Four questions with Stephanie Hendley
What do you want people to know about kids with metabolic disorders?
My daughter Ruby has methylmalonic acidemia. That means she has a deficiency in an enzyme that works with vitamin B12 to break down amino acids, lipids and cholesterol. A buildup of methylmalonic acid could impact her vision, kidneys or brain. If she eats too much protein, goes too long without food, or gets sick – like with a fever, she can go into a metabolic crisis or “metabolic stroke.”
Ruby’s condition was identified through newborn screening. We’ve known since she was 4 days old. We later learned that she has a relatively mild form of methylmalonic acidemia – she has the Mut minus form, which means that the enzyme’s activity has been reduced but not eliminated. So we’ve been able to manage most of her issues proactively. We’re thankful for that.
What are her special nutrition requirements?
She is on a protein-restricted diet: 19 grams per day. When she was little, Ruby was limited to 3 grams of protein per day. I learned a lot about what amounts of protein are in various foods. Even strawberries have a small amount of protein, so half a gram of protein here and there adds up!
She takes some metabolic formula every night. We wake her up at about 10 pm, so that she doesn’t go longer than 8 hours without some kind of nutrition. The rationale is: having the body go into a fasting state can contribute to protein or muscle breakdown. She also takes levocarnitine and a form of vitamin B12.
What kinds of obstacles do you and Ruby encounter at school?
We learned to be very vocal with day care teachers. I always provide separate food for Ruby, and I also ask the teachers to send back the food that she doesn’t eat, so that I know exactly what she did eat.
People who work with kids are used to dealing with allergies, so the idea of a metabolic disorder is not too exotic. Still, I have to be somewhat dramatic about the consequences of not following her dietary requirements: hospitalization or even death. We have a letter of medical necessity from our metabolic dietitian, Dr Singh.
Ruby is now in kindergarten, and she’s been able to engage in normal activities. However, she will develop fatigue faster than other kids. For example, at birthday parties, she can run around and play for about 30 minutes. But then she’ll experience a crash. That means we need to give her juice or something similar so she can get some quick calories.
What is something physicians and genetic counselors do well, when dealing with kids with metabolic disorders? What is something physicians and genetic counselors can do better?
Our experience with medical geneticists has been so great. They are very thorough and always available when I need them, like when Ruby was little and became very sick. In general, they’re very good at the diagnosis and the scientific part. But it can be difficult for them to convey what it’s like to live with this condition and what a lifetime of management will be like.
I’m a physical therapist, so I know enough about biochemistry and genetics to follow along. When I was learning about the details of her condition, I wondered: Is she going to be able to go to public school, or have swimming lessons, or a dance class? This is partly why I became involved with the Organic Acidemia Association: to get that perspective from someone who’s been through it.