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Meet Emery

Emery Harper

Updated May 2025

My name is Emery. I am one year old and live in Southern California. I am loved by my parents and big brother, Weston. I was diagnosed with FBXL4 when I was 5 days old. Due to complications with this disease, I spent my first 10 weeks fighting for my life in the Children’s Hospital of Orange County NICU. Now, a large team of specialists, most notably a renown Metabolics Team, continue that fight in outpatient, granting me significant quality of life outside the hospital.

Now that I am home with my family, I enjoy being held, batting at toys, and rolling (with help) from side to side. I am proud of myself when I bring my hands to my mouth. I am a social baby and will let you know if I like something or not. When I am happy I will coo and babble. When I am frustrated (like when I am done with tummy time), I will grumble and groan. Just like other babies, I will cry when I am hungry or overtired.

Learn more about the FBXL4 Diagnosis Here

"This disease is progressive. Without a cure, there will come a day when we must accept that this disease has compromised so much of Emery's body that the only path forward is to ensure she is happy. But also, one day there will be an FBXL4 child whose life, due to recent advancements in medicine, takes a new trajectory. Like every parent whose child has a rare disease, we hope that our daughter will be that child and we will do everything humanly possible to give her the best chance of that happening." - Emery's parents

My Medical Conditions

When you meet me, you will notice that I breathe quickly. This was more noticeable my first 6 months of life, but still occurs today. My disease causes an accumulation of acid in my body and the rapid breathing is my body’s way of compensating. When I am more sick I breathe even faster. This can be a clue for if I am entering a metabolic episode, but not always. The only true way to confirm if I am in trouble is a blood test at the hospital. Before I was four months old, I had had 9 blood transfusions to offset the amount of blood previously drawn for testing.

You’ll quickly notice that my muscles are not very strong. Because I do not have a lot of energy, it is hard for me to build muscle. Due to injuries in my brain caused by metabolic episodes during my time in the NICU and my overall low reserve of energy for brain development, I have low muscle tone and may appear floppy if you hold me. It takes my brain longer to send signals to the rest of my body and so it takes extra practice to coordinate my movements. I have a Physical Therapist who teaches my parents exercises to help me build head control and core strength at large. I also have an Occupational Therapist who teaches my parents exercises to teach me to grab toys, bring my hands to my mouth, and suck on a pacifier. Typical monthly baby milestones do not really apply to me. I'm more like a newborn than a one year old, but I'm learning and moving at my own pace.

I have some vision but not very much. As such, I get therapy for my Cortical Vision Impairment (CVI) which involves high contrast objects and a lightbox. I can hear pretty well and we hope that stays true. I can hear when my mom is close!

Because it is difficult for me to suck (and also swallow), I do not drink milk. A special combination of breastmilk and formula is “fed” to me via a feeding tube called a G-tube. It is like a second belly button and gives me the superpower to eat while sleeping! (Other babies are jealous.) One day I hope to eat by mouth. I struggle to manage my saliva and therefore require frequent suctioning. At night, due to obstructive sleep apnea, I sleep with a C-PAP which helps keep my airways open and saliva more managed.

I take a LOT of medications through the day. Three times a day I get nebulizer treatments with a shaker vest and cough assist machine. In normal baby fashion, I sometimes fuss and flip my head to evade this mask. The rest of my medications go through my G-tube. Most are vitamins intended to make the mitochondria I do have operate more efficiently. I also have medications to treat my acid reflux. With my low muscle tone, just like it is difficult to swallow, it is difficult for me to keep the food down in my belly and so I spit up more than many babies. My parents are afraid that I may accidentally aspirate if I spit up and cannot swallow it back down. To help with this, I sleep inclined and on my side. I also have a pulse ox monitor since I do not practice “baby safe sleep”.

It is very difficult for me to fight infections. It takes a lot of energy to keep fighter white blood cells on-staff ready to fight infection, so I keep a small fleet and scale up only when I need them. A common cold could kill me so my parents are continuously evaluating which public outings the rewards outweigh the risks. My big brother traveled widely as a baby and was on 55 flights before he was 2.5 years old. Now, my parents' lives are turned upside-down as they navigate the delicate balance of my health risks vs my quality of life - I deserve to experience childhood, and so does my brother!

