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Located: United States
Developmental delays, Epilepsy, Hydrocephalus, Immune deficiency, Macrocephaly

Paxton was born after a 37-week gestation. The pregnancy was uneventful. He was born via C-section and weighed 8 pounds 14 ounces. He has three older sisters, one of whom has a profound disability related to a de novo mutation on the 22nd chromosome, causing Phelan-McDermid Syndrome. The first difference we noticed in Paxton was that his feet appeared curved, and were postured like club feet. Initially, the doctors and nurses thought his feet would fix themselves and that maybe they had been stuck in that position in utero. His head size was normal (50th percentile) at the time, and he had APGAR scores of 8 and 9. He had a hydrocele on his testicle, which postponed his circumcision. Paxton was diagnosed with jaundice before we left the hospital, and was treated with light therapy. He breastfed beautifully, and was doing well enough to go home with his family on his 4th day of life.

At 2 weeks old, he failed his first and second newborn screening, as they said they were not able to detect T cells. The third time he passed, so at the time, this was not understood.

At 6–8 weeks old, we noticed that he wasn’t able to hold his head up at all, and that his feet were still turned inward (his right foot was always more noticeable than his left.) He also had a significant umbilical hernia, and appeared to have low muscle tone in his core and high muscle tone in his arms and legs. We referred him for evaluation for PT and OT and he qualified for intervention services.

Between 4 and 6 months, Paxton was smiling and cooing, but still did not have head control. He began serial casting and AFOs on his feet to repair the curvature. During this time, Paxton’s head size moved from the 50th percentile to well over the 100th percentile. He was referred to neurology, and after an MRI he was diagnosed with macrocephaly, and ventriculomegaly/hydrocephalus. He was then referred to a neurosurgical team. Neurosurgery took a “watch and see” approach, doing MRIs every three months before deciding he needed a shunt at 21 months old. By this time, Paxton was still not walking, but would scoot around the house on his bottom. Between age 1 and 2, Paxton was developing language, but was about 3 months delayed in communication, fine motor, and cognitive skills and about 12 months delayed in gross motor skills. At 25 months old (3 months after his vp shunt placement) Paxton began walking and talking! He was able to put two words together at this time, but was still receiving occupational and physical therapy, in addition to lots of ABA-type therapy at home since his mom is a Board Certified Behavior Analyst.

Between ages 2 and 3, Paxton began to get sick quite frequently. He was breastfed (in addition to other foods) until he was almost 2, and he also started a mother’s morning out program at 25 months for a few months until we pulled him out after having pneumonia two times. Right around this time we were told that his whole exome sequencing results indicated that he had a genetic mutation causing Tatton Brown Rahman Syndrome. We made follow-up appointments with a neuro-geneticist in Houston, TX to help clarify the testing. Around 26–29 months he was diagnosed with reactive airway disease, as well as eosinophilic esophagitis. He had a febrile seizure at 26 months old, resulting in his first ambulance ride. Just before age 3, Paxton was diagnosed with epilepsy following several tonic seizures, a few caught on a 24-hour video EEG.   He was also diagnosed with a primary immune deficiency just before age 3, due to a T-cell defect causing dangerously low lymphocyte levels. Paxton is now getting IVIG (intravenous immunoglobulin) treatment once a month for his immune deficiency. He qualified for local public school special education services, where he also gets supportive services of PT, OT, and speech therapy.

Today, Paxton is 6, and he is just the happiest child! He loves to play with his mom, dad, nanny, and sisters and he is able to use complex phrases, answer simple questions, and participate in some modified miracle league athletics. He currently is receiving at-home ABA therapy, as well as home-based occupational, physical, and speech therapy. He is now running and jumping and is beginning to walk up and down steps unassisted. He loves social attention, and is a big fan of going to the movies, hotels, Mickey Mouse, Charlie Brown, balls, sticks, dirt, making brownies, eating cookies, and Starbucks “cake pops!” He is 100th percentile for height, and though his head is still very large, his ventricles have decreased tremendously and they no longer see any atrophy, and are now seeing brain growth!

Paxton is loved by everyone who knows him. He brings joy and light everywhere he goes, and despite his challenges, is learning and progressing all the time. He still receives IVIG infusion therapy and likely will for life according to his immunologist and hematologist. He still gets frequent infections, and has had countless hospital admissions over the last few years. Despite his challenges, we have every hope that Paxton will have a full, happy, and complete life, and that he will continue to thrive in his own, unique way.

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