Anniston was born in November 2017. We were so excited for our beautiful healthy baby girl. We didn’t think anything of the normal routine newborn screening. No news was good news they said as we were leaving the hospital.
About two weeks after she was born we received a phone call from the health department saying one of the tests didn’t get enough blood and we needed to bring her in to be tested again. We still didn’t think anything of it. Turns out her levels were just at the passing line and wanted to be sure she was okay. When those tests came back the doctors were pretty positive she had HCU. All her pediatrician could tell us was information from an old outdated book. We were referred to a doctor 3 hours from where we lived to confirm. We were heartbroken. All the information we were given at first was so scary. Nobody in our families had ever gone through something like this. It was a lot of information to process. After they confirmed she did have HCU we started seeing a wonderful genetic doctor closer to home. His team has been extremely helpful with helping us understand all this.
After we had come to terms with everything we were struggling to feed Anniston. Pediatrician wrote it off as gas. It eventually got worse and worse. She would refuse her bottles all together. We knew our baby had to eat to develop as a normal baby but she also had this medical problem. She wasn’t gaining weight. This took an emotional toll on us. Turns out she had severe silent reflux. Finally 4 months after she was born we got her eating somewhat normal.
We found out early on that Anniston was b6 responsive but every time we would try the b6 it would seem to make the reflux flare up. So her geneticist decided to keep her off it until her reflux was under control. We started the b6 about 4 months ago and so far everything has been going smoothly. We struggle giving her the b6 because it must taste nasty so we have to come up with different ways to give it to her.
Anniston has been allowed 50 mg of methionine a day. She was recently increased to 75 mg. Baby food has been super easy since you know how much methionine is in each tub. Now that she’s starting to eat more solids we are learning how to measure all her foods with a scale. We are learning more and more about what foods she can have and how to prepare them. Since she has never been a fan of the bottle it has become harder to feed her the bottle since she discovered foods taste better. We started trying flavor enhancers like strawberry Nesquik and chocolate syrup.
We just celebrated Anniston’s first birthday. We are so thankful for newborn screening because our baby girl is able to have a beautiful healthy life. We continue to learn more and more about HCU daily from her amazing genetic doctor and dietitians plus this very supportive community.
Today, seven years later, Anniston is thriving!
Starting school was always one of our biggest fears. We worried about food, safety, and whether others would understand her needs. Now, Anniston is in second grade, and we have a routine in place that gives us confidence and peace of mind. Her school has been absolutely wonderful and provides low-protein meals from Cambrooke three times a week. We also have a plan where her teacher sends us pictures before and after lunch, and we are notified about any extra snacks ahead of time. What once felt terrifying has become manageable, and we are so grateful for the support from her school.
Anniston is doing incredibly well academically. She is constantly on the honor roll and has shown no signs ofÂ
concern related to her condition. In fact, her doctor has recently increased her allowed protein intake to 14 grams per day, which feels like a huge milestone.
She is a bright, smart, and beautiful little girl with an incredible personality. Her classmates are kind and accept her condition, and we have even had other parents tell us that their children now read food labels to make sure snacks they bring to school are safe for Anniston to eat. Seeing that level of empathy and awareness at such a young age is truly heartwarming.
Outside of school, Anniston is becoming quite an artist. She has an amazing talent for drawing and can recreate almost anything just by looking at it. Watching her creativity and confidence grow has been one of the greatest joys of our lives.
While Anniston is doing so well medically and developmentally, there are still ongoing challenges. Securing coverage for her medical formula and medications continues to be a constant battle. Commercial insurance will not cover them, and we have had to fight to get her enrolled in a state-funded program. Even then, obstacles remain. Some durable medical equipment providers refuse to accept the coverage because reimbursement rates are too low, creating unnecessary stress for families like ours.
Despite these challenges, we remain deeply grateful — grateful for newborn screening, for early diagnosis, for dedicated doctors and dietitians, and for the HCU community that continues to support us. Because Anniston was diagnosed early, she has been able to live a full, healthy, and joyful life.
HCU is part of Anniston’s story, but it does not define her. She is strong, compassionate, talented, and thriving. We are so incredibly proud of how far she has come and excited for everything her future holds.Â
