Because The Story Matters

Now is the time for change.

I'm tired and frustrated. My usual approach to solving a problem isn't working. As an engineer, I much prefer to sit quietly in the back and make a spreadsheet to solve problems. I hate sharing my personal stories and especially feelings, but all the spreadsheets and testifying with facts and figures aren’t going to bring equity to newborn screening. 

So, this is now my attempt to Brené Brown it in hopes of moving newborn screening in line with the values and ethics of the twenty-first century. By helping to share authentic vulnerable stories about how the pain of the diagnostic odyssey could be alleviated, research can be advanced, and treatments accelerated by expanding newborn and childhood screening for heritable disorders. 

I'll start with our own story.

Our journey is unique and at the same time all too common. We are just one of the thousands of stories about finding a proper diagnosis. 

For us, it all began with the birth of Evelyn (Evie). After struggling with infertility for years and having multiple miscarriages Evie’s birth was the was the brightest day of my life. She was all pink and healthy and I swear she was already smiling by the time we were discharged from the hospital. By her two-week checkup though, I was mentioning to the pediatrician that she was spitting up constantly, it was really hard to get her to sleep at night, and she felt like you were holding a bag of water. My concerns were dismissed and we were sent home. 

Over the next months, I continued to ask if something was wrong but was told that this was my first baby - everything was normal. By three months old Evie had almost no muscle tone. When you would lay her down, she looked like you had poured a puddle on the floor. She was still spitting up all day. I asked if she could have a metabolic disorder because of the constant spitting up and the pediatrician snorted a laugh at me and said no because they test for those at birth. At the time I didn’t know what newborn screening was. From there I began asking to see specialists and never went back to that pediatrician. 

After several specialists, we were sent to the pediatric neurologist – it took almost a year to get an appointment and to have the testing ordered. A microarray and a (misread) MRI later we were told everything was normal. Again, I asked about metabolic disorders and was told no her newborn screening was normal, I was a new mother and children develop at different rates, the neurologist's son didn’t talk until two and now he was at Stanford – just be patient, come back in a year.

By this time Evie had a global developmental delay, her babbling had stopped, and she was only just sitting up at thirteen months, but still toppling over. It was still very difficult to get her down at night.

It is quite painful to experience what you know is happening and at the same time be told that what you were experiencing has no meaning. It made it very easy to shrink and shut down and accept it. Especially after being told over and over again that nothing was wrong and to move on. 

A few months later though I requested to see a developmental pediatrician. Again, it was a months-long wait, full of hope and anxiety, for the appointment. After neuropsychological testing, we were offered an Autism diagnosis. Autism in no way fit her. Although her speech was delayed, she smiled and giggled at silly things, loved to be held and cuddled, and always wanted you to engage with her. We refused the diagnosis and were offered a developmental delay – not otherwise specified. Again, I asked if could it be something she was born with, but no those tests were done at birth.  

Days before Evie turned two her little brother Jack was born. The first thing I asked was how was his muscle tone. His muscle tone was fine, he nursed fine, and he slept fine. Thank goodness.

At her two-year pediatric checkup, I asked what were the tests done at birth, her pediatrician said newborn screening for PKU disorders. I asked if she could have one – probably not because her screening came back normal. I asked who specialized in those disorders and after standing in the office and refusing to leave, we were given a referral to the metabolic geneticist. It was an eighteen-month wait to see the metabolic geneticist. So back to the pediatrician to request for them to get a list of tests that the metabolic geneticist would order and to order them for Evie. A week later her pediatrician called and said Evie has a metabolic disorder – I’m not sure how to pronounce it though. Evie has Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) an inborn error of GABA metabolism. SSADHD causes a host of serious neurological effects. 

The next day the metabolic geneticist called, he wanted to see her the following week. He had only ever read about SSADHD and wanted to see a patient in person (guess the eighteen-month wait was only for the uninteresting). 

SSADHD is autosomal recessive, which means parents each carry a variant that causes the disorder but are unaffected. Two carriers who have a child have a 25% chance of having a child with the disorder. 

Jack was doing great at three months– pushing up, strong head control, rolling over – since it is a genetic disorder though we had him tested and he also has SSADHD.  It was heartbreaking to accept because he was doing so well the first few months. By six months old though the symptoms set in and it was clear.

SSADHD doesn’t have a treatment so it isn’t included on any state newborn screening panel. Like most rare disorders it is highly under or misdiagnosed. The value in having a diagnosis isn’t only a treatment. A treatment is just (sometimes a very small) part of it. 

You deserve to know what is happening to you, you deserve not to be poked and prodded for years on end, you deserve the right to advocate for your disorder, to participate in research, to plan for your future, you deserve to have your symptoms and experiences validated, and you deserve the right to be a part of a patient community who share your experiences – not be lost and all alone.

Newborn screening is the most far-reaching public health policy in the US. Over 99% of babies born in America are screened at birth for a very small set of disorders. There are now over 2,000 known metabolic disorders included in the 10,000 known rare disorders of which less than 1% are screened for on newborn screening panels. Physicians are woefully unaware of what is and isn't included on newborn screening.  It is an opt-out program where parents aren't given a choice if they want expanded screening for their child for disorders including those that don't have a treatment. 

Current newborn screening sends you out into the diagnostic odyssey with a false negative for all other metabolic and genetic disorders. 

Having a proper diagnosis for Evie and Jack has let me launch a company, raise adequate funding to run a clinical development program to develop a therapy, and run a private screening program for SSADHD. That was easy compared to shedding light on the quagmire of inequities in newborn screening. 

Reflecting on our journey so far, including countless setbacks, the hardest part has been the loneliness and anxiety of the diagnostic odyssey. I don't want others to have to continue to be lost and alone.