How I Spend My Day

I’m still a baby and so my life doesn’t look all that different from other babies. My parents spend hours prepping all my medications, formulas, and case managing my medical care, but I’m just a baby and don't know any different. I sleep, play, and fill my diaper. I don’t even have to put in the effort to eat. Food just magically fills me up!

Like other babies my age, I take 2 naps a day, but I am on the sleepier side. Currently, I can stay awake 2-2.5 hrs. at a time and then I’m ready for a nap. I’ll nap for 1.5-2 hrs. and often my parents wake me up. I’ll sleep close to 12 hrs. at night, though I will sometimes wake up. When I do wake up at night, sometimes I cry, particularly if I feel overfull or hungry. Other times, I just wake up and want to play! My parents will hear me wiggling and cooing in my crib.

My parents generally feed me while I sleep so that I can optimize my limited wake windows for exercise (the superpower of the G-tube). Because of my condition I can be more lethargic than other babies my age, but I do get short periods of stamina, usually the first hour I am awake. When I am sleepier, I like to be held. I do NOT like feeling like I was abandoned. I want to be with my family! I spend the most time with my mommy, but also feel comforted by my daddy. My brother brings a lot of cheerful innocence into my life. Admittedly, my three year old brother can make a LOT of commotion sometimes and overstimulate me (and my mom, and my dad…). Sometimes I need to leave the room and take a break. Gotta love siblings!

A lot of my people right now are doctors and therapists. They are all rooting for me. Almost all of my doctors are affiliated with the Children’s Hospital of Orange County and I visit them sometimes multiple times a week. My physical and occupational therapists come to my house multiple times per week. I also have a growing team of home nurses who help relieve my parents from the extensive number of hours it takes to prep my daily activities. Nurse Shaika has been with me a few hours a week for the last few months. She's been a godsend to my parents and I love her!

There are a LOT of other people who love me and who want to know more about me and my condition. My parents created this website so that my army of supporters could better understand and continue to cheer me on!

When I grow up, I want to...

Right now I'm most interested in trying to grab shiny Mardi Gras beads when they hang above me. I am also very fascinated by the feeling of rolling. Like other babies my age, my brain wants to roll, I just don’t have the muscle strength to make the turn. When my caregivers help me, I don't want to stop!

In 2024, I executed a successful fundraiser for the Metabolic Research Lab at CHOC. The original project is now largely complete. The team was able to find a supplement with promising results for FBXL4 treatment and will unveil these results at the United Mitochondrial Disease Foundation conference in June. Not only have I donated some of my cells for experimentation, but so have other children with my rare diagnosis. There has to be a reason why I was diagnosed with this condition, across the country from all of my parents’ friends and family, and placed in the hands of such an expert team. It is no coincidence that I was born in California near the Children’s Hospital which may have the most diagnoses of my disease of anywhere in the world.

Now, CHOC is growing additional FBXL4 research samples for other labs to use for drug development and testing.

Donate Here

These funds go directly to the Children's Hospital of Orange County.

My Support Team

There is an army of people fighting with me. My medical team is vast. I am followed by doctors from 10 specialties (and counting), an occupational therapist, a physical therapist, infant development early intervention, home nurses - I'm even still loved by some of my NICU nurses. Beyond my parents and brother, my family includes 4 grandparents, 8 aunts and uncles, 2 cousins, and 4 great-grandparents. And my team doesn't stop there. There are people cheering for me all across the United States and across the world, each following my story as it unravels. Welcome to my team!

Quotes from Emery's parents:

"This diagnosis flipped our worlds upside-down. Sometimes it still knocks the wind out of us when we're least expecting. No one thinks a situation like this will ever happen to them, but the reality is that health is precious. Life is a miracle and a lot of things have to go right to have the lives we're used to living. We're all one genetic mutation away from catastrophic health concerns and have no idea."

"We will never understand why such horrific diseases affect such innocent children. We'll likely never be ready to say: 'I wouldn't change it for the world', because, when your child is suffering from a progressive disease of this magnitude, you would do anything to take away some of her suffering and give her the basic opportunities she deserves. For reasons beyond our comprehension, she was given this life, maybe even chose this life. The best we can do is fight her medical conditions to the extent of current science, push the envelope of new science, and spoil her to her heart's delight. She was sent here for some purpose. We'll guide her to whatever that purpose is. Emery is our baby angel."

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