Meet Eli!

It was a normal pregnancy until the third-trimester when Eli was diagnosed with intrauterine-growth restriction (IUGR), meaning he was not growing as he should. Eli was born September 30^th, 2017 at 35 weeks and 5 days after an emergency induction and weighed 4lbs 8oz.

Right after his birth he was taken to the NICU due to showing signs of respiratory distress. Eli’s health continued to decline and at two days old he was flown to the NICU at UVA. Upon arrival to UVA, Eli was practically comatose, and it was discovered that he had a very rare condition called Transient Hyperammonemia of the Newborn (THAN), which meant his body wasn’t able to process proteins correctly, causing a buildup of toxic ammonia. Eli was put on ECMO (a life-support machine that works your heart and lungs for you) for dialysis to treat his THAN. ECMO saved his life but did cause four grade-four brain bleeds that would later result in his quadriplegic cerebral palsy diagnosis.

Before we left the NICU Eli was referred to the genetic specialist to check on some of his distinctive characteristics and to see if they could learn more about THAN. In August of 2018, we got the phone call with the results that would give us no additional answers on THAN, but answers, and even more questions, on his additional symptoms and characteristics. When Eli was 10 months old he was officially diagnosed with Pitt-Hopkins Syndrome.

Eli has been fighting every single day of his life and he will continue to do so. He has taught us so, so much; to watch him persevere day after day with a smile that can light up the room is simplyamazing. Though this little one has been through so much he is the sweetest, most joyful person you will ever meet.

Elijah has an entire team of over 10 specialists in addition to your regular care Drs, along with physical, occupational, and speech therapists, care coordinators, and loving family and friends.

Though we believe Eli is perfect in every way, we also believe in making his life easier for him so that he does not have to fight so hard every single day in everything he does. Fighting for a cure is our best way to fight alongside him. Join the fight for Eli, our warrior.