Augustine

“Augustine was diagnosed with a rare genetic condition when he was born. He had been receiving care all of his life with many different specialists. We felt like we had a handle on things until he turned 7 months and had difficulty eating. He had several other symptoms that didn't align with his previous diagnosis so they did further genetic testing and found Mitchell Syndrome. Augustine had to be hospitalized four different times, has had every test imaginable, and many many blood draws. He has hypotonia and receives physical and occupational therapy to try to help him meet his milestones. We noticed that most of his life he was very sleepy and are hoping that this new diagnosis will help answer some of the difficulties he has been experiencing. Augustine has been through more medically than most anyone will ever experience. Despite all of this he has an infectious personality and giggle. Even on a hard day he will offer a smile and a dreamy look into your eyes. He has very chunky thighs and long eye lashes. Nurses would stop dead in their tracks when entering the hospital room because he is just so cute. As we are able to meet more of his needs we have seen his personality grow and take in all of his belly laughs. He is affectionately loved by his two older sisters. He loves their attention and watching them run around. We live part time in California and Puerto Rico and he has loved being outdoors and near water. My husband and I are trying our best to be hopeful for his future because of the foundation and the research that can be done to find a treatment.”

-Written by Augustine’s mother, Kristen (March 2023)

Yana

“My name is Yana. I am 21 years old, and I live in Kalmykia, Russia. I live with my parents and older brother. My dad provides for us, and my mom had to quit her job to be with me full-time. My brother returned from the army last week. I am a 4th year student at Kalmyk State University, in the School of Journalism. Now I am studying remotely, because in the 3rd year I became ill, and my condition deteriorated sharply. In just one month I could no longer move independently, although for all 20 years I lived a normal life. I walked, spent time with friends, and studied. I never imagined this could happen to me. It feels like life is divided into before and after. As a child, I went in for dancing, went to a vocal circle, studied piano at a music school. At school, I loved literature and the Russian language. I loved to read poetry. I really liked the poems of Pushkin, Lermontov, Yesenin, and Mayakovsky. We traveled a lot as a family, and went to many countries. After graduating from university, I dreamed of going to Korea to continue my education. I really like their culture, films. But that was all before. Now, there is only hospitals, injections, endless medicines, doctors who can't diagnose, a wheelchair. During this terrible year, I no longer have any tears or strength to fight on. But my parents do. They never lose hope, and probably until they get me back on my feet, they will not slow down. Thanks to my parents. Thanks to the Foundation for your understanding and work. I really want to get well, so that I can walk along the street again someday. These are such simple things, but are not yet possible. This is my dream, for today.”

-Written by Yana (October 2022)

Leon

“At age 4, Leon experienced sudden hearing loss with no explanation. He received hearing aids which helped, but at age 6 he began to have vision problems with corneal scarring. Then, at age 8, Leon developed very dry skin (diagnosed as neurodermatitis) and also had balance problems. Following a bad fall when he was 9 years old, we took him to the Emergency Room where doctors saw inflammation on his spinal cord. He was treated with cortisone shots and immunoglobulin, and his symptoms improved. He was even able to walk again. However, he was hospitalized several more times after this. Doctors suspected MS (multiple sclerosis) or NMO (neuromyelitis optica), but could not give him an exact diagnosis. They tried many kinds of treatments, including rituximab, but eventually Leon required a wheelchair. He started having breathing problems and had a seizure, so we took him to the hospital and he was put in the Intensive Care Unit. After he got home, Leon was relatively stable, even though communication was no longer possible and he could no longer walk. His skin problems continued. When he was 16 years old, doctors performed a genetic test and he was finally diagnosed with ACOX1 gain-of-function, or Mitchell Syndrome. On October 27th, 2020 Leon fell asleep forever with organ failure.

During his life, Leon loved wrestling and chocolate pudding. He also loved his little brother and grandmother, and he loved their hugs. Before he got sick, Leon was always on the move. Even after he got sick, we took him everywhere we went—even in the pool! And he had a sense of humor, too, and made fun of the nurses when he was in the hospital.”

