Oct 2020 Variety Guest Essay by Lindzi Scharf
“Holy f—.” Those were the first words my daughter, Evan, heard the moment she was born. So I assumed. As they placed her 6 pound, 9 ounce body on my chest, those were the first words that came to mind. I’d just pushed a tiny terrorist out of me after 9 months, 5 days, and 10 hours. With each contraction, my mantra had been, “Amy Poehler and Tina Fey have done this. You can do it.” Anyone who has experienced pregnancy and childbirth can attest – childbearing can feel a bit like the Noomi Rapace scene in “Prometheus,” while childbirth is a lot less funny than “Knocked Up.” So yeah – “holy f—” felt appropriate.
However, it turned out Evan hadn’t heard me. She was born deaf. I guess my husband and I should have known since our three noisy Chihuahuas never seemed to wake her during the first few weeks of her life. Instead, it took a handful of auditory brainstem response (ABR) hearing tests to convince us that what we knew in our hearts was true. Evan had bilateral sensorineural hearing loss. But how and why? No one in my family had congenital deafness.
This unexpected news was just the first in a series of strange symptoms that when examined individually, seemed like nothing. But as any geneticist – or true crime novelist – will tell you, there is no such thing as coincidence. Despite a beautiful pregnancy and delivery with every prenatal screening and precaution taken, Evan was born with severe reflux and GERD, an inability to keep weight on, a herniated belly button, a PDA (hole in her heart), mild hydronephrosis, and laryngomalacia – all medical terms that I wish I didn’t know how to say or spell, but issues that were predicted to correct themselves on their own over time. Even so, this gnawing feeling that something was wrong stuck with me. At four months, our daughter slept more, moved less, and seemed considerably smaller than other babies her age.
Our paediatrician sent us to a children’s hospital for what we were told would be a 3-5 night stay for observation. After a series of tests, x-rays, and ultrasounds, doctors told us: “She’s too small, too thin.” “Her hips are inconsistent with her legs.” “Her feet have abnormalities.” “Her head is abnormally small.” What was this? A Hollywood casting session? I looked down and saw a perfect child. Why were they seeing something I wasn’t?
Things only got worse. A PICC line for daily blood work. A muscle biopsy. A feeding tube. An MRI spectroscopy. (Try say that five times fast. One of the attending doctors stumbled over it each time himself.) Still no explanation.
Then one day, a medical intern couldn’t contain her excitement. “We have a working theory,” she said, her voice an octave higher. “I might as well tell you now because we’re going to discuss it with you as a team tomorrow morning…” She wrote the umbrella diagnosis on a marker board.
At least a diagnosis meant treatment. Treatment meant hope. But the young doctor’s performative furrowing of her brow told me otherwise. I decided against a web search, figuring no good ever comes from Dr. Google. However, it turns out no good can come from anyone when your daughter has an incurable disease so rare that most doctors only know from them through research papers versus practice.
So what did this mean for our daughter? The on-call geneticist blurted out that Evan would never walk, talk, and a list of other horrors. Unlike other diseases, early detection and intervention doesn’t equate to prevention. It only reveals the severity of the disorder. Some people are diagnosed in their teens or as adults. Our daughter was four months old.
Several days (and sleepless nights at the hospital) later, another geneticist drew a bunch of squiggly lines on a piece of paper to explain how mitochondrial function does (or in Evan’s case—doesn’t) work. In short, mitochondria are present in every cell of your body and create more than 90% of your body’s energy – right down to organ function, the heart, brain, muscles, and lungs. Having a mitochondrial disorder is the equivalent of trying to power a mansion using a double A battery. Or in terms more appropriate for our industry friends, it’s like trying to power an entire film set using an iPhone.
But how could this happen? I’d skipped caffeine and sushi. I took my prenatal vitamins. I ate well. I thought I’d done everything right. While I was assured there was nothing I could have done differently, that doesn’t provide any solace when you can’t protect your child.
Mitochondrial diseases are the result of either inherited or spontaneous mutations in one’s DNA. Except Evan’s exome sequence revealed that Evan did not have one of the roughly 200 known mitochondrial disorders. After a nearly two-month hospital stay, doctors still had a running theory, but were collectively scratching their heads. Even so, we were given outdated stats that other children in Evan’s position had passed away between the ages of 16 months to 4 years old. (However, it should be noted that every child’s experience and life expectancy differs based on the level of severity and specific diagnosis.) There is no cure or FDA-approved treatment for those with mitochondrial diseases. The only therapy is a series of over-the-counter vitamins, which provide little – if any – relief.
