Hmmm. Maybe. Maybe not. I don’t think so. There’s no way. It’s possible. He is. I’m not sure. But let’s run some tests anyway, just in case.
That’s how the conversations went with our son’s pediatrician at every visit. One day she thinks he is in the spectrum and the next she doesn’t. I felt so lost and confused. How was I to know exactly how to help him without knowing what was going on with him?
Besides referring us to Early Intervention, the first thing our pediatrician wanted us to do was to get his hearing checked. The first audiology exam revealed some mild degree of hearing loss and due to history of ear infections, we were referred to an ENT (Ear Nose & Throat) doctor. The ENT doc suggested bilateral ear tubes so in June of 2010 we went ahead with the surgery. A month later our at home services from the Inland Regional Center for early intervention started. We also started Speech Therapy around the same time.
In May of 2011, we saw our first Neurologist and here’s the summary of that: “Isolated language disorder with probable apraxia of speech on a developmental basis with no current evidence of any progressive neurological disorder. There is no evidence that I can see autism in the social interaction with family at this point in time.” So he told us to continue with speech and early intervention and if we don’t see any changes in six months to have an MRI for possible intercranial pathology.
In July of 2011, we were phased out of Inland Regional Center and on to the school district. For the record, we chose not to continue services through IRC at the time because we were not quite ready for the Psychological evaluation. Maybe it was denial but I wanted to give my son another year to progress. He was only 3 at the time. His speech and occupational therapy also stopped since they were part of the early intervention service. The school district qualified our son under “Autistic like” and was given 5 hours a day, Monday through Friday of Special Day Class (SDC). The 5 hours also included 1 hour of one on one ABA therapy. No speech therapy was provided because I was told that he would not benefit from it due to his language level being in the 6-12 months of age. No occupational therapy was provided even with apparent sensory seeking behaviors.
For our neurology follow up we decided to go with a new one from Rady’s Children in San Diego. He set us up to do a 20 minutes EEG for seizures, A BAER exam to rule out hearing issues and lab work for Fragile X, Chromosome and Karyotype tests, as well as a referral for a developmental evaluation to determine his cognitive level and autism screening. He gave us a diagnosis of “Mixed Receptive-Expressive Language Disorder.” All the tests came back normal and the cognitive and autism screening will not happen until July of 2012.
In March 2012, after being fed up with the school district not providing speech, we decided to provide him one privately. A month later, the Speech Pathologist diagnosed him with severe oral and speech apraxia. In April he started seeing a physical therapist for his toe walking and in May, the occupational therapist diagnosed him with dyspraxia.
Also in March, our developmental pediatrician finally ordered an MRI. And the findings? “Small isolated focus of T2 hyperintensity in the left periatrial white matter that is unspecific. Differential would be small perivascular space or a focus of gliosis related to a previous inflammatory or ischemic event. Incidental left choroidal fissural cyst. No malformations of cortical development.” Somehow that meant everything was normal. But the pediatrician must have heard the worry in my voice so she set us up with a new neurologist. One that is supposed to be one of the best in the country. The problem was he had a long waiting list so the pediatrician had to call him personally to try to get him to see us sooner.
Two months later we were seeing our third and new neurologist. He was very thorough and I was quite pleased with him. I understood why the long waiting list until he mentioned that my son has “mild dysmorphic facial features and large ears.” I thought to myself, “If that’s what you call perfection, then I’ll take it.” I guess I was baffled. I know he has large ears and so did his dad when he was young but he grew into them. But the dysmorphic facial features? I don’t think so. Nonetheless, he ordered for us to do a microarray genetic testing for further evaluation of his developmental disorder, in addition to a CPK/Aldolase testing to assess his muscle enzymes. He also mentioned that our son has mild generalized hypotonia, oral apraxia and for a possible ADD or ADHD screening in the future. He does not believe that he meets diagnostic criteria for Autism Spectrum Disorder.
So we left his office more confused and scared than before. The tests he requested also came back normal. So far, every tests we’ve done showed us nothing. So in July, we went ahead with the psychological evaluation from Inland Regional Center. They diagnosed him with Autism. And here we are today. Doing everything we can to help him. Speech therapy for the apraxia, occupational therapy for all his sensory and fine motor needs, physical therapy for the tip toeing and hypotonia, ABA for the Autism, special day class to help prepare him for school, and lots of outings to help him socially. Oh, and biomedical protocol to help bring him back into our world. You may think, “Wow, Cate! That seems like a lot of work. I don’t know if I can do it.” But trust me. You can do it. I won’t lie and say it will be easy, because it’s not. It’s challenging and at times frustrating. But as with anything else, the more you do it, the easier it gets. As time progresses, it will just be another typical day in the neighborhood. Hang in there friends.