The Szajnuks and the Undiagnosed Diseases Network (UDN)
Today is the one year mark for us with the Undiagnosed Diseases Network (UDN). Our applications landed on their desk last December, 21st, 2015. 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 year and to be working with their team in the UCLA Human Genetics at David Geffen School of Medicine at UCLA. We had hoped for a Christmas Miracle – a diagnosis, a treatment & a cure but our diagnostic odyssey will continue on in 2017. We feel very hopeful for the next steps in our journey. We were so impressed with the entire week, their program and their team. Dr. Stanley Nelson is our lead investigator with the UDN at UCLA Human Genetics. I loved meeting Dr. Nelson and learning more about his family and why he and his wife, Dr. Carrie Miceli, have dedicated their lives to helping the rare and undiagnosed disease community. Dr. Nelson is personally touched by rare disease. Learn more by reading: Two UCLA researchers combat lethal disease to save son and thousands like him: Their efforts have rallied others to the cause of defeating Duchenne muscular dystrophy as well as watching their video and reading their article in People Magazine: Two Scientists Vow to Find a Cure for Their Son’s Rare and Fatal Disease: ‘I’m Proud of the Work My Parents Are Doing,’ Says Teen
Since Ava, Oskar, Lucy and me were all accepted into the program, we were able to have two more adults join us. It was one adult per child. 
This allowed for my in-laws, Carla and Jim Oliver, to join us for the week and their flights, hotel and rental car were paid for by the UDN. Justin was able to be there for the first few days as he was scouting a few players at UCLA before he flew off to Turkey for some more scouting.
The week started off with a long day of flying with the children. They handled the trip well but we got in pretty late. I was proud of them for hanging in there through a late dinner out.
Monday started early with Lucy’s neuropsych evaluation. It was a long few hours and then we were joined by the rest of the family for our first meeting with the team. The entire team was kind, compassionate and ready to take on the Szajnuks. We jumped right in with skin biopsies for all five of us. I was so interested to learn about how the cells will be used from our skin biopsies and that our cells will live on forever in sunny California!
Justin went first for the skin biopsy and he was trying to show the kids that it would not hurt.
Oskar and Ava didn’t buy it but Lucy did. She went first out of the kids. She didn’t cry once and was actually singing a happy tune during it:)
I couldn’t believe it! I was so proud of Lucy during her skin biopsy. Dr. Nelson was so kind to the kids and took his time to answer all of their questions. Oskar and Ava got through it too but there were definitely tears. We now have a Szajnuk family scar:)
We spent a few more hours going over the children’s history and making a plan for the week. Oskar and I moved on to his neuropsych evaluation while Jim and Carla took the girls to lunch and Justin was off to watch a practice.
The day ended about 5:00p for me and we were off to a fun family evening at Benihana.
Tuesday started with Ava waking me up to tell me that she was bleeding on the back of her head. She was picking up a toy from her bed and hit the back of her head on the corner of the nightstand. The cut was really deep and blood was dripping down. We rushed to the emergency room where we had to put two staples into her head. This immediately brought both Ava and me back to her four cranial brain surgeries where she had staples put into her skull four different times.
Needless to say, it wasn’t the way we thought our day would start. Ava was a trouper and we were off to meet the family at the UDN meeting. We went right from the staples in her head to all three children and Justin having to give blood. I was then put in another room for my muscle biopsy.
It was good to have Jim and Carla there as I could hear the kids screaming through the wall. I was proud that I didn’t cry during my procedure as it was definitely not fun. I had asked for Valium but chose to do it without taking anything. I did not want to be altered for the rest of the day as we had a lot more work to do and I was hoping for a date night with Justin. Dr. Nelson performed the muscle biopsy perfectly. His team kept me talking so I didn’t think about the pain. Distraction is the best!
After the muscle biopsy, it was my turn to give blood.
During the afternoon meeting with the specialists, it became pretty obvious to the team that my health is suffering the most right now in our family. With everything Ava, Oskar and Lucy have gone through, they are pretty stable in their chronic pain and chronic issues. As we say, there isn’t anything “acute” right now. We aren’t like other families battling a life-threatening demon today. We are in this battle for a lifetime. We are trying to find the answers to stop the chronic disease process. Thankfully, they are surviving right now and persevering. For me, it was hard to have my in-laws, my children and my husband listen to the doctors access my body, especially my hands. When she asked me how do I really feel inside, I started to cry. I explained how I hurt so much everywhere every single day but I know I don’t look like it from the outside.
The specialist then measured my hands and my fingers. Your fingers and your hands are supposed to be the same length. For some reason, my fingers are shorter than they are supposed to be. When they looked at my distal joints (DIP), they were shocked to see how deformed and large they were. They decided to order X-rays of my hands and my spine. We went over all of the issues I have right now but we decided to focus on my Eosinophilic esophagitis (EOE) and my arthritis. We put my Dysautonomia and a few other issues on the back burner for right now.
We went from that meeting to Ava’s neuropysch evaluation. My in-laws then picked Ava up and I went on to my X-rays. Needless to say, Tuesday was an extremely long emotional and physical day. The good news is that Justin and I jumped in an Uber and headed to one of our favorite restaurants in Santa Monica for a much needed and emotional date night. We discussed a lot of issues surrounding my expectations, our medical issues and the journey we have been on for so many years. Justin will be traveling so much in the next month that my alone time with him is very important and means so much to me. He lands tonight and leaves again on December 25th, Christmas. He will not be home until January 6th.
