MEET LIZ & ELLIOTT

Inspiring change

“I can’t imagine life without Elliott,” Liz says

At nine-years old, Elliott doesn’t give half-effort to anything he does, especially sports. Right now his passions are basketball and football. A fourth-grade star student, Elliott is also a talker; he is forever dropping witty lines.   

But seven years ago, as Liz and her husband waited for answers in the hospital as to why their 2-year-old son was having seizures, the idea of their listless, speechless boy playing sports was far from their minds.  

“I remember looking at him and thinking, will he make it out of here?”  

Two weeks earlier, the family had been enjoying their annual trip to the South Carolina coast, but when they got home, Elliott wasn’t himself. At the ER, it was assumed he had a virus and Liz drove Elliott back to the house. Then Liz promptly turned the car around and drove back to the ER.  

Seizures, a stroke, and blood clots in his brain led the medical team to induce a coma to give Elliott’s brain a chance to rest. But what was causing these symptoms? 

“It felt like we were racing against the clock trying to get a diagnosis.” 

After 10 days and endless rounds of testing came a diagnosis. “We think he has something called homocystinuria.” The doctor explained that the condition was genetic and that it was treatable. 

“I picked up the phone, got on Facebook, found HCU Network America (HCUNA) and Danae Bartke, the nonprofit’s executive director. I sent her a message that said, “Help. My little boy was just diagnosed with homocystinuria. I don’t know what life is going to look like or how we’re going to do this and I need your help.” 

As rare families so often experience, finally having a diagnosis is a relief. Finding support is life-changing. 

What is classical homocystinuria (HCU)? 

Classical homocystinuria (HCU) is a genetic metabolic condition. People with classical HCU lack sufficient enzyme activity to break down methionine, which is an essential amino acid that makes up protein in the food we eat. Treating classical homocystinuria today involves restricting protein in the diet, and supplementing with a medical formula, and oftentimes, vitamins B6, B12, and folic acid. 

When Elliott was diagnosed, he was allowed 2 grams of protein a day. At nine years old, his protein consumption per day is less than 13 grams. For context, there are 4.2 grams of protein in a cup of broccoli. A single ounce of chicken has 10 grams. Elliott’s diet is supplemented with a methionine-free medical formula.

The limitations of the diet are real. “We have a whiteboard in our kitchen and we write everything down, we count every ounce, every gram he eats so we’re sure he doesn’t go over the allotted amount.” 

Untreated classical HCU leads to toxic levels of homocysteine that can result in life-threatening thrombotic events such as stroke, blood clots, ophthalmologic and skeletal complications, as well as developmental delay. Individuals may have dislocation of the lenses of the eyes as the first symptom.  

“When Elliott got his diagnosis, and we learned that homocystinuria is a genetic disorder, I was confused,” recounts Liz. “If this is genetic and we don’t have a family history, where is it coming from? I’ve since learned it’s an autosomal recessive disorder, so my husband and I are carriers. Our older son does not have the disorder.” Elliott was tested for homocystinuria and other genetic metabolic conditions during newborn screening and the results were negative. So what happened?  

Challenges in Newborn Screening for Classical HCU

While homocystinuria is on the newborn screening panel in all 50 states, it’s estimated to be missed in 50% of babies with the condition. Families and individuals face the agony of complications developing from homocystinuria without the benefit of having a diagnosis at birth and starting treatment. In addition, the presumption that the screening is reliable means that healthcare professionals rule out homocystinuria when trying to diagnose symptoms of the condition later on.  

In fact, as Elliott lay struggling in the hospital before his diagnosis, the doctors checked his newborn screening panel, saw that it was negative for HCU, and moved on. Another week went by before they tested his methionine and homocysteine levels and identified the condition.  

“The first step I took to get involved in newborn screening advocacy was simply to share Elliott’s story,” Liz says humbly as she recalls speaking to the Advisory committee on Heritable Disorders in Newborn and Children in Bethesda, Maryland in 2019. The council made decisions about newborn screening, recommendations to the Secretary of Health and Human Services (HHS) on what conditions should be added to the panel, and what might improve the system.  

Incredibly, after Liz and others from HCUNA shared their testimony, the CDC began work to develop an improved methodology for the newborn screen for homocystinuria. In 2024 she and Danae had the opportunity to meet the team behind the developments. Liz explained, “The new method tests for homocysteine instead of methionine and would be a much more accurate biomarker to use. Theoretically it would identify all babies with all types of homocystinuria at birth.” 

The process of making changes to newborn screening at the federal or state level is notoriously difficult. The hope is that one day in the near future, all 50 states will adopt this new methodology. However, newborn screening advocates from HCUNA have been meeting with state labs to talk about the challenges and inconsistencies of the methionine-based protocol. As a first step, if labs lower their methionine cutoff, more babies will have a chance at receiving the life-saving diagnosis at birth.  

Building Connections and Community 

“Connecting with HCU Network America and other families that live with homocystinuria has been the biggest blessing out of all of this,” says Liz. “HCUNA has helped me through this journey. If there’s any moment where I’m consumed with anxiety or guilt, I can pick up the phone and text another person and just say, ‘this is hard.’ And I’ll know the person on the other end of the phone understands me completely.” 

HCUNA holds a family conference every two years that is important to Liz’s entire family, including Elliott’s older brother who can connect with other siblings of kids living with HCU. At the conference, geneticists, nutritionists, and other metabolic experts come together with families affected by HCU for updates in research, and perhaps most of all, being together with other families who understand.  

Hopes for the future 

“If we can bring some sort of good in this world from what’s happened to us, I think that’s our charge as human beings. Being able to share Elliott’s story, lend my voice, push the HCU community forward, I feel like that’s what I need to do.” 

Improvements in newborn screening are critical so that every baby gets a chance to get the diagnosis at the start of life and start treatment as early as possible. For Elliot’s future, Liz shares, “the diet, the formula, the medications – there’s so much that comes with that, and I hope ultimately for a better therapy so that we can all live more normal lives.” 

For more information about HCU Network America and newborn screening reform for homocystinuria, visit https://hcunetworkamerica.org. 

To hear Liz share her newborn screening story to CDC, visit https://www.youtube.com/watch?v=qoh-Co13j2o&t=3s 

Listen to a HC&U podcast with Liz here: 


Liz & Danae