Thank you to this month's "My Beautiful CHILD" guest blogger, Gina Szajnuk, for sharing her family's diagnostic odyssey.
My name is Gina Szajnuk and I am the mother of three children, Ava, Lucy, and Oskar. Each have an undiagnosed genetic dysfunction. I too am undiagnosed. We live in a diagnostic odyssey times four. Since the beginning of our journey, we have been to eight hospitals in now five states.
We are diagnosed as having an undiagnosed rare disease. Our diagnostic journey began when my oldest daughter, Ava, was three years old. She had a bump on her head that bothered me. I went to my pediatrician at the time and asked him about it. He ignored my concerns for almost six months. I went back a final time and pushed for a referral to a neurologist.
He sent us to a neurosurgeon just to placate me. He was actually surprised that the neurosurgeon even ordered a MRI. The MRI showed that Ava had a large arachnoid cyst. I remember it like it was yesterday. I was so scared about her future and I jumped into researching every single thing about arachnoid cysts. We learned that people can live their entire lives and not even know they have one. The neurosurgeon explained to us that we should do nothing at this time because her brain and the arachnoid cyst were happy neighbors. He suggested that she should not plan on playing any ball sports such as soccer, basketball, volleyball or softball. He suggested that she never ride a horse or snow ski.
He told us that she should have a MRI every year for the next few years. This was our first introduction into the world of the unknown. Will she live her entire life just fine with the arachnoid cyst or will she die at an early age from the arachnoid cyst rupturing? I wish we could go back to the time when Ava just had an arachnoid cyst.
Continuing the journey...
Our diagnostic journey continued on. Ava's hands turned red and it spread to her legs, her face, and her torso. We took her to five hospitals in three states to try to find answers. She was in pain daily and fatigued quickly. We went to a neurologist in Chicago who told us to just accept the “unknown.” She suggested I read a book written by a mother that has a 24-year-old son that was undiagnosed. I was not
going to accept her advice. I moved on to the Mayo Clinic in Rochester. When we met with the specialists, Ava received the diagnosis of an undiagnosed autonomic neuropathy. An autonomic neuropathy is everything your body does naturally like digestion, breathing, heart rate and temperature control.
We soon learned that both her younger two siblings had the same undiagnosed autonomic neuropathy, a genetic dysfunction. Our diagnostic journey was now expanding into a diagnostic odyssey times three.
Ava was cleared by her neurosurgeon at age five for another three years during April 2013. A few days later on May 3rd, Ava hit her head during a pillow fight with a babysitter. She started to have intense headaches and she would scream like a wild animal. We asked for another MRI and she finally had one seven days later on May 10th, 2013. The MRI showed that her arachnoid cyst was still stable after she hit her head. However, she was still screaming in pain or in too much pain to even speak. She would sit on her pink beanbag for hours and just stare at her new puppy we bought her to try cheer her up.
She did not attend school in May and we were running out of options. We went to four different neurologists in Illinois, Minnesota and Wisconsin and begged for something to help with her pain. We tried several medications and tortured Ava several times daily by forcing her to drink them.
She spent her sixth birthday at the Mayo Clinic having a Toradol IV/IM (ketorolac). It did not help take the pain away. We were then told to “take her around the block for a walk to reset her neurotransmitters.” We were very frustrated and returned to Illinois. In the weeks that followed, we were sent home from the emergency room (ER) around eight times with Tylenol and a note in her file saying, “No need for further testing.”
On Thursday, July 13th, 2013, we were desperate and finally took her to yet another hospital in Wisconsin, Children’s Hospital of Wisconsin. We were begging for help. They called the neuro team down to the ER. The neurologist told us that they did not do consults in the ER and that we should come back on Tuesday. My husband, Justin Zanik, and I refused to leave. The ER doctor agreed to keep her a few more hours based on the level of pain she was in at the time. Ava began to complain that she could not see anymore and that her spine in her neck was hurting. She ended up having papilledema (or papilloedema). This is when there is an optic disc swelling that is caused by increased intracranial pressure. They agreed to admit her and planned to have a MRI, MRA, MRV and a lumbar puncture the next morning.
Ava screamed like a wild animal all night long. They gave her the following pain medicine in this order: Toradol, Compazine, Benadryl, valproic acid, and Valium.
