The story of Shiela
Brendan was born on 3/21/2016, Lousiana. I was at my 37.5 weeks term of pregnancy. He weighed 7.7 pounds and measured 20.5 inches. He looked perfect or at least normal to what we have seen for typical born babies. We thought everything was great, normal and out of the woods. But time seemed to stand still for my husband and I. The medical staffs were perfect in every way imaginable except explaining the dreaded weight why we were not in union with our newborn son. NICU doctor came to our room to inform us that our little boy had a lot of red flags. We couldn’t just believe what we have heard that time. His got a little bit of jaundice; oxygen level is low, problem with sucking, breathing and swallowing. So they had to placed him a feeding tube. They did more lab tests on him and found out he had holes in his heart, undecended testicle, and spot in his kidney when they did the ultrasound. Brendan stayed in NICU for 15 days. After few months of doctor appointments, the pediatric cardiologist ruled out the heart murmur and the holes had been closed. The nephrologist checked him out and ruled out the spot in his kidney. These erased some of our worries. Brendan had 6 total surgeries. These includes his eyes (both), his right retina was not fully developed when he was born; hernia and orchiopexy for his undecended testicle; tympanostomy tube and adenoidectomy. While Brendan is growing up we noticed he’s not meeting his developmental milestones. So we made an appointment and got Early Intervention Services. Our little boy was initially diagnosed with global development and speech delays but our pediatrician referred us to a Geneticist for more tests and studies. We still going to his other specialists, Pediatric Neurologist, Orthopedics, Immunologist and Opthalmologist. In September 2019, after all the blood work and lab tests, Brendan was diagnosed with this rare genetic disorder called a gene mutation, FOXP1 syndrome. This syndrome defined as “Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability”< https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=391372>. Our Geneticist said Brendan was his first case. We are finding out if there are other kids here in our state, Louisiana with the same diagnosis of our son but we never heard anything yet. With all the evaluations and recommendations by different specialists which include his Developmental and Behavioral Pediatrician, Brendan started last year his ABA therapy, four days a week . His speech and occupational therapies just started early this February 2021, twice a week. These therapies really help a lot and we see some progress. He goes to school once a week and where he gets more session with speech, occupation and APE therapy services. Our little boy is not used to be around with other kids but being in school it helps him to get along and socialize with his schoolmates. Brendan is such a happy, sweet little boy. He never fails to make us all happy. Most of all he is a fighter. Our family will continue to do more research and reach out other families with same diagnosis of our little boy to give us more information, understanding and support.
*Find others with FOXP1 on RareConnect, the online platform for people affected by rare diseases