In honor of Undiagnosed Disease Day, we wanted to bring you the story of the Szanjuk’s family. Below, the story is written by mother and advocate Gina Szanjuk.
I have three children that are officially diagnosed as Undiagnosed. They have an Undiagnosed genetic dysfunction.
I am Undiagnosed as well. We live in the world of the unknown.
We live in a diagnostic odyssey, times four.
I was born in Madison, Wisconsin and attended the University of Wisconsin – Madison. I graduated with a Bachelor in Communication Arts. I spent my twenties working in the entertainment world for Wes Craven, Jerry Bruckheimer and Miramax Films. I moved back to the Midwest and worked in the NFL and NBA sports agency business where I met my husband, Justin Zanik. He is currently the Assistant GM of the NBA Utah Jazz.
From Chicago, Justin and I moved to the East Coast where I worked in Manhattan for a private equity firm. We waited a few years to have children so that we were financially secure enough that I would not have to go back to work once we had our first child. I was making close to six figures back in 2006. I commuted two hours each way and worked up to a week before my due date.
We had money in the bank and big dreams ahead of having four children and the house with the white picket fence.
By the time we entered our third year of our diagnostic odyssey, our medical bills were astronomical and we could not pay our monthly bills.
Turning forty-three years old recently and fighting for the rights of Rare and Undiagnosed families was not something I saw in my future back in those early days of motherhood. I never would have imagined that I would know the names of geneticists like Dr. John Carey, Dr. Howard Jacob, Dr Stephen Kingsmore, Dr. Gunter Scharer, Dr. Lorenzo Botto and Dr. Mark Hoffman. I didn’t see myself working directly with Dr. Lynn and Debbie Jorde and the Utah Genome Project as well as the Undiagnosed Diseases Network.
I never would have imagined partnering with Dr. Reid Robison, Tute Genomics , to start a nonprofit, the Rare and Undiagnosed Network (RUN), or Chairing Utah Rare this year, a coalition of rare disease stakeholders formed to organize Utah’s recognition of Rare Disease Day. And, I never would have dreamed of becoming the Utah State Ambassador for the National Organization for Rare Disorders (NORD) as well as starting the Undiagnosed Alliance to raise awareness for #UndiagnosedDay on April 29th, 2016.
Our diagnostic odyssey has come out of the four walls of the many hospitals and into the world of genetics.
How many people have ever 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? Maybe through newborn screening?
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 children a better life. We all want our children to live their lives without pain and suffering. We all just want our children to live.
Well, here are our three children. We didn’t get to have the fourth child we planned on having to complete our family. We were told by our genetic counselors that it would be “irresponsible” to have a fourth child when you know you have three children with an Undiagnosed genetic dysfunction. I guess it wasn’t in God’s plan.
I mourn the loss of the fourth child every day.
We did not get the house with the white picket fence either.
Ava is eight years old. Oskar is six years old. And, Lucy is four years old.
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. Similar to many Rare and Undiagnosed families, we have had countless emergency room visits, hospital admittance and even lived at the hospital for six weeks. This is nothing compared to the many families living in hospitals around the world. I will not complain about six weeks.
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. Dr. John Ruge, our neurologist, ordered a MRI right away. Ava had a large arachnoid cyst.
This was my introduction into learning that my baby girl was not “perfectly healthy.” This was a wakeup 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 hell? 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 for a second opinion.
Ava started in rheumatology. They sent us to dermatology. They sent us to neurology. We ended up getting the diagnosis of “unknown” and she told me 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. I remember screaming crying on the floor one night at God and saying, “What are we supposed to do now?!”
The answer came back as DO NOT stop looking for a diagnosis. Move on to the next hospital. Move on to the next specialist. And, off we went…
The next stop for Ava was the Mayo Clinic in Rochester, MN. 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. Dr. Phil Fischer diagnosed Ava as having an “unknown autonomic neuropathy.”
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 we fought and received a repeat MRI. It did not show any changes 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.”
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, normal is 20. 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. She still gets the strange rashes. She now has been diagnosed with Eosinophilic Esophagitis (EOE), motility disorder, anxiety, temperature intolerance, dysautonomia, autonomic neuropathy and small fiber polyneuropathy plus many more…
Recently, we did a followup MRI. Ava still has her Arachnoid cyst, subdural hygroma and shunt. In addition, she has a subdural hematoma. Our neurologist emailed our neurosurgeon and asked how to handle since there is no protocol.
Since Ava is asymptomatic for headaches, he decided to do nothing. It’s a waiting game and we pray she stays asymptomatic. For Ava to have an arachnoid cyst, subdural hygroma and a subdural hematoma and to be cognitively perfect, she is a miracle child.