“So, you’re telling me we’re going to leave here with a $500,000 hospital bill and prescription to GNC?” my husband said dryly. The doctors laughed. Meanwhile, I felt the sharpest pain I’d experienced since giving birth. To spare you the tears and frustration we felt over the next period of time, I’ll borrow from movie magic and merely say, “CUT TO: ONE YEAR LATER.”
We still didn’t have an actual diagnosis. My daughter was a medical enigma, one that even the world’s leading researchers on mitochondrial disorder struggled to wrap their heads around.
Finally, a break. We were referred out to Rady’s Children’s Hospital in San Diego. It was worth the three-hour drive from Los Angeles – and four hours of traffic back. For the first time in my daughter’s life, our family felt seen and heard. Dr. Haas and Dr. Wigby’s kind bedside manner wasn’t an act – and if it was, I don’t care, give them an Oscar. After spending hours going over Evan’s medical history, they asked how we – as a family – were doing and advised us on a personal level. Most importantly, without hesitation, they immediately ordered a full trio genome sequence. Since insurance refused to cover it, the Rady Children’s Institute for Genomic Medicine stepped up to make it happen. As the pandemic unfolded, the doctors at Rady’s kept at it and – finally – managed to diagnose our daughter.
KARS. Four letters. 26 children. 14 families. Worldwide. The “mito community” is even smaller than Hollywood, which is why there’s so little research and funding behind Evan’s condition. The last guy who dedicated his career to this specialty has since gone into private practice because, as rumour has it, the research facility he worked with preferred to go where the money is – in marijuana. This doctor now operates a “cash practice” and charges patients $1,000 out-of-pocket for a consultation. While he makes no claim that he’ll be able to help identify the underlying causes for a child’s disease and also “cannot promise you that any cause or factors that are found will be treatable,” he does promise that he “will really listen to you.”
This is why we need organisations like the Rady Children’s Institute for Genomic Medicine’s Precision Medicine Clinic, The United Mitochondrial Disease Foundation (UMDF), and the Undiagnosed Diseases Network to do the work they do – to diagnose the impossible, to push science forward. Not because it’s a money-making endeavour, but because it’s needed by families all over the world and by parents who are desperate to give their kids a chance to walk, to talk, to see, to hear, to thrive, and to live. Research into mitochondrial diseases could also benefit millions who are impacted by other more common diseases and medical conditions including Alzheimer’s Dementia, Parkinson’s disease, heart disease, various cancers, Huntington Disease, Amyotrophic Lateral Sclerosis (ALS), deafness and blindness, diabetes, obesity, cardiovascular disease and stroke, since all are impacted by various forms of mitochondrial dysfunction. Therefore, supporting mitochondrial disease research isn’t just the right thing to do – it’s the selfish thing to do.
Each time Evan goes to one of her 14 specialists they remind us that we, as a family, are operating on the fringe of scientific understanding. While we’re in a hopeless position, we are hopeful that – with the help of various research foundations – other families will one day find themselves in different territory. In the meantime, we relish our time with Evan and have fully embraced her reality.
She’s now two years old. Strangers often guess that she’s four to six months. “She looks young for her age,” we’ll usually say with a smile, then go on our way. There continue to be many daily challenges, but my husband and I prefer to focus our attention on the joy that Evan has brought into our lives.
Thanks to a cochlear implant surgery, Evan can now hear. She *loves* music. My husband taught himself two songs on the guitar. (He’s working on updating his repertoire. Hey, he’s a photographer. Not a musician.) And while I’m a terrible singer, I’ve embraced the motto “sing like nobody is listening,” knowing that even my pitchy voice is music to my daughter’s ears. I know this because she smiles with every out-of-tune note sung.
Evan is also obsessed with books and demands you read to her for hours. “Llama Llama Red Pajama,” “Everything is Mama,” “The Pout-Pout Fish,” “Brown Bear, Brown Bear” are among her favourites. In Gaelic, Evan means “young warrior” and our little girl is living up to her name. In the process, she’s teaching her parents to be as brave as she is. We don’t know what each day brings, but in the meantime, we are soaking up every second with this joyful child who has taught us what really matters in life. The way we see it – just because you think you know how a story ends doesn’t mean you shouldn’t embrace the journey.
Meanwhile, I got a do-over. The first words Evan heard out of my mouth were the words I signed to her every day leading up to her cochlear implant surgery. They were: “You are a beautiful girl and a strong girl named E-V-A-N. Me? I’m Mama.”