It all began with a lab draw that took one hour, two phlebotomists, three attempts and countless tears to get enough blood from our son, Teddy. We headed on vacation later that afternoon, joking that the song “Bruises” on the radio was now Teddy’s theme song. The blood draw was our last hope for a diagnosis for his unexplained delays, hypotonia and worst of all, seizures.
At that point, even though Teddy hadn’t quite reached his first birthday, we’d exhausted all traditional tests, labs and even a handful of genetic tests. Every test came back normal or negative, despite the obvious challenges Teddy faced. We were glad for every horrible possibility that was ruled out, yet we desperately wanted to know what caused Teddy’s challenges. We wanted to be able to ensure our son received the medical treatment he needed to survive and thrive.
That painful blood draw was the start of exome sequencing, a genetic test that was our last hope for answers. We were told there was a 25 percent chance we’d get results from this test, which were remarkably good odds for genetic diagnostic testing, even though it’s rather poor odds in general. If these results came back normal, the next option was to wait a few years and review the exact same data to see if any medical discoveries had been made.
Our geneticist’s explanation of exome sequencing was that it was essentially scooping up all the DNA and looking at the exomes, which is the part of DNA most understood. Any discrepancies found would be matched against known databases for potential diagnoses. Any discrepancies found in Teddy’s DNA but not ours as parents would be ruled out because neither of us have delays, hypotonia or seizures.
Along with that explanation came quite a bit of paperwork. We had to sign releases agreeing to pay whatever portion of the $20,000 test wouldn’t be covered by insurance. We had to make decisions about whether we wanted to know about information discovered through genetic testing that didn’t explain Teddy’s current challenges. Those decisions were like opening Pandora’s box:
Did we want to know about genetic markers for diseases that could impact him as a child?What if those diseases had no known treatment? Did that change our answers?
Did we want to know about genetic markers for diseases that could impact him as an adult?Again, what if there was no treatment or cure for those diseases? Did we still want to know?
We wanted all the answers we could get, so we opted to learn everything. And then we spent the next several months praying and hoping that we only got the answers we wanted and nothing more.
Yes, months. Teddy’s blood was drawn on July 3. The three-hour appointment to discuss his results was scheduled November 17. We couldn’t fathom that a genetics appointment would actually last three hours. But it did.
Those three hours changed everything and nothing for us. We walked in expecting to hear that we were in the 75 percent who didn’t get answers from this test because that’s how every other test was for two years. Instead, we heard that Teddy had a mutation in his PIGN gene. He inherited recessive mutations from each of us and had a condition called multiple congenital anomalies hypotonia seizures syndrome 1 (MCAHSS1). This condition was first discovered in 2011, and as far as our geneticist could tell, Teddy was the fifteenth person in the world to be diagnosed.
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A three-hour doctor appointment to review results is a long time, but it’s not nearly long enough to process that information. It’s also not long enough to recall the brief chapters on genetics from my high school biology classes. It would take much of the next year to fully understand and come to terms with his diagnosis. It wasn’t that reading all the medical research about it took that long—at the time there were only three results on Google. One of those was a medical research paper that detailed a life expectancy of three years, which wasn’t really comforting to read when your child was 2.5 at the time.
Teddy’s diagnosis didn’t change who he is or how much we love him. It didn’t change what he’s capable of doing in life. We did decide after not to have any more children. It did give us a name, which makes pursuing services and therapies easier, but there is no treatment or cure. (That name has evolved through the years to congenital disorders of glycosylation-PIGN.)
The most important thing that a diagnosis gave us was a sense of community. It took more than a month, but we connected with another family with the same diagnosis, and then another, and then another. Now our small group contains families from around the world who celebrate each others’ successes, mourn each others’ losses and share advice because collectively we know more about this diagnosis than any doctor in the world. That alone was worth the years of searching and the literal blood, sweat and tears of the testing process.