Five days after Erin Moncek brought her newborn, Henry, home from the hospital, he stopped breathing and turned blue in his big brother鈥檚 arms. His parents rushed him to the emergency room of their local hospital, and he was hospitalized for five days. Henry鈥檚 doctors said he had a perfect storm of a mucus plug, reflux and apnea. But Erin had a sinking feeling that something more was going on with her baby.
As months went by, Henry had breathing issues and trouble feeding. He was growing slowly and was not hitting developmental milestones. 鈥淲e knew something was wrong, but we didn鈥檛 know what,鈥 says Erin.
Continued struggles
At 15 months old, Henry had two eye surgeries to correct severe congenital ptosis, a rare condition in which the upper eyelid droops and causes vision problems.
鈥淎fter the second surgery, Henry woke up from anesthesia and was struggling to breathe,鈥 Erin says. 鈥淚t was the scariest moment of my life.鈥
Henry was admitted to the pediatric intensive care unit at their local hospital for five days. 鈥淗e was a little vegetable for all intents and purposes,鈥 Erin says. 鈥淚 remember looking at him thinking, this is my baby, and there is something wrong with him.鈥
After that, Henry continued to struggle with developmental delays, breathing issues and feeding challenges. The Monceks spent about six months bouncing from specialist to specialist, getting few answers. 鈥淲e didn鈥檛 know if it was just several different medical issues or one disorder causing all of his problems,鈥 Erin says. 鈥淗is doctors weren鈥檛 communicating with each other, and it became my responsibility to tell each doctor what the other said. It made an already difficult situation even more stressful.鈥
Coordinated care
That鈥檚 when Erin鈥檚 cousin, a health care advocate, recommended Rush University Children鈥檚 Hospital鈥檚 aerodigestive program 鈥 a multidisciplinary clinic that brings together pediatric specialists in ENT, gastroenterology, pulmonology and speech-language pathology. The clinic provides coordinated care and diagnosis to children with complex, often interrelated airway, digestive, feeding and sleep disorders.
At the clinic, Henry saw a pediatric otolaryngologist, pediatric gastroenterologist , and pediatric pulmonary nurse practitioner Jenifer Burke, NP.
鈥淚 needed someone to hear me, and they did,鈥 Erin says.
Erin soon felt the burden lifted. 鈥淗enry鈥檚 first few years were incredibly stressful; I felt like more of a nurse or caregiver than a mom, and I felt like I missed out on a lot,鈥 she says. 鈥淒on鈥檛 get me wrong, I am still a nurse some days and a mom other days. But when we鈥檙e at Rush, I am able to just be Henry鈥檚 mom rather than the person relaying information from one doctor to another. The team at Rush didn鈥檛 put that on me.鈥
Answers, finally
Soon, Henry needed another eye surgery. At the same time, the Rush team wanted to run tests to see what was going on with Henry鈥檚 GI system and airways.
鈥淕iven his history with anesthesia complications, no one wanted to put him under multiple times, so they coordinated a whole 鈥榚vent鈥 for him with GI, ENT and ophthalmology, all working together,鈥 says Erin.
Once again, Henry struggled as he came out of the anesthesia. But being at an academic medical center meant that Henry had access to a wide range of specialists to help him. Care was coordinated with several other pediatric specialists, and soon geneticists, neurologists and a speech pathologist became part of Henry鈥檚 care team.
鈥淔or me, the more people who knew what was happening with Henry, the better,鈥 says Erin. 鈥淚f one symptom resonated with them or something about him stuck out, then maybe we鈥檇 figure out what was going on with him.鈥
After Henry made it through the complications, his care team decided that a feeding tube would help with his feeding issues and growth delays. 鈥淭hat was the start in the right direction,鈥 says Erin.
Additionally, Henry had a complete genetic workup with geneticist . 鈥淭he genetic tests found that Henry had a genetic mutation called BRPF1, which explained most of his symptoms: speech delays, low muscle tone, delay in walking, ptosis,鈥 says Erin.
BRPF1 is an extremely rare genetic mutation; only about 20 people have ever been diagnosed with this mutation. However, just having an answer has helped the Monceks look ahead with hope
In addition to having answers, Erin also credits the support they received from Henry鈥檚 care team to getting them to where they are today. 鈥淓veryone at Rush has looked out for us and held our hands along the way,鈥 says Erin. 鈥淭hey said, 鈥楧on鈥檛 worry, you鈥檙e not crazy, there is something going on with your son, and we鈥檙e going to help you get to the answer.鈥 And they did. They always wanted to do what was best for Henry and did everything they could to get us where we needed to be. They protected my baby and will forever be my angels.鈥
While Henry still has a feeding tube, he is working with a nutritionist, speech therapist and Kesavan and is continuing to thrive. 鈥淗e鈥檚 growing, he鈥檚 happy, he鈥檚 active, his hair has grown in; he has become the kid that he should be,鈥 Erin says.
