As a small child, Lily was developmentally delayed and had a di cult time eating. She learned to roll over at 11 months and was delayed with crawling and walking. At age two, she ended up in the ICU in metabolic acidosis. Doctors searched for answers to Lily’s metabolic issues for over six years. In February of 2018 she was diagnosed with a mitochondrial disease a er a muscle biopsy. Her genetic link is still unknown and the doctors are still looking for answers. Lily is o en hospitalized when she is ill because she can become acidotic. If left untreated, this could cause a coma or death.
Lily had whole exome sequencing done, which uncovered several gene mutations unrelated to the mitochondrial disease, including one on her RYR1 gene and a surprising one on her ADNP gene that she shares with her twin brother. at led to Lily and her twin being diagnosed with an extremely rare genetic syndrome called, ADNP syndrome. To date only 165 people have been identi ed with ADNP worldwide
In 2017 Lily was diagnosed with epilepsy. She has scapular winging, and muscle weakness in her core. Additionally, Lily has malignant hypothermia (MH) susceptibility due to her RYR1 mutation.
Doctors will have to take special precautions during any surgical procedures and she also shows symptoms of awake MH. MH can be deadly.
Lily’s conditions cause her to overheat quickly, fatigue easily, and she has to have a cool place to go when it’s hot outside. Lily has cognitive impairment and receives special education services at school. Lily attends PT, OT, and speech therapy weekly. Despite her struggles, she is a happy brave girl and rarely complains.