Mary began having symptoms as an infant. Knowing what you know now, Slava, are there questions you would have asked the doctors but didn’t?
SLAVA: Mary’s symptoms looked to be neurological, but her condition was so unusual and so confusing. I didn’t know what kinds of questions to ask. Even if I had known to request blood tests, particularly an ammonia test, the test might not have shown high ammonia since Mary’s levels went up and down.
Also, sometimes Mary had symptoms and sometimes she didn’t.
What about Mary’s refusal to eat protein?
SLAVA: I didn’t think Mary’s protein aversion was serious. I just thought it was a preference. But knowing what I know now, I would have asked Mary’s pediatrician about why she didn’t want to eat meat. What could be the reason behind that? I also would have asked for a second opinion. I would have requested a consultation with a specialist, a metabolic doctor. I knew Mary wouldn’t eat meat. But I trusted her choice, even from a very small age, and I never forced her to eat protein.
MARY: But as a parent, my mother knew that a healthy diet is important. So it’s kind of like balancing your intuition and your children’s intuition and thinking critically about mainstream advice.
As a teenager, Mary continued to have episodes of high ammonia that required emergency intervention. What happened when you went to the ER?
SLAVA: We always presented the emergency letter from Mary’s metabolic team. Getting treatment fast was really important because when a crisis was starting, her condition would deteriorate really fast.
MARY: The letter from my metabolic team explains my condition and the protocols and steps to follow, and also says to call the team for consultation.
Sometimes family history can provide information relevant to a patient’s condition. Do metabolic disorders run in your family?
SLAVA: I had a cousin who died when she was a couple of months old. They thought it was due to a head injury, but the symptoms they described were very similar to the symptoms Mary had when she was born. That was about 45 years ago. There’s been nothing else since.
Mary, now that you have been correctly diagnosed with NAGS deficiency and are taking CARBAGLU that keeps your ammonia level low, do you still rely on your family for support?
MARY: I think I’m closer to my mom because of my condition. She doesn’t need to help me with what I eat or remind me to take my medication, but there’s an emotional component to having and managing a chronic disorder. You need to look at things like traveling and employment decisions in a different way. You have to decide who you’ll tell about your condition. Those are the kinds of things I talk to my mom about.
Having a chronic condition myself, I’m much more aware that there are so many other people with a variety of chronic conditions, from asthma to respiratory illnesses to everything else. My condition has given me a different perspective on life, and I’m grateful for that.
DISCLAIMER: This is an actual patient story as told in the patient’s words and the words of her mother, but names have been changed and a stock photo has been used to protect privacy.