Emma’s Story: Living Life with Galloway-Mowat Syndrome (GAMOS)

What would you do if you were told that your child had a rare disease? How about if your child had an ultra-rare disease, which affects fewer than 20 in every 1 million people? Jodi Burckner and her family faced this question head-on when daughter Emma was diagnosed with Galloway-Mowat syndrome (GAMOS) after nearly a year-long diagnostic odyssey. Altogether, there have only been between 70-120 cases of GAMOS reported across the globe.

The Burckner family, as a result, has since faced an unknown landscape. There is still much unknown about GAMOS, and little (if any) research being performed. To best help those affected, more understanding and research is urgently needed.

That’s why Jodi is doing all that she can to raise GAMOS awareness, combat misconceptions about parenting a medically complex child, and work towards more treatment options and better understanding.

Emma, who has Galloway-Mowat syndrome, sits in her chair. She is wearing green glasses and has her hands stretched out over a colorful toy.
Photo courtesy of Jodi Burckner

Recently, Jodi spoke with Patient Worthy about Emma’s diagnostic journey, what we know about GAMOS so far, how Emma is doing today, and the importance of combating isolation through connection.

The Diagnostic Journey

After Jodi Burckner and her husband, an active-duty member in the United States Air Force, moved to Virginia from Colorado, they welcomed their daughter Emma into their lives. She completed the family; older sister Madelyn, three years old at the time, couldn’t contain her excitement. Everything seemed perfect. 

At the same time, Jodi had a nagging feeling—call it mother’s intuition—that Emma might be facing a health issue. In the months following Emma’s birth, Jodi noticed that her daughter could not look at anything straight-on without her eyes fluttering. Emma’s eyes also seemed to move back and forth rapidly. 

By the time Emma was four months old, her pediatrician also noticed Emma’s nystagmus. He ordered an MRI and referred the Burckner family to a neurologist. Jodi shares:

“The MRI showed that Emma had optic nerve hypoplasia, corpus callosum hypogenesis, hypomyelination, and bilateral semicircular canal hypoplasia. This means that she showed underdevelopment in her white matter and had underdeveloped semicircular canals in her ears, which affect balance and coordination.”

The Burckner family was then referred to a child development doctor, a white matter disorder clinic in Washington, DC, and a team of therapists: speech, occupational, and physical. 

By this time, Emma was seven months old. Jodi shares:

“She wasn’t tracking objects, reaching out to grab toys, rolling over, lifting her head off the ground, or even making any sounds. By this point, I knew there was something going on.”

During her time at the white matter clinic, Emma saw a geneticist. This geneticist ran multiple genetic tests with a goal of determining Emma’s diagnosis. Then, when Emma was eleven months old, the family finally received answers: Emma has Galloway-Mowat syndrome (GAMOS). 

What is Galloway-Mowat Syndrome (GAMOS)? 

The National Organization for Rare Disorders (NORD) describes Galloway-Mowat syndrome as:

an extremely rare genetic disorder that is characterized by a variety of physical and developmental abnormalities, particularly neurological abnormalities and early onset progressive kidney diseases.

WDR73 gene mutations cause GAMOS in a certain subset of cases. It is inherited in an autosomal recessive pattern, meaning people must inherit two defective genes to develop this condition. While WDR73 variants have been implicated in GAMOS, doctors also believe that there may be other disease-causing genes that have not yet been identified. 

Galloway-Mowat Syndrome Symptoms

Because GAMOS is so rare, this disorder is still poorly understood. Researchers believe that symptoms typically manifest within the first few months of life. Symptoms may include:

  • Hiatal hernia
  • Gastroesophageal reflux 
  • Microcephaly (abnormally small head size) 
  • A high, narrow forehead 
  • Optic atrophy (degeneration of the optic nerve)
  • Unusually small jaw bones 
  • Frequent and repetitive vomiting, some of which may be projectile vomiting
  • Failure to thrive
  • Laryngospasms (sudden laryngeal contractions)
  • Aspiration pneumonia
  • Hypotonia (low muscle tone) 
  • Club feet
  • Joint contractures
  • Intellectual and developmental delays
  • Anemia (low red blood cell count)
  • Abdominal ascites (accumulation of fluid in the abdomen) 
  • Kidney abnormalities
  • Nephrotic syndrome
  • Seizures

It is important to recognize that not all people with Galloway-Mowat syndrome will have all of the symptoms listed above. Some children have kidney issues in utero or kidney failure at birth (Emma does not). Other children have organ failure or seizures (Emma, also, does not). There is a huge variability between those affected. Every person, and their experience with this condition, is unique. In Emma’s case, Jodi explains that Emma has severe developmental delays, extreme nearsightedness, nystagmus, nerve pain, and kidneys that act up without enough water. 

Facing the Diagnosis

For Jodi, trying to understand what Emma might face was difficult. She explains:

All of her doctors admitted that they knew nothing about GAMOS and it was extremely rare. Her life expectancy was anywhere from two to twenty-eight years based on the slim research that was available. Of course, I thought the worst and that our child would die by age two. We spent months doing our own research and all we found was extremely depressing and negative.

However, the family has since learned that the available information is not always correct. Jodi further shares:

To us, Galloway-Mowat syndrome isn’t a death sentence, even if the internet says so. The most challenging part has been navigating this alone. Doctors have never really treated GAMOS, so it’s a lot of trial and error. But even with all of that, it’s not a death sentence.

Emma has Galloway-Mowat syndrome. She is laying on the floor in a purple shirt and smiling at the camera.
Photo courtesy of Jodi Burckner

Jodi wanted to not just raise GAMOS awareness but combat the isolation that comes with a rare disease diagnosis. So, she and her husband launched a website to share Emma’s journey, discuss therapies, and form a community. The website has been live for over a year now and has helped to connect the families of 15 other children with GAMOS across the world. 

Emma Today

Emma is now two and a half years old, and her family describes her as the happiest, sweetest little girl ever. She loves spending time with her sister and her grandma, who moved into the house. Each week, Emma has a busy weekly routine! In addition to working with Jodi at home throughout the day, Emma has physical therapy three times a week, and occupational therapy, acupuncture, speech therapy, and chiropractic care once per week each. Jodi shares:

“Emma is doing well now! She just got robotic legs for her gait trainer and is starting to take steps on her own while being supported for physical therapy. Even though she doesn’t sit or stand unassisted, she has started to commando crawl.”

Emma, who has Galloway-Mowat syndrome, sitting in her chair. She is wearing pink glasses and a pink shirt.
Photo courtesy of Jodi Burckner

By sharing Emma’s story, Jodi hopes to raise awareness—in both a personal and medical sense. Her goal is to find a pharmaceutical company who might be interested in doing research and working towards a treatment or cure. Says Jodi:

“I hope and pray that the research could find some sort of gene therapy to help Emma and other kids with rare diseases. Galloway-Mowat syndrome normally causes kids to need a kidney transplant, so something that could slow or stop the progression of kidney failure would also be awesome!”

But on a more personal level, Jodi wants to champion inclusivity and fight isolation. She hopes that other families will hear their story and feel less alone. And most of all, she wants to show others how amazing Emma is, saying:

“My biggest dream is that we create a more inclusive world. I don’t want people to look at Emma, or other medically complex children, as being different. They have feelings and emotions just like everyone else, and I want to make sure they are included.”

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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