Alex and Caroline's Story

The Rare Genomics Institute’s RareWear program connects rare disease patients to medical device providers, which offer free devices to help patients to better monitor and manage their conditions. RareWear is an ongoing program and patients are welcome to apply throughout the year. Learn more about RareWear here: https://www.raregenomics.org/rarewear/home.

Caroline Cheung-Yiu is the parent of a child living with a rare disease. Her son Alex is a RareWear participant who was issued a device in connection with the RareWear program which monitors vital signs. Caroline graciously shared her family’s story with us in the hope of helping others who might benefit from the RareWear program.

Caroline Cheung-Yiu has learned about rare diseases from the heart-wrenching perspective of a parent. No parent wants to discover that their child is seriously ill, but for parents and families of patients with rare diseases, the burden of illness often begins with a bewildering diagnostic odyssey - a difficult and indefinitely long search for a diagnosis. Without a diagnosis, patients with rare diseases and their families are left to search for answers and options. For Caroline’s son Alex, that search began during early childhood and lasted more than 12 years. To date, it has not led to anything resembling disease management or a cure. Nevertheless, Caroline and Alex’s story is one of faith and hope.

Alex seemed like a normal, healthy boy from the time he was born until he began to walk. But around the age of two years old, he started having noticeable problems with coordination and balance. From there, Alex’s small problems turned into bigger problems.

Soon after she began noticing these problems, Caroline started creating a visual record which would eventually be crucial in finding a diagnosis for Alex. Early in the video record, it seems as though little is wrong with Alex other than clumsiness: he would often reach to pick up a toy and miss, but then succeed on his second attempt. Between the ages of five and six, Alex started having difficulty walking without supporting himself against a wall or railing. At age six, the video record shows Alex trying to remain standing but falling. In that moment, viewers of the record can hear Alex voice a range of emotions - fear, embarrassment, and finally, bewilderment. Under any other circumstances a parent would come to their child’s aid. However, in this case, the best Caroline could do for Alex was to continue recording. The video was an important tool to be able to provide doctors with a record of Alex’s worsening symptoms, in the hope that someone might have answers.

Alex stopped walking when he was six years old. His speech became more and more slurred and almost incomprehensible by age seven. Around the same time, problems with tactile mobility made it difficult for Alex to pick up food and feed himself. From ages eight to ten, Alex’s nights were filled with painful, uncontrollable muscle spasms. Without a diagnosis, Alex’s condition worsened in the following years: he began to have seizures and he lost his ability to swallow or eat. Alex experienced a decline in his respiratory function which eventually resulted in a lung collapse. Since that time, Alex has required round-the-clock bilevel positive airway pressure (BiPAP) ventilator support.

An error of circumstance led to Alex’s genome being retrieved from diagnostic cold cases, resequenced and reanalyzed based on recently published research. Alex’s symptoms and genome sequence came together as a match with a recently documented disease in the database. With that sequencing came an answer: Alex’s decline was caused by a mutation in his interferon regulatory factor 2 binding-like (IRF2BPL) gene. His condition is referred to by the National Institutes of Health (NIH) as an IRF2BPL-related disorder. More information on Alex’s disorder may be found here: https://rarediseases.info.nih.gov/diseases/13666/irf2bpl-related-disorders.

For Caroline, having a diagnosis for her son Alex gives greater meaning to the difficult journey of rare disease: it means a better understanding of what led to Alex’s decline in the first place, and can allow Caroline to connect with other parents of children living with the same condition as her son. Though diagnosis may not immediately lead to effective treatment, programs like RareWear can further support patients and their families in unique condition monitoring and management needs.

RareWear program helps support rare disease patients by connecting them to technology that can help in monitoring and managing their conditions. Alex was issued a wearable device through the RareWear program which monitors his vital signs, including his oxygen levels. Information from such devices can be integral to symptom management for patients both prior to and after diagnosis of a specific condition.

After utilizing RareWear’s services, Caroline was impressed with the all-volunteer workforce and the effectiveness of the RareWear program. Caroline stated, “a lot of communities help with the diagnosis of rare diseases, but no one sees what happens after diagnosis…[since] research takes years. In between, we need condition management devices to make life more bearable. [RareWear] fills in the void between diagnosis and when there is a drug or cure available. [RareWear] helps address the needs of daily life.”

Caroline concluded, "I support the RareWear program because bringing medical devices at no cost to families can improve their quality of daily living. The patient experience is (also) useful for medical device manufacturers in the development of their devices: patients’ feedback on products is also taken into consideration during regulatory approvals. RareWear is new, and nothing like I’ve ever seen before. I hope (the Rare Genomics Institute) expands the program in the future."

RareWear has partnered with digital health companies to provide patients with the latest available medical device assistance to help the patient and their physician monitor or manage a rare disease condition. We hope to help patients understand their current needs and the type of medical assistance that may be required. Patients (or caregivers of patients) interested in this program are supported by a member of the Rare Genomics patient advocacy team to help them through this process. If eligible, Rare Genomics connects patients to one of RareWear’s sponsoring companies to provide a device free of charge.

If you are interested, please fill out our application form and help us learn more about you or your loved one's condition. https://raregenomics.wufoo.com/forms/rare-genomics-institute-patient-application-form/

To learn more about Alex’s story, visit https://www.alexsodyssey.com/ “Our relentless journey from seeking diagnosis to moving towards treatment and cure.”

Additional Resources:

https://www.childneurologyfoundation.org/disorder/irf2bpl/

https://www.simonssearchlight.org/research/what-we-study/irf2bpl/