Lucy Szajnuk
This is a section of Lucy’s story from The Szajnuk’s Journey
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 years, 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 six years old, Lucy lives in pain every single day. What is her future going to be? This scares me every single day. She even 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.
Symptoms:
- -Fatigue
- -Tires after a short amount of activity
- -Pain in her legs, stomach, elbows, and hands
- -Sensitive to noise and sun
- -Falls asleep when she gets overwhelmed or hot
- -Dark circles under her eyes & extremely pale
- -Stomach hurts daily – usually after she eats a meal
- -Falls asleep when she eats meals
- -Bruises easily
- -Easy Satiety
- -Irritable
- -Very emotional
- -Lips get bright red starting early evening
- -Ears get bright red starting early evening
- -Hands – especially the finger tips – bright red starting early evening – and hurt
- -The bottoms of her feet get red as well and hurt
- -Nightmares
- -Night sweats
- -Hoarse voice
Learn More about #UndiagnosedDay, Undiagnosed Rare Disease Day
ABOUT RUN
RUN stands for the Rare & Undiagnosed Network. We’re a group of advocates, patients, families, researchers, and healthcare providers who share the same mission and vision: To empower rare and undiagnosed patients and their families with genomic information and community through advocacy, networking and support.
Contact information:
Gina Szajnuk (Zanik)
Co-founder and Executive Director
E: ginaszajnuk@gmail.com
C: (310) 883-4353
To Read: “What is the hardest part of being undiagnosed?” by Gina Szajnuk
To Read: “Undiagnosed is a Diagnosis” by Ava and Gina Szajnuk
To Read: The Szajnuk Journey
