HCU Network America

Ellie from Pennsylvania

Ellie - Pennsylvania

2018, when Ellie was 6 months old, her family shared her HCU Hero story with us for the first time. You can read her original story here. Keep reading to find out how Ellie is doing today!

EDUCATION

As Ellie approaches her 6th birthday, we reflect on the incredible journey she’s had since those challenging days at the hospital five years ago. She’s grown into a strong and fearless girl, loving dance, gymnastics, and now aerial acrobatics with determination. She’s earned the nickname "cannon arm" in softball, showcasing her strength and resilience.

As we face occasional hurdles with her HCU levels or medications, we remain grateful for the advancements in newborn screens and genetics research.

EXPERIENCE

Navigating new challenges, Ellie sometimes faces days when food choices are tough. Whether it's dealing with not eating or frustration over dietary restrictions, these moments can be challenging. Going to friends' houses and managing her diet at school introduce additional hurdles. Despite these, Ellie's resilience continues to shine, and we're committed to supporting her through each step of this journey. Together, we'll find solutions and keep embracing the strength that defines her.

We are so proud of Ellie and who she’s becoming. She has taken the challenges of HCU and used it to make her more determined and a leader in most situations.

We asked Ellie’s mom, Jeannie, some questions to learn a little more about Ellie, her experience as a kindergartener, with the low protein diet and formula, as well as their family’s hopes for the future. Here’s what we found out!

What is Ellie's current protein allotment? What are some of her favorite foods, or foods that work well within her allotment?

Ellie is at 150 mg of methionine- or about 8.5 g of protein. This was a decrease from last year when she could have 9.5 g of protein. It doesn’t seem like much, but the 1 g difference changed most of our go-to meals for her. Currently she has been asking for avocado toast using gluten free bread. We like to pair it with some fruit, like apples or strawberries, to have a more complete meal. Her go-to lunch is macaroni and cheese using gluten-free pasta and a variety of cheeses. The trick is to add some vegan cream cheese to make it creamy! We like to add peas or green beans to give her more to eat at a lower-protein level. Gluten-free pretzels and vegan french onion dip are a must right now. We can give her a full serving of pretzels, dip, plus some cucumbers, and create a whole lunch for about 1 g of protein.

How does Ellie do with the formula? Any tips/ideas that you guys have found to work well in getting her formula in?

Ellie goes through phases with formula. Sometimes she will drink it quickly, and sometimes it feels like she is taking in drops at a time. Currently, she is drinking the formula just fine but needs constant reminders to “take a sip” - she is 6 and easily sidetracked! It takes her about 10 minutes to finish her allotment, 3 times per day. When Ellie is going through a phase of not wanting to drink it, it’s typically because she wants control over the situation. We will give her some control by letting her pick which cup she wants to use, or what she wants to do while drinking it. When it gets really tough, we will wait for her to want something and I will respond by telling her “I will get you what you want, as soon as your drink is finished.” Luckily these things have worked for us, and the phases don’t last too long.

What grade is Ellie in? What has Ellie's school experience been like?

Ellie is in kindergarten this year. We pack her lunch, and she takes her lunch time formula to the nurse every day. There have been a few times that her class has had snacks, but we typically know beforehand and will send a special snack with her. The few times that they have had a last-minute treat, her teacher has texted or called me with the information, and I let him know if she can have it. A few times she couldn’t have what they were providing, so they got an apple from the lunchroom for her to participate.

Ellie takes full ownership of her bottle time. At 11:07 she tells the teacher it’s time for her to go to the nurse, and she goes. Her teacher mentioned he doesn’t often even get to his reminder; she usually reminds him first. The biggest issue we are having is her eating at lunch. She tends to feel full from her bottle or is sidetracked and leaves half of her lunch uneaten. It makes it difficult to track and she is often hungry as soon as she gets home. These are all things we are making adjustments for currently to help the situation.

What are your/your family's hopes for potential future treatments or developments for HCU?

I would love an enzyme replacement therapy that requires minimal injections or disruptions to her life. I want her to travel and experience life without being chained to scales, formula, and medicine. Not only are the medicines expensive, but the diet is too. Gluten-free and fresh fruit/veggies are always putting us at a higher grocery budget. I worry that as she gets older, she won’t be able to pursue her dreams because she’ll make choices that won’t allow her to afford these things more readily, again being chained to something she doesn’t want. If there were a medication that would allow her to be more independent, that would be our hope.

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About Ellie

Ellie was diagnosed with HCU through newborn screening in April 2018. She had a repeat test done when she was a week old, and was then diagnosed at 13 days old. Her level was over 200, which led her genetic doctor to admit her into the NICU for 6 days. Since she was discharged, she has routine weekly blood draws and we are in close contact with her dietician and genetic team.

HCU has affected the way our family thinks about food. Although she's not eating solid food yet, I am constantly researching food substitutes and recipes that she can eat along with us. My family has dramatically cut meat from our diet to ease the transition when Ellie starts eating solid food. We have another relative who has been diagnosed with HCU, but never realized the effort it takes to stay within protein goals.

In Ellie's short HCU journey, she has had several accomplishments. The doctors/nutritionist have helped to bring her levels to a safe range by limiting protein intake and giving her betaine, both common in HCU treatment. Weekly blood draws help us monitor maintain her levels. At first, the blood draws were traumatic; it would take two people and several pokes to get a good sample. After about a month she began to get used to the blood draws and even smiles while a sample is taken. This is a huge success and led us to having a positive outlook on her treatment.

Since Ellie was born, she has not been a big eater. The nurses in the NICU even made comments about tube feeding her if she didn’t increase her intake. This makes reaching her daily calorie and fluid goals difficult. To overcome this obstacle, we give her less volume per feed and leave room for extra Holminex-1 at night to reach her fluid goals. Some days are better than others, but we make sure to keep close contact with her dietitians.

Ellie’s future is very bright. We are lucky that she was diagnosed at birth and could start treatment very early. Although her diet restrictions aren’t ideal, we have found several alternatives and live in a time where those food options are easily accessible. Advice I’d give to parents who are just starting their journey is to reach out to people who are affected by HCU. Connecting with people and reading others’ stories gives us a peace of mind. We do have days that we are heartbroken for Ellie, but remember she wouldn't be her without HCU and we wouldn't change her for anything.

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