ADNP Kids Research Foundation
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Cheila 2008-2023

Portugal
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Written by her parents:

Our tiny little angel was born on August 2nd, 2008, measuring just 45cm and weighing 2630kg. It was evident that she was a very special and beautiful girl. Though her life was short, she was always happy. However, it was only in the last year that it became very complicated.
 
Cheila faced numerous difficulties, including walking, talking, breastfeeding, and eating. It was clear that she experienced significant developmental delays, prompting her to be closely monitored by developmental specialists from the beginning.
 
She had a complicated health history, frequently suffering from ailments such as tonsillitis, ear infections, and vomiting.
 
After being evaluated by child psychiatry, Cheila was diagnosed her with autism. Additionally, she underwent surgery at the age of 2 to address issues with her tonsils, ears, and adenoids.
 
From ages 3 to 7, Cheila's condition stabilized, although she still faced challenges with speaking and walking. She received support at school from specialist teachers, and overall, things went well. However, there was a suspicion that her condition might not be solely attributed to autism.
 
At 10 years old, Cheila complained about her chest, which initially seemed like a normal part of puberty. However, a visit to the cardiologist revealed abnormalities in her left ventricle, prompting further investigation and she was sent to a genetics specialist.
 
In 2020, it was discovered that Cheila had ADNP syndrome and a mitochondrial disease called VARS2, inherited from both parents. Throughout her journey, Cheila was under the care of numerous specialized doctors.
 
In 2021, she began experiencing nocturnal epilepsy, brain injuries, behavioral difficulties, slurred speech, and fatigue, necessitating home support as she could no longer attend school. Despite her resilience, her condition continued to worsen, with increasingly frequent seizures and brain injuries.
 
Tragically, on August 12, 2022, at 4:30 pm, she peacefully passed away in her sleep.  Though her life was brief, Cheila's impact was profound. She will forever be cherished and remembered for the happiness and enriching experiences she brought into our lives.

Our little angel may be gone, but she will always hold a special place in our hearts. "We love you to the moon."
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Disclosure: This page represents information known to the best of our knowledge.  Given the sensitivity and fast changing pace of research and drug development, some of the information posted on our website www.adnpfoundation.org may be inaccurate or not complete, therefor this information should be confirmed by the reader. Additionally, the medical information on this website is not substitute for personal diagnosis or medical care advise. Families and patients should consult a medically qualified clinician in all matters relating to genetic diagnosis, disease management and health. Information on ADNP research is a very fast-moving field and while the information here is believed to be the best available at the time of publication, some facts may later be updated or change. Please see additional disclosures on our PRIVACY POLICY page.
  • About
  • RESEARCH
    • Research Update 2.2024
    • ADNP Patient Registry & Natural History
    • Research Projects 2023
    • Research Strategy
    • Ketamine Trial
    • Ketamine Trial Publication
    • Ketamine Update
  • FAMILIES
  • NEWS
    • Giving Tuesday
    • NET Collaboration Study
    • Ketamine Trial Phase 2 Announcement >
      • Glimpse of Hope RDD 2020
    • Mount Sinai Launches First Drug Trial for ADNP Syndrome
    • Seaver Midtown Partnership
    • Biomarker Discovered
    • NEWS - p.Tyr719* Case Study
    • NEWS HIGHLIGHTS- ADNP Syndrome Family Conference
  • DONATE/SUPPORT
    • Warrior Fun Run >
      • Past Fun Run Pictures
      • Sponsorship Opportunity
    • Third Party Fundraising
    • ADNP STORE
  • contact us
  • ADNP STORE