mold to meth. We were in a panic that there could be something in the house doing this to our children. It was a dead end too.

The next stage of our lives takes us off the autonomic train ride for a few months.

At the age of five, Ava was cleared by her neurosurgeon for her arachnoid cyst. The arachnoid cyst was “happy neighbors” with her brain. The neurologist cleared her and said to come back in three years.

Unfortunately, everything changed dramatically for Ava. She hit her head. And, she started to have horrible headaches. The word “horrible” doesn’t do it justice. She screamed like a wild animal. She could not function. She would sit on her pink beanbag all day and scream all night. We took her to the ER several times before they did a repeat MRI. It did not show any change from the previous MRI. Everything was stable. They accepted that her headaches were from hitting her head and labeled her headaches as coming from a post-traumatic concussion.

Ava continues to scream in pain every single day and night. I took her to about five different specialists within neurology. The pain came in waves. When we were in the ER, her head didn’t hurt every second. So, when the doctor came in and didn’t hear her screaming, they didn’t listen to me. I tried to tell them that she screams all night and they still didn’t believe me. More ER visits and two more different hospitals, no one rescanned her and no one truly believed us. My husband started attending all of the appointments and the ER visits. The doctors still didn’t listen. There is documentation in the notes from the second to last ER visit. “No further scans needed.” We were sent home on Tylenol.

A few days later, I put Ava in the car for yet another long drive to a fifth hospital. I called my husband and told him to meet me in Wisconsin. He said, “I will be there.”

Little did I know…we would be living there for most of the summer? Ava was in so much pain. The ER doctor called for a neuro consult. They came down and said that they would see her next week. This was a Thursday. No way. My husband and I refused to leave. Thankfully, the ER doctor agreed to keep us on the basis of her pain level. In the moments that followed, Ava started to complain that she couldn’t see and that her spine in her neck was hurting. She had papilledema and it later turned out her spinal pressure was 55. She was about to go blind and death would have been knocking on her door.

Ava had a subdural hygroma. She ended up having four cranial surgeries. Two external drains. One arachnoid cyst fenestration that didn’t work. And, is now shunt dependent. We still do not know if this was caused by a rupture of her arachnoid cyst or by whatever unknown is going on in her body. Ava is still undiagnosed.

We are very blessed to have Ava here with us today.

Now on to OSKAR

After finding out Ava had an arachnoid cyst, Oskar starting having issues. We had a work up done in Chicago for fatigue, leg pain, low-grade fever, and many other symptoms. Oskar started in infectious disease. They sent us to at least five other specialties. We ended up in oncology. The fear was leukemia. When it wasn’t leukemia, they were at a dead end. I remember the doctor telling me after months of tests on Oskar and many appointments that they just did not know what to do next. When I mentioned that we were told that Ava had an autonomic neuropathy, the infectious disease specialist said, “Well, I would follow that trail with Oskar. We have no idea what to do next.”

We eventually took Oskar along with Ava to a visit the Mayo Clinic where she was currently being treated for her autonomic neuropathy. Well, after that visit. Ava’s specialist was even more fascinated that there were two of them. Oskar even had epinephrine levels so high the NIH didn’t know what to make of it. We spent more time traveling six hours in the car and staying in hotels for yet another workup on Oskar.

It always comes back to Ava. With Ava’s trauma, we were off the trail for Oskar for about a year. I feel deeply guilty for stopping Oskar’s fight for answers. I didn’t have a choice at the time. I had to focus on Ava. When we moved to Utah and I started back up to find answers for Oskar, I was confronted by a specialist here at the University of Utah. She scolded me for grouping the kids together. She told me that Oskar and Lucy need to be looked at without talking about Ava. How was I to explain why I stopped appointments for Oskar without telling Ava’s story? Of course, she made me cry. She was right. I have to focus on Oskar now. I have to focus on Ava and on Oskar. Oskar is still undiagnosed.

And, I needed to focus on LUCY. Poor Lucy.

I feel like I missed an entire year of Lucy’s milestones. Lucy started showing similar symptoms in the spring of 2013. Fatigue, redness, pain in her hands, legs, feet and her tummy.

So now, we were off the charts on the “interesting” scale. We had three children with a suspected autonomic neuropathy, genetic dysfunction. Doctors still did not know how to treat the children.

When I take a second to look back everything, I feel like we skipped a lot of the “normal” doctor appointments that parents have for their children. We were escalated up the ladder so quickly with the autonomic neuropathy. We had to go back and start over with Lucy…and with Oskar. The children needed to see an ENT, sleep studies, etc. In the last year, we have found out that Lucy has central sleep apnea, she had her adenoids and tonsils out. There were issues we were ignoring due to the focus on finding answers in the big scheme of things. There are so many different parts of the body to focus on and so many different specialists to see for the body part. It is exhausting to have one child needing to see many different specialists. It is not realistic to be doing it for four children in the current system now.

