Josie is our third child and has been such a light in our lives since we found out we were pregnant with her. She was a beautiful baby and toddler, always making us laugh and such a sweet little girl.
It was in her first few weeks of kindergarten that her teacher suggested something was going on, and perhaps she wasn't seeing the board as well as we thought. She already wore glasses so we had her eyes examined again. The optometrist referred us to Cincinnati Children's Hospital. After an eye exam there, we learned her lenses were slightly subluxated, indicating an underlying issue. About a month and a half later, Josie was diagnosed with homocystinuria, two week shy of her sixth birthday.
We were surprised at the diagnosis and the rarity of the disease. Her newborn screening card was pulled and her methionine levels had been within the acceptable range. We had never heard of a metabolic disorder. We are very fortunate to live 10 minutes from Cincinnati Children's which happens to be the number 2 children's hospital in the nation and houses a metabolic clinic within its Division of Human Genetics. Through our geneticist and dietician, we learned more about how to treat HCU. As her parents, we also took it upon ourselves to research it. We read every medical article on HCU, listened to every lecture and scoured the internet for any shred of information on this rare and often misdiagnosed condition.
No one we knew had ever heard of a low protein diet. In fact, this is the complete opposite of every societal trend right now. Who knew regular pasta and bread are loaded with protein? Fortunately, there are two other trends right now that greatly benefit the low protein community - - - gluten free and plant-based diets. Both are naturally lower in protein and methionine.
After the initial diagnosis, it took weeks of trial and error to learn that she was non B6 responsive. She has been on a low protein diet since January of 2018. She takes medication and supplements each day as well as vitamin B6. Every gram of protein she ingests is accounted for on a spreadsheet. We weigh and measure her food very carefully. Her diagnosis has meant making adjustments. For Josie, animal products are treated as a garnish. It takes creativity to adjust our family meals to make a version that is low protein. Our typical dinners are lasagna, tacos, pizza, grill out, pasta night, loaded baked potatoes etc. All of these, with the help of some medical foods and vegan options, can be made low protein and very tasty. She loves her vegan cheese, coconut milk and coconut ice cream.
Cincinnati is known for “Cincinnati Chili.” Our favorite is Skyline. A typical three-way (as we call it here) consists of spaghetti, secret recipe meat sauce (the Greek style chili) and loads and load of freshly shredded cheddar cheese. A regular size three-way has 45 grams of protein! Fortunately, our local Skyline lets us bring our low protein pasta, vegan cheese and even our own oyster crackers. We measure out the sauce for a delicious meal for her that is less than 10 grams. It’s Skyline time! (Shameless plug for our favorite chili - no we do not own one unfortunately). While we eat 90% of our meals at home, we do have pizza places that offer gluten free crust as well as Daiya vegan cheese which makes for a great low protein option.
Josie is becoming her own advocate. She excels at school, plays the piano, sings, does swim team and dance. We are confident she is the only child in her whole school who knows what methionine is and is ready to tell you. She is funny, sweet and confident. As we tell our children, many, many kids (and adults) deal with special issues on a day to day basis, whether it is food allergies, diabetes, autism, etc. HCU is one of these and as a family, we tackle it head on. Yes, it requires time and creativity but her blood results are worth it
The April 2018 HCU America conference was amazing. Making the connections with other families was invaluable. We are so excited for the next conference and will be attending as an entire family.
As we are coming up on one year since her diagnosis, our overwhelming feeling is one of gratitude to God for all the blessings since this diagnosis. We are thankful we got the diagnosis when and how we did. We are grateful for her excellent team at Children's. We are grateful for low protein food producers and her medication and supplement producer. We are grateful for Margie McGlynn, Danae’ Bartke and the entire HCU Network America board. The timing of the inception of this organization and its conference relative to Josie’s diagnosis can only be termed providential. And of course, we are grateful for Josie, who makes us smile and laugh every day and is always willing to try a new food.
Our advice to newly diagnosed families is this:
- Equip yourself with as much knowledge on this as possible.
- Reach out and use the support of the HCU America community. You are not alone!
- Give yourself some time to figure out how to navigate the diet, the medicine, etc. It takes lots of trial and error and patience.
- Help your child to become a self-advocate.