It's Not Rare to Be Rare

When Declan was born with a rare disease, just finding a diagnosis was a journey in and of itself. The fear of the unknown was almost paralyzing. Like a lot of parents, we thought that we were in the clear. We'd done genetic testing, and we were healthy. But what we didn't know was just how many diseases there are out there, and how many don't even have diagnoses.

During our search for answers, I reached out to my friend Matthew Might. Matt and I went to college together, and Matthew too had a disabled child. But Matt wasn't just another parent of another disabled kiddo. And he wasn't just a friend. Matt was and still is one of the leading researchers in diagnosing rare genetic diseases in children, in the country. Matt started out as a computer scientist from Georgia Tech, which is where I met him. His first born child had a disease so rare that a diagnosis didn't exist when his son was born. He took his brilliant ability to parse data through data science, AI, and machine learning, and applied it to medicine, and more specifically to the human genome.

I called Matt one day to talk about Declan and what we hadn't found on his genetic testing.

"Matt," I asked him, "what do you mean we might not get answers?"

"Ashley," he said. "Do you realize how many rare diseases there are? Each individual disease may be rare. But it's not rare to be rare."

He went on to explain to me that of all the rare diseases out there, we maybe had (at the time), diagnoses for half of them. But that new diseases would also continue to crop up because the of new mutations that can happen at any time.

"And here's the real kicker," Matt told me. "Not all of those diseases are even genetic."

We never did find a genetic cause for Declan. We looked. When Declan was 2, we took him to the Moebius Conference in Florida. While we were there, we enrolled him in a genetic study that the Moebius Foundation was working on with a number of prestigious universities to look for genetic causes of Moebius. They finally completed the study and reported results at the conference we attended in Minneapolis in 2022. What they found? No genetic markers. They reported that within the Moebius population, they were able to sort people into three buckets. The main bucket, what we're calling 'Classic Moebius', which is what Declan had, had no genetic causes that they could find. The other two buckets are basically 'Moebius Plus' and did have genetic markers. Essentially, they said that those folks don't have Classic Moebius, but they have a very rare disease that had never been diagnosed and whose symptoms include damage to the 6th and 7th cranial nerves which causes the symptoms of Moebius along with their other issues.

'Rare' diseases effect approximately 3.5% - 5.9% of the world's population. The number is likely higher when including the undiagnosed or not yet classified conditions (easily double).

Moebius Syndrome is noted as effecting between 2 and 20 in 1 million babies. Because Moebius currently acts as a catch all bucket for anyone who has unexplained damage to their 6th and 7th cranial nerves, I personally think it's closer to 2 in 1 million. Either way though, it's definitely a rare one. I tried to explain this in terms that Nash, who is currently 9 could understand. We've taken him to Loons games at Allianz Stadium, which holds 20,000.

"Buddy, there's a lot of people at Allianz when we go, right?"

"Yep," he says.

"Well," I told him, "lets say it's sold out. Busy day. That's 20,000 people. If its 20 in a million, that's equal to 1 in 50,000. That's 2.5 of these stadiums. And only one would have Moebius."

"Wow," he replied. "That's pretty rare!"

"Yep," I said. "Now, if it's 2 in 1 Million, then you'd have to take 50 of these stadiums, completely full. And then it's one person out of all 50 stadiums."

I think his head exploded.