Lily's Dream Journal
Motto: "Never Give Up"
Diagnoses: ADNP Syndrome, Epilepsy, Malignant Hypothermia
High School Team: Bowie Silver Stars
Lily had a HUGE milestone happen last week.
In 2020 Lily was home sick on March 9th, 10th and 11th. On March 12th the news was reporting the rapidly rising Covid cases getting closer and closer to home, so I kept her home again because I knew her body was run down already. That evening Disneyland announced they were closing that Saturday and the rodeo in Austin got cancelled. Friday the 13th, Austin ISD cancelled classes after two confirmed cases were reported in Travis County. Little did we know at that time that March 6th, 2020 would be Lily’s last in person school day for a long time. The last time she attended in person she was in 4th grade. The last time she attended a full normal school year was 3rd grade. She is now in 6th grade.
At the direction of her doctor's, Lily spent 622 days being much being confined to our house and on Thursday November 18th, Lily got to return to school ❤️
They are easing her in slowly and she had two half days before the Thanksgiving break and when we return next week she will begin a gradual transition to four full days leading up to winter break. After Christmas, assuming all goes as planned, she will be back to full time.
She has been healthier than she has ever been because she hasn't been exposed to germs. She was diagnosed with scoliosis 6 months ago and the recent x-rays showed more movement, but nothing significant. We will go back in 6 months.
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.