Our daughter Rileigh was diagnosed with Homocystinuria caused by Cystathionine Beta-Synthase Deficiency. Our story began in Ohio at home one and a half weeks after Rileigh was born. I got a phone call from her pediatrician’s office. They told me that her amino acid test came back abnormal and that they needed to retest it. This is a part of the newborn screening program in Ohio and West Virginia. My advice to any parent is do not look things up on the Internet before knowing the final result! I was a basket case! I went to our local hospital and had her blood drawn again. A few days later my pediatrician’s office called and said her amino acid was still abnormal, so they set up an appointment for us to go to Nationwide Children’s Hospital in Columbus to see a
Geneticist. We were told that “we were in good hands and that I know you are scared but everything is going to be okay. Fortunately, this is a treatable condition and as long as you do everything we ask of you, she will be okay and not suffer from any of the symptoms that this condition can cause.” Okay, “so breathe, stop crying... he said she was going to be okay....”. Learning that your child has a condition can be the scariest thing you’ll go through. Learning that she will be okay as long as we do everything right can also be scary. “What if I fail? What if I do everything right but it doesn’t work?” Your mind can be a horrible place to live in sometimes....
We put our worry to the side and did what was necessary. She was B6 non-responsive, so she gets a daily dose of B6 and Folic Acid. She also takes betaine with her daily formula, and is limited in the amount of protein she gets daily. We are 19 months out from diagnosis. She is thriving and doing very well! We couldn’t be happier, and yes I’ve learned to trust the process.
The process isn’t easy though. Her diet has been easily controlled with methionine free formula and baby foods. We use the nutrition labels to watch her protein intake and follow the nutritionist’s advice step-by-step. I’ve found gluten free snacks, and she can have most fruits and several veggies. She loves bananas and green beans the most! Right now she’s allotted 9 grams of protein a day from foods. I’ve been transitioning her to more solid foods; learning her likes and dislikes. Meal prepping for her caregivers while I’m at work has been the most challenging, but they have been great at keeping her on the diet. I have written out what she is allowed to have daily to make things easy on them. I know I will be stepping into another challenge once she is in school, but for now I have found some wonderful support groups that share terrific recipes and advice until that day comes. Our family has embraced our new normal and we adore our sweet, beautiful baby girl Rileigh.