None of the above medicines took her pain away. At 4:30 am, they gave her morphine. She finally fell asleep for two hours. I videod her all night long; not because I thought I would share it later, but because I thought she was going to die.
Ava ended up having a subdural hygroma and endured four cranial surgeries. She is now shunt-dependent. We spent six weeks in the hospital. If my husband and I would not have advocated for our daughter, she would have been blind and most likely dead.
This experience with Ava changed our path in life.
It gave me a mission. I needed to help other families advocate for themselves. I never wanted another family to go through the pain and suffering that we went through with Ava. I wanted to empower other mothers and let them know that the doctor is not always right. A parent knows when there is something wrong with their child. You need to stand up for yourself when no one listens to you. You must keep pushing on the medical system for help. You must continue to find the one doctor that can help you.
The Big Move
After we were released from the hospital, my husband accepted a job in Utah with the NBA Utah Jazz. We moved there during the fall of 2013. Our lives changed drastically and we had to start over with our medical team. We were very blessed to be in a city with one of the top adult hospitals, University Hospital, as well as one of the top children’s hospitals in the country, Intermountain Primary Children’s Hospital. We set up our specialists and met with an incredible genetics team. The team back in Wisconsin continued to care for us as well. We now had two hospitals focusing on our genetics and our care. Our team in Wisconsin had our whole exome sequencing (WES) done clinically and covered by our insurance for a “quint analysis,” which is where they sequenced our family of five but only analyzed Ava. We fought for over a year to get this approved through our insurance. We had tried for whole genome sequencing (WGS) and we were denied. We tried for WES to be analyzed for all five of us and we were denied. What the quint analysis told me from the insurance company that Ava’s life was more important than Oskar’s life and Lucy’s life.
However, we were very happy to get our family sequenced through the Children’s Hospital of Wisconsin and we were blessed to have been able to keep our data. The lab sent us five thumbdrives with our WES data on them.
This was an incredible win for us as we were then able to share the data with five other groups to be analyzed - Tute Genomics, Rare Genomics Institute, Utah Genome Project, MyGene2 and the Undiagnosed Disease Network (UDN). Our journey came out of the four walls of the hospitals and into the world of genetics.
We were now on a diagnostic odyssey times four - Ava, Oskar, Lucy and me. Through this journey with the children, my health deteriorated drastically. We have seen over one hundred specialists. We have a constellation of symptoms that range from eosinophilic esophagitis (EOE), temperature intolerance, fatigue, pain, motility issues, dysautonomia, severe aggressive progressive osteoarthritis, small fiber polyneuropathy and many more. Unfortunately, we did not find an answer through our WES so our next mission was to have whole genome sequencing (WGS) done for our family and for my parents.
We have had our WGS and analyzed already by the Utah Genome Project at the University of Utah as well as by the Undiagnosed Disease Network (UDN). We are so very thankful to have been accepted into the UDN, a research study that is funded by the National Institutes of Health Common Fund, this past year and to be working with their team in the UCLA Human Genetics at David Geffen School of Medicine at UCLA.
We are also going to be working with MyGene 2 and the University of Washington Center for Mendelian Genomics (UW-CMG). They will be analyzing our WGS as well. They sent us saliva collection kits to our home recently and we sent them back. It was incredible to be able to do it from our home and without drawing blood. We look forward to seeing their results as well.
My Greatest Inspiration
The children still suffer daily in pain. Their only medicine is distraction. They are cognitively doing great, but they have these bodies that do not work correctly. They persevere and are such an inspiration to me. They tell jokes and laugh often. They love their extended family and their friends. You only have one body in your lifetime. You have no choice except to fight for yourself and for your future. My three children have taught me to keep fighting for a diagnosis, a cure and a treatment. I want it for me as well. As a mother living with pain daily, I am scared for my future. I know what it feels like to just feel horrible. I lived my first 34 years as a perfectly healthy young woman. When I gave birth to Ava, my body changed. When I went through the stress of Ava’s four cranial surgeries and our move to Utah, my disease process progressed drastically. I just feel blessed to still have my Ava with me and that we have a very blessed opportunity to keep fighting for answers for all four of us and for all of the rare and undiagnosed community. This journey inspired me to do more. Much more.