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Jan. 27, 2022

TOPIC: Patients & Members, Patient Stories, Rare Disease Day

Rare Disease Day: Elizabeth’s Story

Posted by Maia Craig
This is a photo of Elizabeth

Leading up to #RareDiseaseDay on February 28, NORD is sharing stories from patients and caregivers impacted by rare disease. This week, we are sharing Elizabeth’s journey with SUOX mutation/late onset isolated sulfite oxidase deficiency. If you want to share your rare story in honor of Rare Disease Day, visit NORD’s website. 

I am the mother of a strong little girl named Elizabeth. She will be two in April. When she was five months old, she started having episodes of seizures and vomiting followed by weakness and muscle spasms. They occurred once or twice a month and have now gotten more aggressive. The episodes would start lasting 10+ hours. After an epilepsy panel was completed, her diagnosis came to light. She was diagnosed with the SUOX mutation/late onset isolated sulfite oxidase deficiency. It’s so rare that there were only 50 known cases in medical literature. Life expectancy is unknown for late onset isolated sulfite oxidase deficiency.  

Rare Disease Day is important to my family because it spreads awareness of rare and serious diseases. It teaches people about these diseases and helps people come together in their time of need. 

I encourage people to always be aware. Anyone can have a genetic disease and not even know. I believe that if someone asks their doctor for genetic testing, it should be accepted. When I first tried to get my child genetic testing, her old neurologist looked me in the eye and said “no, until we see a seizure on her EEG test”. Her new neurologist stated some EEGs will not catch a seizure unless it is happening.  

To my family and I, health equity means never putting your health above others. They could be fighting a battle you don’t even know. Always be kind and caring and work together for hope. 

On Rare Disease Day, I will be supporting my little fighter as well as those other lovely people with rare diseases. I will wear Rare Disease Day apparel and spread awareness with my friends and family. We plan to have a family awareness dinner. 

 To learn more or get involved with Rare Disease Day, please visit NORD’s Rare Disease Day website.