-Written by Melanie, Leon’s Mother (August 2022)

Trey

“Trey was a happy, quirky 11-year-old boy in January of 2018. He has an autism spectrum disorder and was just starting at a new school for kids with diverse learning needs. Everyone was very excited for the future. Shortly after, we started to notice issues consistent with hearing loss. He saw multiple doctors for the next 7 months, but we got no answers. His autism was always a fallback for why he was having trouble, which was extremely frustrating. As his parents, we knew something was wrong. By July, he couldn’t hear at all, and could only communicate by writing notes. He also developed ataxia and began to fall. We were waiting for neurology appointments when he started to complain of severe eye pain, and we took him to the ER at our state’s pediatric hospital. His MRI revealed transverse myelitis and lesions in his brain. He received amazing care and was initially thought to have NMO (neuromyelitis optica). He was treated for this but continued to decline. Due to his neuropathy, he was using a wheelchair and walker, and was also having bladder and swallowing issues. Eventually, he had his whole genome tested but this didn’t provide any answers at the time. Amazingly, Trey began to improve in October of that year, and has been doing well since. In May of 2022 his genome was re-analyzed and he was confirmed to have ACOX1 gain-of-function, or Mitchell Syndrome.

Trey is an old soul. He loves 80s and 90s movies. He loves to talk about Titanic, Ghostbusters, and Back to the Future with anyone who will listen. He likes to play basketball, pull pranks, and camp with his family. He still struggles to hear, but he gets some gain from a cochlear implant, hearing aids, and reading lips. He still has some ataxia. He is currently in 10th grade at that same small school where he had started when he got sick. We are so hopeful for his future.”

-Written by Meredith, Trey’s Mother (August 2022)

Thamires

“I received confirmation of Mitchell Syndrome recently. It took 13 years of waiting for an answer. My symptoms started when I was fifteen years old. I suffered a lot of falls, felt a lot of weakness, and started using a cane. Over the years I started to have hearing loss and today I have bilateral cochlear implants. The surgeries were performed in 2021. I also have visual field loss in the left eye, a neurogenic bladder, and use crutches for short walks and a wheelchair for long walks.

Over the past 13 years I received diagnoses of Charcot-Marie-Tooth Disease and RTD (riboflavin transporter deficiency), but the doctors could not reconcile the symptoms with the syndromes. Something was always different—until it finally closed in Mitchell Syndrome. I did a genetic panel and an alteration was found in the ACOX1 gene.

I am a happy person, who captivates everyone and who never lets down because of the diagnosis. I like to fight for the cause of people with disabilities. I love sports and arts and I like to play musical instruments.”

-Written by Thamires (June 2022)

Cole

“In most ways Cole is your typical, crazy 5-year-old. He loves to get into everything, most of which he shouldn’t! He enjoys playing outside, swimming, riding his bike, and playgrounds—probably because he can do all the things he isn’t allowed to do in the house.

Around 3 years old we started to notice things were progressing a little differently than with his older sister. We didn’t think much of it at the time as all kids develop at their own pace. It wasn’t until he started his first year of Pre-K that his teacher asked if we had ever has his hearing checked. We took Cole to see an Audiologist and we learned he was suffering from bi-lateral hearing loss. This was right before the world basically shut down due to Covid. In the middle of everything going on in the world we were taking him from one appointment to the next to try and figure out what was happening. As his hearing began to get progressively worse we were able to get him hearing aids. They did not do anything to help his hearing and he then became a candidate for Cochlear implants.

We were extremely hopeful that this would be the resolution we were looking for, but it turned out life had other plans. After months of testing and re-testing there was still no improvement with the implants. His surgeon was convinced something else was wrong and wanted Cole to see a geneticist. On November 8, 2021 we received the news Cole had Mitchell Syndrome. Like most people we had no idea what this meant or what the future would be for our little boy.

Cole has been amazing through all of this, probably stronger than both of his parents. He still does everything he loved to do before he lost his hearing. We are learning to communicate through ASL and he is picking it up extremely fast. He recently started at the Pennsylvania School for the Deaf and seems to be loving it.

We know we have a long way to go, but we are very lucky to have an amazing circle of family and friends that now includes the Mitchell Syndrome family.”

-Written by Cole’s parents, Matt and Nacole (March 2022)

April, Sarah, and Jacob

Sarah and Jacob are siblings who live in Tennessee with their grandparents. After many years of unexplained symptoms they were finally diagnosed with Mitchell Syndrome with the help of genetic testing through the Undiagnosed Diseases Network at Vanderbilt. Their mother, April, died in 2014. Though she was never diagnosed, it is now presumed that she had Mitchell Syndrome since many of her symptoms were similar to what is seen in patients with Mitchell Syndrome.

