Disability + Differences Spotlight || Auri

Natalie Winters is a wife and mother of three young children (Maximus, 6, Lennox, 4, and Aurelia, 2). Her daughter Aurelia (or Auri) met all developmental milestones until her first birthday when her husband and she began to notice something was off. Auri was diagnosed with Aicardi-Goutieres Syndrome (AGS) when she was fourteen months old.

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Miggy: Hi Natalie, and welcome! Thank you so much for being here today and specifically sharing about your daughter Auri. First, can you take me back to the day you knew something wasn’t quite right with your daughter? Was this before birth, immediate after, or sometime after that? If applicable, how long did it take you to get a diagnosis? Do you remember how you felt? Can you compare those first thoughts and feelings with how you feel now?

Natalie: We began noticing that something wasn’t quite right around Auri’s first birthday. Initially, her left foot starting curling inward; and she scrunched her toes when she pulled to stand. At her one year appointment, the pediatrician thought Auri might need physical therapy. But, since she had been developing normally, the doctor had no concerns. About six weeks later, it was clear that Auri needed something more. We called the pediatrician, and she referred us to Duke neurology, who said we should take Auri immediately to the ER. That was scary, and we took two days to make the decision and go. After an MRI and lumbar puncture, the doctors believed Auri had a leukodystrophy. She was diagnosed on January 24th, two and a half weeks later, when her whole exome sequencing identified a mutation in her IFIH1 gene known to cause Aicardi-Goutieres Syndrome or AGS type 7. These past ten months have been a long rollercoaster, and we’re incredibly grateful for where we are now compared to where we were then. Life brings unexpected experiences, and this one has taught us to appreciate every day and every new accomplishment that Auri and our sons achieve.Miggy: Can you explain a little about Auri’s needs and how her needs affect your day-to-day life?

Natalie: From Auri’s initial ER visit to her diagnosis and beginning of treatment, she lost the ability to floor sit independently, crawl, pull to stand, walk with a walker, drink water, and use her hands functionally. She’s gained back a good amount of hand function and is starting to scoot on the floor independently for a foot or so. As one can imagine, we do everything for her; and she loves to walk around, which does wonders for our backs! Ha! She is thankfully learning to using a gait trainer to gain some independence. She does physical therapy four times a week, occupational therapy once a week, and speech therapy twice a week. She also has feeding therapy and her Duke visits, each once a month. That leaves us one free day a week. Auri is a rockstar at handling these appointments which have been more in six months than I’ve had in my 34 years!

Miggy: What are the biggest worries you face for Auri? On the flip side, what are the hopes and dreams you have for her?

Natalie: Our biggest worry is that Auri will experience another developmental regression. AGS was thought to be a one episode and done disease, but doctors now understand that it’s a relapsing, remitting condition. We’re hopeful that Auri will continue to be on the upswing, but relapse is always in the back of our minds (as it surely is for all AGS parents!). My dream is for Auri to have the ability to communicate verbally, to drink water without thickener, to sit independently, crawl independently, stand independently, and walk independently. Her independence is our goal even if she doesn’t reach all of our dreams.

Miggy: Now for a lighter question, I’m a big believer in seeing the humor in life and learning to laugh, so have you ever had any funny conversations/moments you never imagined due to your daughter’s diagnosis? 

Natalie: Whenever Auri is standing and begins to tire, her legs “melt.” This is our little joke as we tell her to “stop melting.” Bringing awareness to her legs and feet are a biggy; so, when she loses her footing, I find myself asking her frequently, “Where are your legs?” Definitely, that’s  something I never thought I’d be saying on the daily. Auri thinks this is all very funny and has started doing it to be cute.Miggy: How can people best approach or respond to Auri? Is there something you wish other people knew so as to avoid awkward or hurtful situations?