Tuesday, August 26, 2014

The Road to Knowledge

For those who don't know the path we have traveled with T the past year, I'm posting a summary. I haven't kept you out of the loop because I don't care. Mainly, I didn't know how to start. Despite copious reading about disability, I haven't found a guidebook on "How to tell people your kid is delayed." Now that he is having a pretty big surgery tomorrow, the door to that conversation is open. 

The last ten months have been a bit intense. We knew T had food allergies and eczema. Once we figured out how to manage those, though, we thought we were prepared to conquer the world. He crawled late, but he crawled. He got his first words on time. He walked late, but when he walked he ran. He didn't talk as much as his older brother, but we were content to let them be different from one another. 

At his two year well-child appointment last October our new pediatrician asked me if I had any concerns about his speech, I said "no." Because I didn't. He was talking, he was adding words. She knocked the wind out of me when she told me T had a speech delay.

In November he had a hearing test, which he passed with flying colors. He also had a developmental assessment from the state's early intervention service, which he bombed. Watching him fail repeated tests was heartbreaking.

In December, on my due date, he had his first services with an Early Intervention Specialist and Speech Therapist.

In January he added Occupational Therapy (OT) and Physical Therapy (PT) to his schedule.

In February I realized his delays weren't going away. Not only was the veil lifted from my eyes so I could see him more accurately, but the gaps between him and his peers were widening. I spoke with his pediatrician and she ordered additional speech therapy (ST). 

I spent most of March doing research, trying to diagnose T myself before his 2.5 year appointment in the beginning of April. I felt like he had a genetic disorder. My man felt like he had suffered a brain injury.

In April the pediatrician agreed we could/should pursue a diagnosis to explain all the delays. She referred us to a geneticist and a developmental pediatrician.

In May the developmental pediatrician gave us a diagnosis of Hyperkinesis Syndrome with Developmental Delays (sorta the new ADHD). She ordered blood work to appease me and an MRI of the brain to appease M. The blood work showed a deletion on chromosome 8. The MRI of the brain showed an old stroke. She referred us to neurology. And added even more PT and OT than what he had been receiving.

In June we saw the geneticist and the neurologist. His official diagnosis is Unbalanced 4p 8p translocation. It is so rare it only has a description, not a name. The neurologist was puzzled at the type of stroke T had experienced sometime in the past. (He's guessing in utero) So neurology sent us to hem/onc & cardiology to rule out thromboembolic causes of his stroke. He also ordered an MRI of his spine. 

In July we saw Hem/Onc and Cardiology. Hem/Onc found a rare mutation that is poorly understood. They don't think it is clinically significant, though. Cardiology noted two abnormalities. Neither are clinically significant at this time, though we are going to monitor him. The MRI of his spine showed the lipoma causing a tethered spinal cord. So then we went to neurosurgery. 

Though his long list of diagnoses is overwhelming, he is not. T is awesome. He is continuing to add skills and words to his abilities every day. He is incredibly affectionate and kind and super silly. He has achieved the perfect level of mischievousness - makes life fun without being rebellious. He is a great friend to his brother. He pelts his sister with kisses every day. He does not give his heart to just anyone, but those he loves, he loves with abandon. He keeps a pleasant, joyful attitude despite often feeling miserable physically. And he's gorgeous, too!

This time last year we had no idea that T had such a significant disability. I guess that goes to show how great he is. His personal sunshine blinded us to his delays.

copyright (c) Elizabeth, Bug's Beef. All rights reserved.

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