Sarah is 21 years old and has an additional diagnosis that caused developmental delay at birth. She initially had hearing loss at age 8 and then had difficulty walking and seizures at age 11. She is now at the developmental age of a 7 year old, is not vocal, but gestures for her needs. It is difficult for her to use her hands. She likes to sit in front of her tv and watch Netflix and can use her mouth to move the remote control. She loves cartoons and snacks and having a routine makes her happy!

Jacob is 19 years old and his first symptom was hearing loss at age 12. He then began having more neurologic symptoms like difficulty walking a few years later. Jacob is paraplegic but is working with physical therapy to sit upright so he can use a wheelchair. He completed high school and earned his diploma and enjoys pizza and watching YouTube and playing games on his phone.

-Written based on information provided by Allen, April’s father (February 2022)

-Edit: Sarah passed from this earth on August 16, 2022

Henry

This is Henry, our bouncy bubbly hectic 6 year old from Portsmouth in the UK.

Henry has always been an active boy. He loves the outside, watching films, and playing his Xbox.

Our son started to lose his hearing at the age 3, and is now profoundly deaf. Doctors performed tests, but couldn’t find anything medically wrong. They just put it down to being “one of those unfortunate things.”

On Boxing Day in 2020, Henry starting walking “funny.” Our GP referred us to the hospital, where had had an MRI showing an abnormality to his cerebellum. At the same time, Henry became very lethargic. He wasn’t eating or drinking, was sleeping all the time and became bed-bound.

Henry ended up being admitted to Southampton Children’s Hospital Neurological Ward where we stayed for just over a month. He under went every test you could imagine, and in February 2021 we received the devastating news that Henry had Mitchell Syndrome.

Henry doesn’t know about his condition. How can you tell a 6 year old he has a life-limiting condition, with no treatment! How could I answer his questions if doctors can’t even answer mine? Henry just knows he’s growing poorly.

As of September 2021, Henry is doing amazing! He has his cochlear implant operation soon. Fingers crossed that it’ll work, as this will massively change his life.

Our boy is a strong little boy with so much strength and determination! He’s a fighter. He’s our superhero.

-Written by Henry’s mother, Laura (September 2021)

-Update: Henry passed from this earth on June 6, 2022. He was surrounded by family and is remembered by friends.

Andrea

My name is Andrea. I’m nineteen years old and I’m Salvadoran! Born in Los Angeles, California, I’ve had a diverse childhood exposed to many cultures and cool places! I’m a student at Berkeley and plan to become a journalist in the future. My interests include various anime/manga (my favorite anime is One Piece!), reading, playing games, writing, and talking with friends and family. I can be described as sarcastic, but I think I’m pretty sanguine and open to anything! People have described me as courageous because I’m not afraid to speak on how I feel about certain issues. I think I’m resilient as well, given as how I’m still here despite life throwing me for so many loops. I’m passionate about equal rights and trying to understand others, and my favorite topics include ancient history and the ocean! I love my family very much and hope to make them proud in the future with achievements I know I’m bound to attain.

With that being said, the nitty gritty of the situation is that I first got sick when I was thirteen. I began having trouble walking and my mom got worried and rushed me to the hospital. At first, they rejected my admission, thinking it was something orthopedic, but my mom insisted and they admitted me. I was stuck in the hospital for around two months. During that time, I was diagnosed and re-diagnosed with a variety of illnesses, but none of them fit my symptoms exactly. I became wheelchair bound and gained ataxia while losing my proprioception. It became very hard to do simple things, especially for a kid who had been relatively healthy throughout her entire life. Doctors eventually threw their hands in the air in frustration and gave me a diagnosis of “posterior spinal cord syndrome.”

In October of 2020, I was in the hospital for three months. I lost my ability to hear almost entirely, my vision became increasingly blurry to the point where I couldn’t distinguish faces, I couldn’t breathe properly because my diaphragm was just that weak, my limbs became even shakier. I couldn’t lift myself up at all, and needed an NG tube for my meals and medications.

I have recovered exponentially since then. Eventually my wonderful neurologist diagnosed me with Mitchell Syndrome, and since then I have connected with a support network.

Despite my new diagnosis, I won’t let it stop me. I have a loving family who supports me and amazing friends I know I can rely on when things get tough. In the near future, I hope to receive an experimental treatment to lessen the symptoms or perhaps even cure it. Although it admittedly isn’t the most exciting thing to be a patient, I’ll be happy if it helps people with the same diagnosis! I’m pretty tough and I know I can get through this! Thank you for reading through all of this, I appreciate it! Much love from Andrea and her family!