And that’s when I express my frustrations on how the system is working now. I’m going to focus on me. Gina

As a mother of three undiagnosed children, I have had so much anxiety that my stress level was off the charts. I started to feel different during Ava’s trauma. I would check myself into the ER with her for a panic attack. My blood pressure was at 199/111. I have not yet been able to calm my body back down because we still do not have answers. I’m still in the fight/flight mode. I tried to be seen in Chicago by several specialists. I ended up crying for help at the Mayo Clinic when I was there for the children. I have been going there since June, 2013. One of the reports said that there are over two hundred pages of workup done on me and he does not know what is causing my aggressive degenerative disease process. I was there tis this past November and left without a diagnosis. The cost of flying back and forth to the Mayo Clinic for answers is physically and financially exhausting. It’s not an option for our family.

So, I am now trying to advocate for myself to find answers. I am working with a great team here at the University of Utah and I hope they figure what is the “root” cause of my illness. But I tell you, it’s not easy navigating the current medical system right now. It took months to get into the specialists. The specialists order the tests needed to help them rule out certain things and help them figure out the best treatment. But then, you have the insurance denying the test requested. The specialists do not have the time to spend fighting to get the tests approved so it comes back to the primary care provided. It eventually is a dead end. That’s where I am right now. A dead end. As my disease process continues, I am losing the use of my hands. I am in pain 24/7. My oxygen levels are low and my kidneys are not functioning at hundred percent.

I hope they find not just for me. It’s about my children. I tell each and every doctor I see the same thing. “Please look at me. Please know that I am the mother of three young children. I need to be here for them. Please help me.”

I started writing this speech over a month ago. I wrote it before we received the results to our whole exome sequencing. It took us over a year to get the insurance company to approve a quint analysis for Ava. We asked for whole genome sequencing for our family of five. Denied. We asked for whole exome sequencing for our family of five. Denied. After a year of fighting with them, they agreed to a quint analysis for Ava. This meant they sequenced all five of us but they only analyzed Ava. When they found three variants for Ava, they then looked for those variants in the rest of us. We flew to Wisconsin to get the results. We were nervous and excited. The disappointment came when we realized that this was only a NEW FIRST STEP in the journey now to find answers. It wasn’t the fix. We have a lot of work to do going forward. We need help. Just like all of the other rare and undiagnosed families living here in Utah and all over the country. This is an exhausting journey emotionally, physically and financially. Thankfully, I have been blessed with meeting other rare families here today. Thank you. We all need each other but we need to come together to make changes for our families.

Now, my emotions have taken over for me. Justin, can you close?

Justin:

Through the journey that we have and are currently going through, we have seen first-hand how difficult it is for families with rare and undiagnosed diseases to navigate the various hospital systems and structures that make up medical and diagnostic services here in the United States.

Our family has lived all over the country in the past 7 years. We have been fortunate to have the ability to go find the best specialists in the United States in our search for answers. However, there is not a high level of efficiency both in time and expense for doctors and for families. Every time you go to a new specialist in a different hospital system, you “re-tell” your “story”, tests are repeated multiple times and doctors have to be “caught-up” before they can begin to use their talents in searching for answers.

The other issue that complicates this search for answers is the constant battle with insurance companies in approving tests.   Without coordination and communication by specialists together on specific rare and undiagnosed cases, many tests, including genetic sequencing, are denied by insurance companies because they are viewed as “unnecessary” or even “experimental”. We as a family have gotten both of those types of letters before.

Regional Rare and Undiagnosed Clinics are just beginning to form through limited means with the NIH. There is an under-serviced market here in the Salt Lake, Inter mountain region and west coast of the United States. Salt Lake City is a regional hub, a place with outstanding doctors, geneticists, and researchers in their chosen fields that care a great deal about their patients. The problem is the current set up lacks efficiency in coordination, communication and team oriented or multidisciplinary focus, specifically for families who go through the current system and come out of it with no answers.

A Rare and Undiagnosed Clinic at the University of Utah would provide a place and designated time for these outstanding doctors to work together on cases that are rare and undiagnosed. It would let Rare and Undiagnosed families go to one place, and be seen by multiple specialists that are connected and communicate in a short period of time.

Insurance companies would be able to see that requests for uncommon tests are coming from a Rare and Undiagnosed Clinic and hopefully approve them at a higher rate because the peer-to-peer review is more robust with doctors that communicate and understand their cases.

Salt Lake City is already a place that families go to in this region for medical care, it would also quickly become a beacon for the rare and undiagnosed community in the inter-mountain area where there was not one before.

Thank you for your time.