We are very blessed to have Ava here with us today. However, her issues inside of her head are only a part of her journey. Ava’s autonomic neuropathy causes her shoulders, tummy, legs and arms to hurt every day. She battles fatigue. We treat her with distraction. No drugs. Just distraction.
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 diseases. 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. I would go to Mayo with Oskar.”
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 their symptoms.
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 two last years, 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 each body part. It is exhausting to have one child needing to see many different specialists. It is not realistic to be doing it for three children in the current medical system now.
In the last two year, Lucy has been to the ER seven times and admitted three. A simple virus can take her down. A simple dog bite on Oskar’s soccer field took her down. Since there are no other children like mine, there is no protocol. Thanks to Dr, John Carey, we now have a letter stating our history as a family. When we were in Madison this past Christmas, Lucy became ill. I asked her what was wrong. She wanted to get something to scratch her throat. I opened her mouth and looked with a flashlight. It was horrifying to see inside her mouth. As it spread across her entire body, we realized it wasn’t strep or hand, foot, and mouth disease. It was something different. When we arrived at the ER, the doctor read Dr. John Carey’s letter and it gave me instant credibility, which was priceless. Lucy was admitted and it helped her get an edge on the unknown virus.
At four years old, Lucy lives in pain every single day. What is her future going to be? This scares me every single day. She recently started to lose vision and has been diagnosed with abdominal migraines with visual complications as well as complex migraines. She is four!?! A few weeks ago, she couldn’t walk for a few days. We took her into the ER again and she had X-rays taken of her legs. The bone structure of her legs were perfect. Why couldn’t she walk? The doctor in the ER felt strongly that it was from her unknown autonomic neuropathy. It is not easy to watch my youngest suffer in pain.
Now on to my journey
As I mentioned earlier, I am Undiagnosed. It has been an extremely exhausting journey with my children’s diagnostic odyssey in addition to mine.
I started having issues when I gave birth to Ava. I was “on fire” after my c-section. I kept the room so cold Justin got sick. I have been on fire ever since. When Ava’s head trauma and journey through hell happened, my body went to a whole new level of instability. I would check myself into the ER for a panic attack along with Ava for her headaches. I was on lorazepam for a year and a half. My distal joints all popped and I lost the strength in my hands. I felt like I was having a heart attack every single day. During one of Ava’s Mayo Clinic stays, I asked Dr. Fischer if I could have a workup done. He agreed. I saw every specialty and had around a million dollar workup there over about two years. They sent me back to Utah with a diagnosis of undifferentiated connective tissue disease and inflammatory arthritis. The University of Utah disagreed with their diagnoses and have labeled me as Undiagnosed with many different issues going on like EOE, aggressive and progressive osteoarthritis, hypertension, intermittent nocturnal hypoxia, and now I have myoclonic jerking all night. I have lots of blood levels off but not in a way that fits with any known diagnosis. I live in pain every day. I am fine with living in pain as long as I know I’m staying around for a few more years.
With all that said, we went out of the four walls of multiple hospitals and into the world of genetics. We started in Wisconsin with Dr. Gunter Scharer and his team, which included Dr. Howard Jacob. We agreed to fight for whole genome sequencing for our family of five in a clinical setting. We all thought we would have a good chance to push on the insurance industry since we had three afflicted children and two generations. I was so naive back then. I was sure we would get it done. I had a great genetic counselor, Regan. She spent hours and hours working on our three insurance letters.
I remember her saying, “Every day I think I’m done with the letters but then I see new research released that supports whole genome sequencing over whole exome sequencing.”
We were obviously denied. They actually had it in their policy, “At this time the clinical utility of such testing has not been established.”
So, we looked at doing whole genome sequencing with Dr. Jacob through research. Unfortunately, it wasn’t possible for us. The price tag at the time was $30,000, $150,000 for our family of five. When we were discussing all of this with Dr. Jacob, he promised if he did our sequencing that we could “own” our data. We were also in talks with Dr. Stephen Kingsmore at the time about doing whole exome sequencing in a research study. We would not get our data and we would not get our results. We did the research study and we have no idea what the results were of our whole exome sequencing.
However, we continued on with Dr. Jacob and his team. We went for whole exome sequencing through our insurance next. Denied.
We ended up getting a quint analysis approved for Ava. This meant that we were all sequenced but Ava was the only one analyzed. They found three variants: DBH, NAGA and SPG11. Justin and I flew all the way from Utah back to Wisconsin for the results. We were hoping for better news. Unfortunately, we did not find a diagnosis through whole exome sequencing.
The good news was that I was able to get our data on a hard drive. Thank you to my team at the Human Molecular Genetics Center at MCW for continuing to work with our family and making sure we were able to open and access the data on the hard drive.