It Took 32 Years to Name Her Daughter’s Condition. Then She Found Probably Genetic

Fidji Simo, OpenAI CEO of Applications and Chronicle Bio Founder, speaks on AI & Rare Disease at CNBC Cures. (Video: CNBC Cures)

‍

‍

It Took 32 Years to Name Her Daughter’s Condition. Then She Found Probably Genetic.

‍

Probably Genetic works with families every day who are searching for diagnostic answers.  They meet families early in their journey or who have been searching for years.  Sometimes, they help families like Betsy’s, who have been waiting decades.

‍

Betsy’s Story, In her Words

‍

My daughter Kali showed signs of developmental delay early in life.  She met her first milestones as a baby – rolling over, smiling – and then her progress stopped. She didn’t sit up or babble, and her muscle tone was almost nonexistent. Kali had trouble swallowing, which made feeding and burping a long, arduous process each day. Kali’s development went into ultra-slow motion.

‍

Like many parents, it wasn’t immediately apparent to me or her dad just how outside the typical range Kali’s development was. When she was eight months old, one of Kali’s doctors gently pointed out that she held her hands in a fisted newborn position, which meant something was wrong. My initial reaction was anger – “how dare anyone suggest something is wrong with my perfect baby?” But that’s what triggered our diagnostic journey, and I have since learned to be grateful for that doctor’s astute observation.

‍

Kali was a little over a year old when she had her first developmental assessment. I will never forget the moment we got the result. I was standing with Kali in my arms while the doctor explained to me that her developmental age was actually three months old, and the next thing I remember I was sitting on the floor holding Kali, disoriented. I had blacked out. The moment the words were spoken, I knew in one profound flash that something was terribly and permanently wrong, and our lives would be changed forever.

‍

This was in the mid-1990’s, and there wasn’t much in the way of DNA testing. Doctors ran the standard gene panels available, and checked Kali’s metabolism, hearing, and vision. Finding a specialist (even if we could have afforded one) wasn’t really an option since we didn’t know what was going on. Kali’s pediatrician researched for months looking for an answer, but in the end told us, “I don’t like to say this, but I don’t know what it is.” That was a big, weird moment, because doctors don’t do that. Doctors are the people we rely on to be experts.

‍

By the time Kali was two, we had a diagnosis of “presumed Angelman’s syndrome.” Angelman’s is a congenital genetic disorder characterized by severe developmental delay, intellectual disability, low muscle tone, and usually complete lack of speech. One of the clinical symptoms for Angelman’s is frequent laughter. Later, Kali received an “educational” diagnosis of autism, which enabled her to receive specialized therapy and services and gave teachers a way to understand her sensory issues.  

‍

By the time Kali was 20, we were left with just one medical diagnosis – “syndrome not otherwise specified” – a placeholder that explained nothing. Angelman’s and autism diagnoses may have been provisional, but they were at least a kind of life-raft to help therapists and educators understand her needs. 

‍

Caring for a child with complex needs can be profoundly challenging at all levels of personhood. It’s filled with uncertainty, and is also isolating. For years I had no time to socialize, and when I did, my experience of life differed radically from the “norm.” Simple questions like “do you have children?” are laden with assumptions, and I eventually stopped trying to explain. Without a diagnosis, I had no shorthand, no shared language, and no clear community.

‍

Over the years, I thought now and then about resuming the diagnostic search. I knew genetics had advanced radically since the nineties. But without a target diagnosis, I had no idea what to look for. I had also been told that there was little or no chance that insurance would pay for testing.

‍

The Conversation That Changed Everything

‍

Last year, I was texting with a friend who lives in another state. She mentioned she was caring for a child with a rare neurogenetic disorder, and in passing mentioned that one of the symptoms was laughter. This immediately got my attention. I asked if the child has Angelman’s syndrome, as laughter is unique to Angelman’s. She answered me with two words: Pitt Hopkins.

‍

Every sensor went off in my head, and before we finished our conversation, I was Googling. The symptom list was startling. Pitt Hopkins explained everything – low muscle tone, lack of language, sensory issues, breathing irregularities, and so much more. I found photos online of people who looked like Kali’s doppelganger. One of the photos was so like her that if someone had shown it to me and said it was Kali at the park, I wouldn’t have thought twice about it.

‍

I was determined to get Kali tested, with or without help from insurance. I was elated to find direct-to-consumer testing, only to realize just how expensive it would be, and how incomplete. The companies I identified just ran data, with no interpretation and no supportive resources. Then I found Probably Genetic through the Pitt Hopkins Research Foundation.

‍

It seemed too good to be true. Probably Genetic is free for eligible rare diseases, with interpretation and consultation. I submitted the online application, and was quickly notified Kali was eligible for free testing based on her symptoms. We received the test kit in the mail, took the leap of faith, and sent it in.

‍

Long-Awaited Clarity

‍

Within about a month – from application to results – we received confirmation. Kali has Pitt Hopkins syndrome. I can’t explain how it felt when I read the results. My emotions exploded. After 32 years, we have a real, definitive answer. Finally having a diagnosis is profoundly meaningful for me and our family, and we are forever grateful to Probably Genetic for making it possible.

‍

Probably Genetic

‍

Probably Genetic was able to diagnose Kali thanks to its rich dataset, which is powered by OpenAI’s algorithms. Probably Genetic’s dataset has aggregated data directly from over 100,000 patients – including clinical records, patient-reported information, and biological data including DNA – and has plans to build the largest AI-ready patient dataset in the world.

‍

"Probably Genetic’s technology delivers industry firsts while also creating new possibilities for patients,” said Fidji Simo, CEO of Applications at OpenAI. “The tenacity exemplified by Betsy in her quest for answers for Kali is the same tenacity that propels Probably Genetic to bring clarity and comfort to patients everywhere. We are excited to be part of this work.” 

‍

Today, Betsy tells those who ask that the diagnosis hasn’t changed who Kali is. It hasn’t rewritten decades of caregiving or suddenly introduced a cure. But, Betsy says, it changed everything.

‍

“Having a name matters,” she said. “It’s like finally naming the monster under the bed. It's so disturbing to have a situation that you can't even put a name to. And it's disturbing in a fundamentally human, emotional, psychological way.”

‍

After 32 years, Betsy now has language for what her family has lived with all along. The diagnosis has validated her instincts, her advocacy, and her experience. It’s also opened the door to emerging research, clinical trials, and a future that – while uncertain – now has valuable, precious context.

‍

In the meantime, most of the time, Betsy can’t believe how things have turned out. “My friend moved to a place where, at least according to the census data for Pitt Hopkins, there are only three individuals in the entire state who have it – and she knew one of them,” she said. “What are the chances? Probably Genetic is a huge part of our miracle.”

‍