-Written by Andrea (September 2021)

Michael

Michael is your typical teenager who enjoys running, fishing, NASCAR, swimming, and being active with friends and family. He has a deep love for our country, Texas, and enjoys discussing current events. He is charismatic, intelligent, and hardworking.

At age 14, prior to the start of High School, Michael experienced the sudden onset of bilateral hearing loss after a severe allergic reaction. Four months later, Michael started to experience issues with both of his eyes (light sensitivity, watering, and burning), worsening hearing loss, and a numbness and weakness in his feet and legs along with Peripheral Neuropathy inching up his legs. After visits to the emergency room and seeing specialists with no resolve, in December 2020 Michael was admitted to the hospital where he underwent extensive testing, including Genetic testing. As the nerve degeneration stabilized, we were discharged from the hospital in time to celebrate Christmas at home. While we waited for genetic test results, Michael began physical therapy to address balance, coordination, and trouble walking.

February 1, 2021, we heard the devastating news Michael had Mitchell Syndrome, and his symptoms were the early onset of this progressive neurodegenerative disease. From the time of his diagnosis until March 2022, Michael had a period of improvement and stability.

In March 2022, Michael experienced another significant decline in hearing and eye issues after an episode of fatigue and nausea. Michael now has profound bilateral hearing loss and is in the process of getting his first Cochlear Implants.

We have an open and seemingly healthy level of communication about his illness and well-being. He has a strong support system, and vigor for life! Michael is now back to running and runs on his High School Cross Country team and swims on the Varsity swim team. He does this in conjunction with Physical Therapy specifically for ataxia and auditory therapy to minimize the impact of his hearing loss. His perseverance and positive attitude are inspiring!

-Written by Michael's Mom, Mary (Updated September 2022)

Jack

You may be wondering who Jack is, but are you sure you want to know? You could be overwhelmed by his cuteness and tenacity. You could very well fall in love with him. Don’t say I didn’t warn you…

Jack always seemed like he was in a hurry. He never took the time to learn how to crawl and he was so eager to speak that a sentence sounded like one word. He was bossy, nosy, and stubborn as a toddler. And now, at the cusp of eleven-hood, he still is. He is a whirlwind of chaos & laughter. Although his faults may be many, Jack has a few redeeming qualities, lol. He is so kind and caring. He also finds joy in every single day and the house always echoes with his laughter. He is brilliant and he is strong. He is the bravest person I have ever known. 

Besides living with a rare disease, Jack loved to play Mario games and he now enjoys watching his twin play. He watches Pixar films and enjoys the endless cartoons on Netflix. When the weather is warm he enjoys strolling through the neighborhood in his wheelchair while his mother bemoans the fact that she forget the return home is uphill, lol. He loves spending time with his family and seeing his congregation on Zoom. 

And that, my friends, is Jack….

-Written by Jack’s mother, Fay (August 2021)

Mitchell

During his 19 years on this earth, Mitchell left more of a mark than most people can expect to.

Mitchell Herndon was intelligent, charismatic, handsome, and funny. He loved music, baseball, Harry Potter, The Avengers, Hamilton, his family, and Jesus—not necessarily in that order. Mitchell aspired to a career in politics, and was well on his way, as the Student Body President of Affton High School.

When he was 12 years old Mitchell first started experiencing mobility problems, hearing loss, and difficult seeing. Doctors weren’t sure what was wrong but treated his condition the best they could. He became a beloved patient of the doctors, therapists, and nurses at Children’s and Ranken Jordan Hospitals in St. Louis. With his winsome personality and willingness to share his experiences with his illness, he endeared himself to the researchers at the Undiagnosed Disease Network at Baylor in Houston. He was the first person identified with the genetic disorder now labeled “Mitchell Syndrome.”

Mitchell didn’t let his diagnosis or disease slow him down, and earned a full-tuition scholarship to St. Louis University, where he planned to study politics and law. His college career was cut short by his passing in October of 2019.

Following his death, Mitchell’s family continues to honor his legacy by raising awareness of Mitchell Syndrome and connecting with other families given this rare diagnosis. He will never be forgotten and continues to serve as an inspiration to friends, family, and strangers everywhere.