Eli is a 5 year old, determined, strong, loving, and silly little boy. Eli faces many daily challenges, yet he continues to focus on the love and joy in his life. Eli has a rare genetic syndrome called Pitt-Hopkins syndrome, along with quadraplegic cerebral palsy, autism, asthma, EoE (eosinophilic esophagitis), and hypogammaglobulinemia (immune compromised).
Eli has a long and complicated medical history but here is a brief summary of his story:
Eli was born premature after an emergency induction due to complications in utero. Eli was born weighing 4lbs 8oz of pure fighting spirit. He was rushed to the NICU 30 seconds after birth and flown to a larger hospital at 2 days old. Eli had something very rare called Transient Hyperammonemia of the Newborn (THAN), that was causing a deadly build up of ammonia levels in his little body. Eli was put on ECMO (a life support machine that works your heart and lungs for you) for dialysis. The ECMO saved him from THAN, however it did cause multiple grad IV brain bleeds. These bleeds would later result in his quadrapleic cerebral palsy diagnosis. At 11 months old we found out that Eli also has Pitt-Hopkins syndrome. Pitt Hopkins causes global developmental delays, high myopia (vision problems), seizures, GI/motility issues, breathing issues (apnea and hyperventilation), and most are non-verbal. At 3 years old Eli received his level 3 Autism diagnosis. Eli later received his asthma, EoE (eosinophilic esophagitis), and hypogammaglobulinemia (immune compromised) diagnosis’. Eli receives PT, OT, SLP, and SPED services. He sees a long list of specialists at UVA, and has had 5 surgeries. Eli has a manual wheelchair he is working hard to learn how to use, he communicates with an AAC device, he uses knee and ankle orthotics, and has multiple medications to aid him in his health concerns.
So that’s the medical side, now to get to know Eli and who he is!
Eli is a very loving little boy. He absolutely loves to be included in things, adores making new friends, and gives the best hugs to ‘his people’. He is a wonderful big cousin and likes to give ‘lifts’ to the younger cousins as they sit on his lap and he holds them for rides in his wheelchair. He performs in a local special needs dance group with help from his older cousin, he has played in an adaptive basketball camp, and was accepted to play in his first t-ball league with his neurotypical peers. Eli absolutely loves water and music! As long as he isn’t having GI or seizure challenges, he is the happiest lil guy you will ever meet. Eli loves school and is finishing his first year of Kindergarten and is set to go to first grade in 23/24 with more time spent in gen ed classes. Eli is a sassy, sarcastic, funny, determined, and strong kid. He lights up a room and never gives up.
Eli is in the process of getting a multipurpose service dog that can help him with some of the following;
– A lifelong friend that aids him in making new friends, assists in school, as well as a companion that can aid him in all his many appointments and specialist visits.
– A step towards more independence that Eli craves and fights for everyday
– Item retrieval
– Mobility and balance assistance
– Seizure alerts (if his seizures continue to worsen as he ages)
– Alerts for asthma attacks, apnea, and choking
– Aiding in opening doors for him
– Behavior disruption
– Deep pressure and comfort for sensory needs and to aid in anxiety
We need to raise $23,000 to get Eli his new best friend. We need your help.
Thank you for taking the time to learn about our amazing child.