The Scott Story, As Told by Laurian Scott
John and Laurian Scott are Thisbe and Noah’s parents. We will never get over the loss of our daughter and our son, and their suffering is something we will equally never be able to reconcile. For those of you who have supported and loved us while we traveled this road, we are forever grateful. For those of you just learning about the Thisbe and Noah Scott Foundation, this is our story:
Elenna “Thisbe” Scott would have been three on July 11, 2007. She was healthy the first 16 months of her life and sick beyond all comprehension the last 17 months.
It took five very long months to get a diagnosis. Nearly every pediatric neurologist from UCLA to Stanford and Boston Children’s to the NIH could only tell us, “I’ve never heard of it.” Even the diagnosing physician had never heard of it but found it by googling Thisbe’s symptoms. Eventually, we found one doctor who had seen a case like hers — 30 years earlier.
The medical term is progressive bulbar palsy (PBP), which is not a specific disease but more like a constellation of symptoms. These include the loss of swallowing, breathing, speaking, communicating, seeing, laughing, smiling, and eating. When this syndrome also involves hearing loss, it has been named Brown-Vialetto-Van Laere (BVVL).
In Thisbe’s case, BVVL began by paralyzing her vocal cords, and it kept on taking until there was nothing left – except her mind. As if this disease were not torture enough for a small child, it spared her mind so that she also cognitively suffered the ravaging of her little body.
It began on Thanksgiving Day of 2005, with something seemingly as simple as a wheeze. But within five weeks, we learned it was by no means something simple. Her vocal cords were paralyzed in a near-closed position, and she was having a hard time breathing. The motor neurons that controlled the muscles for speaking and breathing had been dying over the course of that month. As more neurons died, the muscles received less and less stimulation to move, and eventually, they just stopped moving altogether. The only way to keep her from suffocating was to give her a tracheostomy: a tube in her neck that connected her lungs to the outside air that she breathed. Due to this unnatural mechanism for breathing, she developed repeated pneumonias and tiny “plugs” of mucus in the tube over time. These plugs repeatedly cut off her airway, sometimes as often as several times a day. In essence, each time she “plugged up” she was suffocating again and again – over and over, and we would rush to try to open her airway through the emergency procedures we’d learned in the hospital and from others we’d learned “in the field.”
Eventually, because of a slow descending paralysis, Thisbe lost her ability to walk, hold up her neck, pick up her arms, move her fingers, and so much more. We felt as if we were watching our daughter being buried alive in her own skin. Her mind was perfect. She knew what was happening to her, but she couldn’t understand why. In the beginning, she learned to communicate using sign language, but as she began to lose her arm, hand, and finger function, this became more and more difficult. And like any two-year-old, she would get frustrated. After all, she had swapped her beautiful, healthy life for a life where machines kept her alive and connected to a wall.
On Thanksgiving Day of 2006, exactly one year after her symptoms began, Thisbe developed a mucus plug that suffocated her…to death. She died in our arms, only to be resurrected by our crude emergency procedures and brought back to her hell to survive another five months. On April 30, 2007, Thisbe died. She was two months shy of her 3rd birthday. Our little Thisbe could fight no longer.
She was our baby girl; our paci juggler; our daddy’s girl; the “busy bee”; the “wild” one; the gigantic smile; the lover of time outs, blueberries and tofu dogs, bath time, reading books, We’re Going on a Bear Hunt, Signing Time with Alex and Leah, Baby Einstein on planes, being the expert at animal signs, the “all done,” “Daddy,” and “book” signs, going to the zoo, feeding the ducks, exploring for “treasures,” digging in wallets and purses, playing games and doing puzzles, pushing the doll stroller, making castles in the sand, riding in the red plastic car, making Panga eat bubbles; The Sparkle in Our Eyes, and she was gone.
One month after Thisbe’s death, the other unimaginable happened. Our son, Noah, just ten-months-old at the time, began showing one of the initial symptoms of the same disease: a droopy eyelid. In Noah’s short life, despite his seemingly good health up to that point, he had endured open-heart surgery when he was just three-days-old to repair a congenital heart defect called Transposition of the Great Arteries (TGA). We found out about this condition when I was six months pregnant. The doctor told us we should abort him, due to everything we had going on with Thisbe and with other possible complications that may be undetected. But he was our son, and we wanted to keep him. We decided to take a leap of faith. After all, in our world a congenital heart defect was easy. We were actually grateful for it because there had never been a recorded case of BVVL with a congenital heart defect. To us, that meant he was in the clear as far as BVVL was concerned. BVVL was a beast no one wanted to face, but TGA we could do, and we could do it without a hint of fear. Noah was going to be our salvation – a sign from God that the waters would recede, that Thisbe would get better, and this nightmare would be behind us. Noah was our final hope for a miracle.
