Rare Genetic Disorder: Awareness, Diagnosis & Support

Today, we’d like to listen to Grace Hunter, a physician herself, reflecting on her own medical odyssey with her child.

She shared her story in the prestigious journal JAMA. Her son Jack was diagnosed with a rare genetic condition, the hereditary Angelman-Syndrome. “Baby Jack” adds a deeply personal and human perspective to the journal’s generally research-oriented content. It emphasizes the real-life consequences of medical diagnosis for patients and families, giving physicians and researchers insight into the emotional and personal aspects of healthcare. By presenting a physician-parent’s lived experience, “Baby Jack” not only educates but also encourages empathy and compassion, reminding the medical community that behind every diagnosis is a unique story of resilience and humanity.

Citations from “Baby Jack” by Grace Hunter

https://jamanetwork.com/journals/jama/article-abstract/2829538

© 2025 American Medical Association. All rights reserved, including those for text and data mining, AI training, and similar technologies.

TheKnowHow does not own the text, but shares citations from the text  to raise awareness for rare genetic dirsorders in SMA awareness month.

“I sat in our rural emergency department cradling my baby boy. I struggled to take my own deep breaths as my eyes darted between the nasal cannula in his tiny nose and the monitor on the wall. Two weeks earlier Baby Jack failed his car seat challenge, a 90-minute pulse oximeter test in a car seat administered to premature babies prior to discharge. He was barely premature, and the paediatrician on call had reassured us that many babies born at 6300 feet altitude fail the car seat challenge and that he’d easily pass a few weeks later. That day was supposed to be a simple rechallenge and liberation from the oxygen tank. Instead, Jack was hypoxic in and out of the car seat and the nurses sent us urgently to the emergency department….

The paediatrician came in a few hours later with the results: Jack’s echocardiographic test result was normal, but his viral panel was positive for rhinovirus. I breathed a sigh of relief. But over the next few days, despite Jack not having a runny nose or cough, we couldn’t wean his oxygen…

I didn’t sleep much… I dreaded the frequent trips to our paediatrician, where I would burst into tears and question whether rhinovirus bronchiolitis could last this long…

Despite being a physician myself, I left each time feeling like a neurotic mother rather than an advocate for my struggling child. The differential diagnosis evolved, from rhinovirus to central sleep apnoea to aspiration of unknown aetiology…. When he was 4 months old, I had a terrifying realization that his hypoxia may be due to a more global developmental issue….

As each month passed, I’d think back to the developmental milestones in my medical school textbooks, and each month I’d feel more anxious that Jack wasn’t meeting them. He didn’t sit up by 6 months, he didn’t crawl or babble by 9 months, and he didn’t stand or feed himself by 12 months. We saw multiple specialists, and Baby Jack underwent imaging, swallow studies, sleep studies, and scopes under anaesthesia, with each specialist declaring that the individual organ under their purview was completely fine. I felt deeply alone knowing that something was wrong with my son….

As I write this, Jack is 14 months old and we just received confirmation that he has Angelman syndrome, a neurodevelopmental disorder due to a deletion of the UBE3A gene on the maternal copy of chromosome 15. This condition is characterized by intellectual disability, lack of speech, hypotonia, motor delays, feeding problems, trouble sleeping, and a happy affect, all of which are so evident in Jack….

We are supported by a remarkable team of therapists—occupational, physical, and speech—who push Jack and celebrate his progress, whether holding a spoon or putting weight on his hands….

I’ve also started to appreciate how much Jack has changed me. For one, he’s made me a better physician. I listen more carefully to my patients’ perspectives and experiences of illness….

 As I’ve struggled to reconcile with a reality that I would not have chosen, I’ve found comfort in the idea that Jack chose me. He chose me to love him, laugh with him, and celebrate his resilience and achievements. In choosing me, he has shown me how strong I am and forced me to reconsider how I think about choice. I don’t think Jack would have chosen Angelman syndrome. He would have loved to communicate with words and move easily through the world. But even though neither of us chose this path, we can choose to travel it together with pride and joy. And we are lucky for that.”