In honor of Undiagnosed Diseases Day, I thought I’d give you a full glimpse into how our son Oscar achieved this dubious distinction. A lot of this was covered play-by-play over 18 months at our Caringbridge site, but this is the first time I’ve written out the whole saga in one place.
Oscar had a tonic-clonic seizure with loss of consciousness, asleep in my arms. He was admitted to the hospital and monitored overnight. No seizure activity was recorded on the EEG.
Two days later, he had a second identical seizure. He was diagnosed with epilepsy and began the first many medication trials. The medicine failed to control the seizures, and he began having them on a near-daily basis. An MRI revealed normal brain structures.
During a second inpatient stay, Oscar was diagnosed with infantile spasms, a second, far more damaging seizure type. His EEG was markedly abnormal, with seizure activity originating from multiple points in his brain. He was still seizing daily, sometimes multiple times per day, even on anti-epileptic medication. By this point, his pediatrician had already noted mild-moderate developmental delays and referred him for early intervention therapy.
A swallow study revealed that he was having trouble swallowing his food safely and efficiently, without it penetrating his windpipe.
A second opinion consult yielded no suggestions other than stay the course. Blood was drawn for genetic testing.
We consulted with a gastroenterologist to try to resolve Oscar’s ongoing digestive issues: reflux, vomiting, constipation, and diarrhea.
After failing four medications, Oscar began ketogenic diet therapy in the hopes that it would control his seizures. Further imaging confirmed multiple points of seizure origin in both hemispheres, making surgery an unlikely option for treatment.
Genetic testing revealed seven variants known to be associated with epilepsy (his neurologist said she had never seen so long a list). However, nothing was known about any of his specific mutations — none could be definitely ruled in (or out) as the cause of his problems. We began the process of searching nationwide for a clinic that could help with a deeper genetic study, whole exome sequencing and analysis.
A neuropsychological evaluation showed severe developmental delays across the board, particularly in cognition and communication.
The seizures and spasms continued, multiple times per week.
Oscar’s fifth medication trial, Sabril, began to control his seizures. His doctors expressed confidence that his development would catch up now that his brain had a chance to rest and reset itself.
It did not.
Oscar was hospitalized with pneumonia, because his low muscle tone made him unable to cough effectively during an ordinary winter cold. He was diagnosed with cerebral palsy due to his lack of motor coordination.
We added medications to try to help him sleep through the night. Because his seizures often occur during sleep, his sleep (and ours) is interrupted every night. The medication helps some, but Todd and I begin taking turns sleeping in separate rooms, one of us with Oscar and one of us getting a solid eight hours.
A second opinion and genetic workup at Columbia Presbyterian in New York City suggested additional diagnostic tests. Otherwise, the neurologist confirmed Oscar’s many symptomatic diagnoses, and could find no overarching explanation for them.
Oscar was accepted to the Dell Children’s Comprehensive Care Clinic, a practice dedicated to the needs of medically complex and fragile children.
Oscar, Todd, and I went on pilgrimage to Lourdes. Immediately after our return home, Oscar began making astonishing developmental progress overnight. Praise God from whom all blessings flow.
Oscar’s genetic results from the whole exome study came back negative. The world-class research team at Columbia had uncovered no genetic explanation or syndrome to match his list of symptoms, which by this point included:
Complex Partial Seizure with Impairment of Consciousness
Non-refractory Infantile Spasms
Oscar has made tremendous progress in many ways. His seizures are well controlled; his digestive issues are manageable; he is working on 12-month developmental milestones after being stuck at the 6-month mark for nearly a year. He is almost two and a half.
But in important ways, there is a lot we still don’t know. We don’t know why he got sick. We don’t know what’s causing the seizures. We don’t know what parts of his brain are most affected. We don’t know what his long-term prognosis is, or what treatments are most likely to work or to fail.
All rare diseases were once undiagnosed. It’s estimated that 80% of undiagnosed diseases are driven by genetic causes not fully understood yet. Undiagnosed Diseases Day is an attempt to shine some light into those dark places, to raise awareness and funding for the importance of genetics in the continuing search for understanding and cures.