When Noah was born the doctors found that he had no other congenital anomalies, just “straight-up TGA.” We delivered him at Stanford so that the best TGA surgeon in the world could repair his heart. When he came out of surgery, they said it was one of the smoothest repairs ever. Then, Noah surprised the entire surgical staff by soaring through his recovery and being released just eight days later. They called him the “Little Superman.” He was our healing miracle, our little “Manny,” and we felt that he was here to give his sister the push and inspiration she needed to get well. It was all supposed to get better from there. Or so we thought.
So much for all of our hopes and dreams for miracles unceasing. When we returned to Phoenix, Thisbe progressed into the depths of the disease. Within two months we had to face the reality that we may actually lose our fight – that she may actually be taken from us. And she was. But that wasn’t to be the end of our horror. When he was ten-months-old Noah’s eyelid began to droop. Doctors said it had to be a coincidence – that maybe during his TGA repair a nerve was slightly damaged. And that’s what we chose to believe, that it was all just the blackest of all jokes. None of us would believe that he, too, would succumb to BVVL. We were all wrong. Two months after seeing his droopy eyelid, I took him in for a hearing test. He had passed the previous one, as well as all of the other tests for motor neuron involvement, but I couldn’t stop thinking that he seemed to not hear me some of the time. I wanted to prove that it was all in my head. I was convinced that my overwhelming grief and suffering over the death of Thisbe was causing me to be paranoid. I was devastatingly wrong. The second test confirmed hearing loss. Most parents who get a concerning hearing test result don’t suffer and despair as though it is a death sentence. But for us, it was.
Two weeks later, Noah’s vocal cords were paralyzed, although in a slightly more open position than Thisbe’s had been. Within five months, our son had lost all facial expression, and his walking became clumsy. His hand grasp was weakening, but he could still shoot hoops with the big boys. We had no idea how close we were to losing him. I had to hold onto a semblance of hope to be able to get up and face each day without my daughter, and now with the crushing thoughts of the death of my son, too. My lifeline: his TGA. “He had been born different, so his disease path may be different.” I held tightly to this thought. His TGA became my hope that maybe somehow in his embryonic development this anomaly of TGA with BVVL just may have thrown off the inevitable destruction that typically occurs. Again, we had hope, and we pressed on.
We continued to search for treatments that we hadn’t been able to give Thisbe, and when they seemed to be failing we moved on to another path: finding the gene responsible for BVVL. During our final attempts at finding another treatment, we were told that if we found the gene we would find help. My last hope was that he could hold on long enough for us to find that help.
Nine months after the onset of his disease, on April 9, 2008, Noah died. He was five months shy of his 2nd birthday.
He was our baby boy; our little superman; our “Manny”; our mama’s boy; the sweet and patient one; the little chef, pro-burger-flipper; the computer whiz; our lover of drums, pacis, bath time, sage sausage, T-bone the dragon, music class, the Johnny Jump Up, Barnyard Dance, Rihanna and Fergie, all things related to tractors and steering wheels, balls of every type and size, basketball, tee ball and soccer, Baby Signing Time, swinging in the best of all swings, the “more” and “hat” sign, riding in the red plastic car, making Sherpa fetch the ball; The Beat of Our Hearts, and he was gone.
Just like his sister, Noah died in our arms. He fought, just like his sister. In the end he fought for every breath – for one long hour, every few minutes we thought he’d gone, but he took another horrible gasp. And even after all the oxygen in his body had run out, his strong little repaired heart was still beating – barely – just barely – until he was gone. We buried our son exactly three weeks before the year-mark of Thisbe’s funeral.
It is the mission of the Thisbe and Noah Scott Foundation to promote research, awareness, and support for families of pediatric neuromuscular diseases. As Thisbe and Noah’s parents, we can think of no better way to honor their lives than to assure that a neuromuscular disease will never again take the life or health of another child.