Ryan loves the outdoors, and especially likes going outside for a stroll. Because she is deafblind, she enjoys feeling different textures, and will often giggle at extremely loud noises. Like many TFE3 kids she does NOT like physical therapy!  Ryan is also the star of a little known YouTube series called Rare Like Ryan, where her sister and brother support her in informing, educating and sharing Ryan’s life with with TFE3. It’s short sequences bring humor and play to what can be a heavy topic. 

Ryan entered this world spontaneously, 5 weeks earlier than expected. At the time, our family (we had two children already) had been living in Udon, Thailand.

At birth, Ryan was diagnosed with bilateral sensorineural hearing loss and an umbilical hernia. A few weeks later, she was diagnosed with macroglossia and an oversized liver. After piecing together a puzzle of symptoms, including Ryan’s spontaneous birth, her pediatrician made the diagnosis of Beckwith Wiedemann Syndrome (BWS) at three months. We were relieved to have a diagnosis. With a name to lead the way, this initial answer pointed us towards further work-up, medical research papers that we could read to learn more, and treatment options.

However, Ryan’s story did not end with BWS. She continued to be in pain for the first 1.5 years of her life because there were several other symptoms that were unaccounted for in the initial BWS diagnosis, and therefore not addressed. With many more doctor’s appointments and our determination to find answers, Ryan was eventually diagnosed with adrenal insufficiency, growth hormone deficiency, hypoglycemia, epilepsy, hydrocephalus, and central hypothyroidism. Once the hydrocephalus was treated with a ventriculoperitoneal shunt (VPS) and her epilepsy was treated with seizure medications, Ryan started to show improvement with her pain. We noticed that she was smiling more.

However, it was clear to us that Ryan was still experiencing pain. Around 8 months, Ryan was no longer feeding and began displaying a swallowing deficiency. We faced a language barrier living in a foreign country, and struggled to communicate to the doctors that Ryan’s feeding issues were severe and required intervention. Although we spoke and understood Thai, medical language in Thai was unfamiliar. To navigate the language barrier and receive healthcare that was more suited to Ryan’s needs, we traveled to Bangkok frequently for a week full of appointments.

After connecting with geneticists and obtaining whole exome sequencing, Ryan was diagnosed with TFE3-Associated Neurodevelopmental Disorder (TFE3) in December 2021. Ryan displayed many of the physical features that are hallmarks of TFE-3, including large ear lobes, coarse facial features, and skin hyperpigmentation. This diagnosis brought a justification for Ryan’s GI symptoms, including her slow eating and constipation.

She was the 21st patient in the world to be diagnosed with TFE3 disorder. At this time, little is known about TFE3 so Ryan cannot benefit from research. However, she is a candidate to contribute to future research and if we can assist in learning more about and treating TFE3, then I would like Ryan to participate in that.

Our family found Rare Genomics while searching the web for more information on TFE3. Once we discovered their rare disease list, we sent a brief synopsis of Ryan’s journey and was connected to a patient advocate. The patient advocate at Rare Genomics Institute (RG) connected us with “Patients Know Best (PKB)”, a UK healthcare platform that puts patients at the center of their health care records and management. We uploaded Ryan’s variant to several self-reportable databases, including the Rare Genomics Project and the Matchmaker Exchange. 

It felt calming when Ryan was diagnosed with TFE3 because we found that some of the other children “looked like Ryan.” We joined a Facebook group with other TFE3 families.

Soon after we received the new diagnosis, we returned to the United States. Here, Ryan has access to more resources and we don’t face a language barrier in healthcare settings. We also benefit from the support of our family members who live in Texas. While obtaining and affording special needs healthcare is a always a challenge, we are committed to continue to pursue what will be best for Ryan.

As a parent my advice to rare disease parents is: “… each parent responds and processes information so differently. For me it was helpful and affirming to receive a genetic diagnosis of a rare disease. However it makes you feel, be aware of that. Do your best to pursue what will help you care for your child best. Take advantage of resources because you can burn out.”