Cyrus Lee Brown - A Light In My Life

Cyrus Lee Brown arrived on February 15th, 2015. I know that not all mothers experience that instant connection with their newborn child, but I did. The second Cyrus uttered his first cries, my heart just about melted. I have never been so excited or grateful to meet anyone in my life! 

We chose the name Cyrus because it means Sun as in Sunlight! We just knew Cyrus would be a source of light in our lives. 

When he was four months old, Cyrus began manifesting a rare type of seizure, that are referred to as Infantile Spasms. He was having dozens of these seizures a day. We were lucky enough to be living near Stanford, and Cyrus was taken to Lucille Packard's Children's Hospital. Because this is a gargantuan teaching hospital, they ran every test imaginable from genetic tests, lumbar punctures, blood tests, EEGs, and MRIs, and were able to diagnose him within a month! He has a freakishly rare disorder called Adenylosuccinate Lyase Deficiency (ADSL). By freakishly rare, I mean that there have been less than 100 cases worldwide since 1989 when the disorder was identified. We're like number 10 or something in the United States. Genetically, the disorder is believed to have originated from Belgium. 

ADSL is a metabolic disorder that is caused by having the incorrect genetic recipe for Adenylosuccinate Lyase, which is an enzyme that is used to make a purine nucleotide called Adenosine. Adenosine is used in DNA replication, transcription, and to make cellular energy in the form of Adenosine Triphosphate (ATP). Needless to say, it's important and it will affect him severely both intellectually and physically. This metabolic disorder that is so complicated and so rare, that it is not well understood even by neurologists or metabolic geneticists (honestly, his care team had never heard of it until Cyrus's genetic test came back positive). There are several theories as to what specific mechanisms in his metabolic pathways causes the developmental delays and epilepsy, but the research is far from well defined or certain. And though several experimental treatments have been tried, there's been little in the way of success in treating the underlying metabolic dysfunction. 

His prognosis is unclear as he is presenting on a different timeline than any other documented cases. He has presented with seizures later than those have have the severe version of the disorder, and unfortunately far earlier than those who have the moderate version. We have been warned that he is unlikely to learn to talk or to learn to walk, and that his life expectancy is significantly diminished. 

Initially, I felt incredibly guilty and responsible. And then angry and devastated. But at the end of the day, I really didn't want to spend our time grieving something that has yet to happen. Instead we want to treasure each moment and Cyrus has definitely taught me to slow down and be more present. To let the other stressors and daily irritations roll off my shoulders. And to be joyful and grateful in the the tiniest of moments. He has made me a far better person and is definitely living up to his name.