Although early diagnosis and identification of developmental delays is extremely beneficial to children and their families, many parents experience long delays and a general lack of urgency by medical professionals. Amber has learned that persistence and determination are key traits to possess as she has had to advocate for her children in regards to acquiring testing, diagnoses, therapies, and admittance to special programs at school.
For Amber, challenges with her child, Corey, began in utero. With only one artery in the umbilical cord instead of two, doctors were concerned about proper blood flow and continuously monitored him throughout the pregnancy. There had been concern for a possible early delivery due to pre-eclampsia symptoms, but with bed-rest and medication, Amber was able to carry Corey to full term.
Amber’s pregnancy with her second child, Eli, was far less eventful until he was born three weeks early, and his breathing became erratic. He was unable to breathe properly unless he was crying which made intubation necessary. He was then transferred to the Neonatal Intensive Care Unit (NICU) at Meriter Hospital in Madison, Wisconsin. While in the NICU, it was discovered that Eli was born with Bilateral Choanal Atresia—a congenital narrowing of the back of the nasal cavity that causes difficulty breathing.
After Eli was transferred from the NICU to UW Children’s Hospital, Eli had surgical correction and stents were placed to hold open the incisions that created an opening to connect the back of his nostrils to the airway at the back of his throat. Two weeks later, the stents were removed. He was followed closely and required two additional exams performed under general anesthesia. At nine months old, Eli had his adenoids removed and tubes placed in his ears due to a severe double ear infection. The adenoids prevented more efficient nasal drainage and breathing as well.
At 18 months old, Amber questioned Eli’s ability to verbally communicate. Eli’s pediatrician was not concerned; however, Eli’s godfather, a family practice physician, expressed concern. After a follow-up appointment with the pediatric ENT (ear, nose, and throat) doctor and an audiologist, Amber consulted with a geneticist. The geneticist recommended that Eli be screened or evaluated for the early intervention program for infants and toddlers with developmental delays and disabilities. She did; however, they suggested Amber wait two to three more months and return for more thorough evaluations.
Not satisfied with the “wait and see” recommendation, Amber contacted the pediatrician again. At that time, the doctor ordered a speech evaluation from a speech pathologist at the rehab clinic. A speech delay was indeed confirmed, and Amber was able to set up speech therapy sessions through the early intervention program.
Three months into speech therapy, the therapist suspected that Eli may have sensory issues along with the possibility of Apraxia of Speech. Childhood Apraxia of Speech (CAS) is a motor speech disorder where the child knows what he or she wants to say, but their brain has difficulty coordinating muscle movements necessary to say those words. The diagnosis usually isn’t made until the child is older; however, sensory issues were enough to qualify Eli for occupational therapy and speech therapy was increased from twice a month to once a week.
To determine if Eli was on the Spectrum, he received an additional speech evaluation, a more thorough genetic evaluation, and a psychological evaluation. The tests results concluded that Eli was missing the RBfox1 gene. Studies have identified variations in the RBfox1 gene with autism and other developmental delays. Eli received an official autism diagnosis when he was three years old and began in-home Applied Behavior Analysis (ABA). ABA is one of the most widely accepted autism therapies in the country.
About three months into Eli’s intensive in-home therapy, Amber began evaluating Corey’s (Eli’s big brother) mannerisms and development. As Corey is academically bright, it had been suggested that his “quirky” behavior was related to being gifted and talented. However, at eight years old, Corey had difficulties adapting to change, riding a two wheel bike, and tying his shoes. Those challenges, as well as Cory’s concrete thinking pattern, prompted Amber to pursue an evaluation administered by a neuropsychologist. Last summer, Corey was diagnosed with Asperger’s Syndrome.
Asperger’s Syndrome is a disorder that involves challenges in socialization, communication, and can often include challenges with other developmental appropriate skills. Until recently, Asperger’s was considered separate from Autism in diagnosis criteria, but is now under the Autism Spectrum Disorder (ASD) umbrella. One difference is the age of the child when the symptoms are noticed. Often, Asperger’s Syndrome is not diagnosed until a child is in elementary school; whereas autism may be more noticeable at a younger age due to lack of age appropriate communication or a regression in the child’s communication.
So, when does a mom, researcher, advocate, wife, and home-maker caring for two children with special needs take time for herself?
Amber chuckled at the question. “It’s very hard,” she said. “It can even be difficult to find time to make a doctor’s appointment for myself. There are many variables to take into consideration. We do not have immediate family in Janesville, so often it boils down to prioritizing and figuring out how to make it all work and fit together. At times, my husband has chosen to use a vacation days so that I could attend a conference or appointment.”
Fortunately, Amber learned about the IDS Respite Program, and now receives respite funding for her two boys. This funding will give her “the gift of time” to re-energize for the never ending challenges of being the best advocate for her two sons.