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.
5 Year Update!
Rileigh was born a little over five years ago, on June 18th, 2018. Two days after she was born, and before packing up to take our newborn home, our hospital did a routine newborn screen that tests for 30 different conditions. After being home for a couple of days, I received a call from our hospital stating that Rileigh’s amino acid test came back abnormal and needed to be retested. Instant worry set in. We headed to the hospital the next day to have her labs redone. A few days later, I got a call from our pediatrician telling me that they had set up an appointment for Rileigh at Nationwide Children’s Hospital’s genetics department. At that moment, I went straight to the internet, something I wish I had never done, and my heart sank. In an effort to prepare myself and my partner as to what we were up against, I read about all the worst-case scenarios possible, but it just sent me into a state of panic, and fear of the unknown.
Rileigh was 2 weeks old during her first visit with the geneticist. I was in tears the whole visit, but he assured me that she was going to be fine as long as I followed his strict directions and adhered to the treatment that Rileigh would need. It all sounded so overwhelming. We went home and started treatment right away. It consisted of Hominex formula mixed with regular infant formula, Cystadane powder, folic acid and B6. Routine lab work and clinic visits were our norm during that first year of her life. Her lab work looked good each time which was always a relief. As a parent trying to navigate through caring for a child with a rare disorder, you’re always wondering if you’re doing everything right, and getting good labs always helped to reassure me.
Rileigh’s first year was such a blur. I was always praying that she would grow and develop normally. Once she started solids, we went into another overwhelming phase, which was navigating the low-protein diet and making sure that we stayed within the 9 grams of protein a day that Rileigh was allotted. Baby food seemed so much easier than regular food, and we figured it out. We used a whiteboard for tracking the formula and food that Rileigh consumed each day, which we still use today (she’s still on 9 grams of protein a day, too). She even likes helping to add up her protein amount and moving her magnet up until she reaches her goal. Rileigh also loves helping to prep her meals, like with her favorite vegetable soup! We keep her very involved with her diet and teach her the importance of her diet and medication for her health.
We now do yearly appointments with her geneticist, and we've recently had her 5th year check up! Rileigh is a very smart, energetic, happy child. She’s been in tumbling since age 2 and has been involved in swimming lessons, soccer, t-ball and dance, too! (Her favorites so far are tumbling and dance.) We never want her to be limited by her disorder, and we tell her that she can do anything she puts her mind to.
Rileigh will be starting kindergarten this fall and we are a little nervous, but we’ve spoken with her school about her dietary needs and they’ve assured us that they would follow her strict requirements. We will pack her lunch and snacks, and she will drink her daily formula with the school nurse. This is just our next chapter of our little HCU child’s life! She’s doing so well, and I have to give so much thanks to her doctors, nurses and medical team! They know what they’re doing. I also have to give my husband and I a pat on our backs as well. We were so scared and overwhelmed in the beginning, but we’ve managed very well and have become a great team. I know we’ll inevitably face some challenges in the future, but right now we’re all three feeling like rock stars!