The best thing that the UDN did for our family was give us one day off! We had Wednesday to spend as a family! While our UDN team was working away on our family, we had the best day ever! It was much needed and very much appreciated! We jumped in the car and headed to the beach! This was the first time Lucy had walked on the beach.
The kids hit the sand running and we didn’t stop smiling and laughing for over an hour. Ava and I had prayed to see dolphins and we were blessed to see many dolphins swimming in the waters in front of us. We have not had a family vacation in over three years. This was one day of a “family vacation” that we much needed and appreciated. We pray for many more vacation days ahead.
As the beach has always been my happy place, it was such a blessing to share it with my three children, my husband and Jim and Carla.
During the middle of such an emotional week, we were able to have pure joy and some much needed happiness. We laughed that most families would think it was too cold to be without shoes and socks in the cold ocean water but for our family…66 degrees was perfect for our beach adventure!
We were off to a fun lunch and then hit the Santa Monica pier. We were able to do more than normal because we were determined to have some fun on this trip and we only had one day to do it! Thankfully, the weather agreed with us!! Thank you to the UDN for the day off!!
The next morning, we said goodbye to Justin and we were back in the room to meet with more specialists. We had a full neurological evaluation for all four of us for a few hours and then we met with an allergist/immunologist. All of the specialists were wonderful but it was a lot to go back through all of our medical histories.
The day was long but we were extremely appreciative of the workup. We ended up crashing Thursday night as we encouraged Jim and Carla to have a date night of their own.
I think Thursday night was the hardest for me. I had a breakdown and cried. I knew there wasn’t a gene that was a smoking gun right now like we were praying for. I knew tomorrow would be a wonderful discussion about next steps but it wasn’t going to be the Christmas Miracle I have been praying for all of these months.
On Friday, we met with the team at noon. We recorded the conversation for Justin to listen to later. The discussion was very hopeful and the team is truly dedicated to finding a diagnosis for our family.
There is nothing in the data that we see right now that ties everything together. They will be reanalyzing my data as well as my parents’ data. Since nothing is obvious in the data as of now, they will go back to look for causes of my EOE, my arthritis and my dysautonomia. These are the three priorities for them at this time. They will look at the RNA sequencing from the muscle biopsy to see if there are any genes that are defective. They will look at different characteristics of the fibroblasts in the cells from the skin biopsy. This will all take at least another four months.
What was upsetting to me was that we learned from my hand X-rays is that not only are my distal interphalangeal (DIP) joints severe with osteoarthrosis, it is also now in my triscaphe and first carpometacarpal (CMC) joints. I wasn’t aware that it was in the next set of joints and I’m scared to death about the progression of my hands. I am only forty-three years old. What will they be like in twenty years? Both of my grandmothers also had crippling arthritis in their hands at an early age. I remember them in their later years and I remember what their hands looked like and how much pain they were in. If you think about everything you use your hands for and imagine crippling arthritis and pain, that is me. Typing, cutting food, laundry, cleaning, writing…it all hurts. I will now be searching for the top hand specialists in the country/world to find out what types of treatments are out there for slowing down the aggressive, progressive degenerative osteoarthrosis. If anyone has suggestions, I am listening!
The UDN will continue to be working on our family. Matthew Herwog is my contact person at the UDN. We have been working together for a year now as of today!?! He wrote a wonderful email to me when we got back from our trip. I think he summarized it all very well:
“Thank you for the kind words, and I know I can speak for everybody here that we likewise had a great time meeting all of you. I also know you were hoping for more concrete information (and ideally a diagnosis and treatments) from the visit, but I want to stress that even though it’s been nearly a year since you started your UDN journey with us (Your applications came to us on 12/21/2015), this is really just the beginning for us at the UDN. Now we get to utilize all of the resources available at UCLA and the UDN to start figuring out how the pieces fit together. It’ll still be a slow process (the latest bit of genetic testing we’re doing is cutting edge) and we might not find the answers right away, but we’ll keep plugging away until we have something.” – Matt
Our diagnostic journey continues on in 2017. We didn’t have our Christmas Miracle – a diagnosis, a treatment & a cure. However, we are so very blessed to have yet another incredible team dedicating their time and expertise to our family. This is our eighth hospital in our fifth state. We are just so very thankful to have such amazing teams around the country focusing on our family. Thank you all from the bottom of our hearts.
We will continue to pray for a miracle in 2017 – a diagnosis, a treatment & cure.
Happy holidays and we pray for your family to be safe and healthy in 2017.
Thank you for your continued love, support and prayers.
Much love,
Gina
For more information on The Szajnuk Journey
In the next few weeks, the UDN will post a public facing webpage about Gina (me). Here is a link to the 15 public participant pages: https://undiagnosed.hms.harvard.edu/updates/participant-pages/
To apply to the Undiagnosed Diseases Network (UDN)
About the Undiagnosed Diseases Network (UDN)
The Undiagnosed Diseases Network (UDN) is a research study that is funded by the National Institutes of Health Common Fund . Its purpose is to bring together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies.
Through this study, we hope to both help individual patients and families and contribute to the understanding of how the human body works.
